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Sample records for blood group alleles

  1. Phenotypic and allelic distribution of the ABO and Rhesus (D) blood groups in the Cameroonian population.

    Science.gov (United States)

    Ndoula, S T; Noubiap, J J N; Nansseu, J R N; Wonkam, A

    2014-06-01

    Data on blood group phenotypes are important for blood transfusion programs, for disease association and population genetics studies. This study aimed at reporting the phenotypic and allelic distribution of ABO and Rhesus (Rh) groups in various ethnolinguistic groups in the Cameroonians. We obtained ABO and Rhesus blood groups and self-identified ethnicity from 14,546 Cameroonian students. Ethnicity was classified in seven major ethnolinguistic groups: Afro-Asiatic, Nilo-Saharan, Niger-Kordofanian/West Atlantic, Niger-Kordofanian/Adamawa-Ubangui, Niger-Kordofanian/Benue-Congo/Bantu/Grassfield, Niger-Kordofanian/Benue-Congo/Bantu/Mbam and Niger-Kordofanian/Benue-Congo/Bantu/Equatorial. ABO allelic frequencies were determined using the Bernstein method. Differences in phenotypic distribution of blood groups were assessed using the chi-square test; a P value blood groups O, A, B and AB were 48.62%, 25.07%, 21.86% and 4.45%, respectively. Rhesus-positive was 96.32%. The allelic frequencies of O, A and B genes were 0.6978, 0.1605 and 0.1416, respectively. Phenotypic frequencies of the blood groups in the general study population and in the different ethnolinguistic groups were in agreement with Hardy-Weinberg equilibrium expectations (P > 0.05). The frequencies of O, A, and B blood phenotypes were significantly lower, respectively, in the Nilo-Saharan group (P = 0.009), the Niger-Kordofanian/Benue-Congo/Bantu groups (P = 0.021) and the Niger-Kordofanian/West-Atlantic group. AB blood group was most frequent in the Niger-Kordofanian/Adamawa-Ubangui group (P = 0.024). Our study provides the first data on ethnic distribution of ABO and Rhesus blood groups in the Cameroonian population and suggests that its general profile is similar to those of several sub-Saharan African populations. We found some significant differences in phenotypic distribution amongst major ethnolinguistic groups. These data may be important for blood donor recruitment policy and blood transfusion

  2. Allelic variance among ABO blood group genotypes in a population from the western region of Saudi Arabia.

    Science.gov (United States)

    Mohamed, Abdularahman B O; Hindawi, Salwa Ibrahim; Al-Harthi, Sameer; Alam, Qamre; Alam, Mohammad Zubair; Haque, Absarul; Ahmad, Waseem; Damanhouri, Ghazi A

    2016-12-01

    Characterization of the ABO blood group at the phenotype and genotype levels is clinically essential for transfusion, forensics, and population studies. This study elucidated ABO phenotypes and genotypes, and performed an evaluation of their distribution in individuals from the western region of Saudi Arabia. One-hundred and seven samples underwent standard serological techniques for ABO blood group phenotype analysis. ABO alleles and genotypes were identified using multiplex polymerase chain reaction, and electrophoretic analysis was performed to evaluate the highly polymorphic ABO locus. A phenotype distribution of 37.4%, 30.8%, 24.3%, and 7.5% was found for blood groups O, A, B, and AB respectively in our study cohort. Genotype analysis identified 10 genotype combinations with the O01/O02 and A102/O02 genotypes being the most frequent with frequencies of 33.6% and 14.95%, respectively. Common genotypes such as A101/A101 , A101/A102 , A101/B101 , B101/B101 , and O01/O01 were not detected. Similarly, the rare genotypes, cis-AB01/O02 , cis-AB01/O01 , and cis-AB01/A102 were not found in our cohort. The most frequently observed allele was O02 (35.98%) followed by the A102 allele (17.76%). Furthermore, our findings are discussed in reference to ABO allele and genotype frequencies found in other ethnic groups. The study has a significant implication on the management of blood bank and transfusion services in Saudi Arabian patients.

  3. Molecular genotyping of ABO blood groups in some population groups from India.

    Science.gov (United States)

    Ray, Sabita; Gorakshakar, Ajit C; Vasantha, K; Nadkarni, Anita; Italia, Yazdi; Ghosh, Kanjaksha

    2014-01-01

    Indian population is characterized by the presence of various castes and tribal groups. Various genetic polymorphisms have been used to differentiate among these groups. Amongst these, the ABO blood group system has been extensively studied. There is no information on molecular genotyping of ABO blood groups from India. Therefore, the main objective of this study was to characterize the common A, B and O alleles by molecular analysis in some Indian population groups. One hundred samples from the mixed population from Mumbai, 101 samples from the Dhodia tribe and 100 samples from the Parsi community were included in this study. Initially, the samples were phenotyped by standard serologic techniques. PCR followed by single strand conformational polymorphsim (SSCP) was used for molecular ABO genotyping. Samples showing atypical SSCP patterns were further analysed by DNA sequencing to characterize rare alleles. Seven common ABO alleles with 19 different genotypes were found in the mixed population. The Dhodias showed 12 different ABO genotypes and the Parsis revealed 15 different ABO genotypes with six common ABO alleles identified in each of them. Two rare alleles were also identified. This study reports the distribution of molecular genotypes of ABO alleles among some population groups from India. Considering the extremely heterogeneous nature of the Indian population, in terms of various genotype markers like blood groups, red cell enzymes, etc., many more ABO alleles are likely to be encountered.

  4. ABO blood groups and psychiatric disorders: a Croatian study.

    Science.gov (United States)

    Pisk, Sandra Vuk; Vuk, Tomislav; Ivezić, Ena; Jukić, Irena; Bingulac-Popović, Jasna; Filipčić, Igor

    2018-02-15

    The prevalence of ABO alleles is different in different populations, and many studies have shown a correlation between the occurrences of some diseases and different genotypes of ABO blood groups. The aim of this study was to determine whether there is a significant association between psychiatric syndromes and ABO blood groups. This case-control study involved 156 psychiatric patients and 303 healthy, unrelated, voluntary blood donors. Genomic DNA was isolated from blood on a QIAcube device using a QIAamp DNA Blood mini QIAcube kit. ABO genotyping on five basic ABO alleles was performed using allele-specific polymerase chain reaction analysis. Compared with healthy subjects, a significantly higher proportion of psychiatric patients had AB blood group (χ 2 =9.359, df=3, p=0.025) and, accordingly, a significantly higher incidence of A1B genotype (χ 2 =8.226, df=3, p=0.042). The odds ratio showed that psychiatric disorders occur almost three times more frequently in carriers of AB group compared to other blood groups. However, no statistically significant difference was found in the distribution of ABO blood groups among patients with different psychiatric diagnoses. Likewise, no correlations were found between ABO blood groups and other characteristics of the psychiatric patients (sex, psychiatric heredity, somatic comorbidity, suicidality). The results of this study support the hypothesis of an association between psychiatric disorders and ABO blood groups. The probability is that psychiatric disorders will occur almost three times more frequently in carriers of AB group compared to other ABO blood groups in the Croatian population.

  5. Distribution of ABO and Rh-Hr blood group antigens, alleles and ...

    African Journals Online (AJOL)

    ABO and Rh-Hr blood group antigens represent a genetically stably determined trait with many-sided biological and clinical significance. The indigenous Ajarian population (105 subjects) was investigated for ABO Rh-Hr red cell blood group antigens. Using immunoserologic methods, seven blood group antigens (A, B, C, c, ...

  6. Genetic characterization of the ABO blood group in Neandertals

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    Bertranpetit Jaume

    2008-12-01

    Full Text Available Abstract Background The high polymorphism rate in the human ABO blood group gene seems to be related to susceptibility to different pathogens. It has been estimated that all genetic variation underlying the human ABO alleles appeared along the human lineage, after the divergence from the chimpanzee lineage. A paleogenetic analysis of the ABO blood group gene in Neandertals allows us to directly test for the presence of the ABO alleles in these extinct humans. Results We have analysed two male Neandertals that were retrieved under controlled conditions at the El Sidron site in Asturias (Spain and that appeared to be almost free of modern human DNA contamination. We find a human specific diagnostic deletion for blood group O (O01 haplotype in both Neandertal individuals. Conclusion These results suggest that the genetic change responsible for the O blood group in humans predates the human and Neandertal divergence. A potential selective event associated with the emergence of the O allele may have therefore occurred after humans separated from their common ancestor with chimpanzees and before the human-Neandertal population divergence.

  7. Blood Groups in Infection and Host Susceptibility.

    Science.gov (United States)

    Cooling, Laura

    2015-07-01

    Blood group antigens represent polymorphic traits inherited among individuals and populations. At present, there are 34 recognized human blood groups and hundreds of individual blood group antigens and alleles. Differences in blood group antigen expression can increase or decrease host susceptibility to many infections. Blood groups can play a direct role in infection by serving as receptors and/or coreceptors for microorganisms, parasites, and viruses. In addition, many blood group antigens facilitate intracellular uptake, signal transduction, or adhesion through the organization of membrane microdomains. Several blood groups can modify the innate immune response to infection. Several distinct phenotypes associated with increased host resistance to malaria are overrepresented in populations living in areas where malaria is endemic, as a result of evolutionary pressures. Microorganisms can also stimulate antibodies against blood group antigens, including ABO, T, and Kell. Finally, there is a symbiotic relationship between blood group expression and maturation of the gastrointestinal microbiome. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  8. Blood Groups in Infection and Host Susceptibility

    Science.gov (United States)

    2015-01-01

    SUMMARY Blood group antigens represent polymorphic traits inherited among individuals and populations. At present, there are 34 recognized human blood groups and hundreds of individual blood group antigens and alleles. Differences in blood group antigen expression can increase or decrease host susceptibility to many infections. Blood groups can play a direct role in infection by serving as receptors and/or coreceptors for microorganisms, parasites, and viruses. In addition, many blood group antigens facilitate intracellular uptake, signal transduction, or adhesion through the organization of membrane microdomains. Several blood groups can modify the innate immune response to infection. Several distinct phenotypes associated with increased host resistance to malaria are overrepresented in populations living in areas where malaria is endemic, as a result of evolutionary pressures. Microorganisms can also stimulate antibodies against blood group antigens, including ABO, T, and Kell. Finally, there is a symbiotic relationship between blood group expression and maturation of the gastrointestinal microbiome. PMID:26085552

  9. MNS, Duffy, and Kell blood groups among the Uygur population of Xinjiang, China.

    Science.gov (United States)

    Lin, G Y; Du, X L; Shan, J J; Zhang, Y N; Zhang, Y Q; Wang, Q H

    2017-03-15

    Human blood groups are a significant resource for patients, leading to a fierce international competition in the screening of rare blood groups. Some rare blood group screening programs have been implemented in western countries and Japan, but not particularly in China. Recently, the genetic background of ABO and Rh blood groups for different ethnic groups or regions in China has been focused on increasingly. However, rare blood groups such as MN, Duffy, Kidd, MNS, and Diego are largely unexplored. No systematic reports exist concerning the polymorphisms and allele frequencies of rare blood groups in China's ethnic minorities such as Uygur and Kazak populations of Xinjiang, unlike those on the Han population. Therefore, this study aimed to investigate the allele frequencies of rare blood groups, namely, MNS, Duffy, Kell, Dombrock, Diego, Kidd, Scianna, Colton, and Lutheran in the Uygur population of Xinjiang Single specific primer-polymerase chain reaction was performed for genotyping and statistical analysis of 9 rare blood groups in 158 Uygur individuals. Allele frequencies were compared with distribution among other ethnic groups. Observed and expected values of genotype frequencies were compared using the chi-square test. Genotype frequencies obeyed the Hardy-Weinberg equilibrium (P > 0.5) and allele frequencies were stable. Of all subjects detected, 4 cases carried the rare phenotype S - s - of MNS blood group (frequency of 0.0253), and 1 case carried the phenotype Jk a-b- (frequency of 0.0063). Frequencies of the four groups, MNS, Duffy, Dombrock, and Diego, in the Uygur population differed from those in other ethnic groups. Gene distribution of the Kell, Kidd, and Colton was similar to that in Tibetan and Han populations, though there were some discrepancies. Gene distribution of Scianna and Lutheran groups showed monomorphism similar to that in Tibetan and Han populations. These findings could contribute to the investigation of the origin, evolution, and

  10. The polymorphism of the Knops blood group system among five Chinese ethnic groups.

    Science.gov (United States)

    Li, Qin; Han, Sha-Sha; Guo, Zhong-Hui; Yang, Ying; Zhou, Jie; Zhu, Zi-Yan

    2010-12-01

    This work aims to explain the complexity of the Knops blood group system in the Chinese population. The Knops blood group system consists of antigens encoded by CR1 gene exon 29. A total of 281 individuals from the Han, Uigur, Tu, Lisu and Dong ethnic groups were studied. The coding region of the CR1 gene of 11 Han donors was analysed using reverse transcription-polymerase chain reaction (PCR) and sequencing. CR1 gene exon 29 in the 39 samples was analysed through genomic DNA sequencing. According to the sequencing result, a PCR-sequence-specific primers system was designed to screen the A4646G and A4870G alleles in the Chinese population. Twelve single nucleotide polymorphisms (SNPs) were observed in the coding region of the CR1 gene in the Han population. Two SNPs (A4646G and A4870G) were detected in the CR1 gene exon 29. The 4646G allele was found only in the Uigur and Tu ethnic groups, in which the allele frequencies were 0·11 and 0·06, respectively. The frequencies of the 4870A allele in the Han, Uigur, Tu, Lisu and Dong ethnic groups were 0·82, 0·83, 0·82, 0·57 and 0·57, respectively. The CR1 gene in the Chinese people is more conservative than that in the Caucasian or African people. Different Chinese ethnic groups may have their own different CR1 gene characteristics. The existence of 4646G in the Uigur and Tu ethnic groups suggests that both may carry certain Caucasian characteristics in the CR1 gene. The frequency of 4870G in the Lisu and Dong ethnic groups implies possible incidence of evolutionary pressure similar to what the Africans had experienced. © 2010 The Authors. Transfusion Medicine © 2010 British Blood Transfusion Society.

  11. Frequency distribution of ABO and Rh (D) blood group alleles in Silte Zone, Ethiopia

    OpenAIRE

    Kassahun Tesfaye; Yohannes Petros; Mebeaselassie Andargie

    2015-01-01

    Background: Frequency distribution of blood groups is important as it is used in modern medicine, genetic research, anthropology, and tracing ancestral relations of humans. The ABO and Rh blood groups are the most important blood groups despite the long list of several other blood groups discovered so far. Aim of the study: To study and document the frequency of ABO and Rh (D) blood groups in three ethnic groups of Silte Zone, Ethiopia. Subjects and methods: ABO and Rh (D) typing was ca...

  12. Genetic Analysis of ABO and Rh Blood Groups in Backward Caste Population of Uttar Pradesh, India

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    Vandana RAI

    2011-08-01

    Full Text Available A series of glycoproteins and glycolipids on red blood cell surface constitute blood group antigens. These are AB, A, B and O in ABO blood group system and Rh in rhesus blood group system. A total of 1065 unrelated Backward Caste (OBC individuals from Uttar Pradesh were studied for the phenotype and allele frequency distribution of ABO and Rh (D blood groups. Total 1065 samples analyzed, phenotype B blood type has the highest frequency 36.81% (n=392, followed by O (32.68%; n=348, A (23.66%; n=252 and AB (6.85%; n=73. The overall phenotypic frequencies of ABO blood groups were B>O>A>AB. The allelic frequencies of O, A, and B alleles were 0.5819, 0.1674 and 0.2506 respectively. Out of total 1065 samples, 1018 (95.59% samples were Rh-positive and 47 (4.41% were Rh-negative. Phenotypic frequency of Rh-negative in Koari, Yadav, Kurmi and Maurya samples were 0.99%, 4%, 1.4% and 7.6% respectively.

  13. Comparative frequency and allelic distribution of ABO and Rh (D ...

    African Journals Online (AJOL)

    Background: Allelic distribution of major blood groups (ABO and rhesus) has not been defined in Bangladeshi population. Determinants of blood group frequency in this region have not been studied properly. Aim: To determine ABO and rhesus blood group frequency and allelic distribution in a multiethnic area of ...

  14. Duffy blood group antigens: structure, serological properties and function

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    Ewa Łukasik

    2016-03-01

    Full Text Available Duffy (Fy blood group antigens are located on seven-transmembrane glycoprotein expressed on erythrocytes and endothelial cells, which acts as atypical chemokine receptor (ACKR1 and malarial receptor. The biological role of the Duffy glycoprotein has not been explained yet. It is suggested that Duffy protein modulate the intensity of the inflammatory response. The Duffy blood group system consists of two major antigens, Fya and Fyb, encoded by two codominant alleles designated FY*A and FY*B which differ by a single nucleotide polymorphism (SNP at position 125G>A of the FY gene that results in Gly42Asp amino acid change in the Fya and Fyb antigens, respectively. The presence of antigen Fya and/or Fyb on the erythrocytes determine three Duffy-positive phenotypes: Fy(a+b-, Fy(a-b+ and Fy(a+b+, identified in Caucasian population. The Duffy-negative phenotype Fy(a-b-, frequent in Africans, but very rare in Caucasians, is defined by the homozygous state of FY*B-33 alleles. The FY*B-33 allele is associated with a SNP -33T>C in the promoter region of the FY gene, which suppresses erythroid expression of this gene without affecting its expression in other tissues. The FY*X allele, found in Caucasians, is correlated with weak expression of Fyb antigen. Fyx antigen differs from the native Fyb by the Arg89Cys and Ala100Thr amino acid substitutions due to SNPs: 265C>T and 298G>A in FY*B allele. The frequency of the FY alleles shows marked geographic disparities, the FY*B-33 allele is predominant in Africans, the FY*B in Caucasians, while the FY*A allele is dominant in Asians and it is the most prevalent allele globally.

  15. Reduced ferritin levels in individuals with non-O blood group

    DEFF Research Database (Denmark)

    Rigas, Andreas S; Berkfors, Adam A; Pedersen, Ole B

    2017-01-01

    stores expressed as ferritin levels. STUDY DESIGN AND METHODS: Ferritin levels were measured at least once for 30,595 Danish Blood Donor Study participants. Linear regression analyses were performed with the ABO blood group as explanatory variable and adjusted for age, number of donations 3 years before......BACKGROUND: Genomewide association studies have reported alleles in the ABO locus to be associated with ferritin levels. These studies warrant the investigation of a possible association between the ABO blood group and ferritin levels. We aimed to explore if ABO blood group is associated with iron...... blood group was associated with a ferritin level of less than 15 ng/mL. RESULTS: Non-O blood group donors had lower ferritin levels than blood group O donors, regardless of sex. Accordingly, risk of ferritin level of less than 15 ng/mL was increased for individuals with non-O blood group compared with O...

  16. The relationship between ABO/rhesus blood groups and type 2 ...

    African Journals Online (AJOL)

    Blood samples were collected from the patients after consent had been obtained. The samples were tested for ABO and Rh blood groups, using the Beth-Vincent and Simonin-Michon methods. The allele frequencies were calculated according to the Bernstein formulas. Results: The χ2 test results showed that there was no ...

  17. Frequency distribution of ABO and Rh (D) blood group alleles in ...

    African Journals Online (AJOL)

    Kassahun Tesfaye

    2014-09-22

    Sep 22, 2014 ... Rh (D). Abstract Background: Frequency distribution of blood groups is important as it is used in mod- ern medicine ... sion practice. The need for ... The study design was approved by the Research Ethics Com- mittee, College ...

  18. Microarray Beads for Identifying Blood Group Single Nucleotide Polymorphisms

    OpenAIRE

    Drago, Francesca; Karpasitou, Katerina; Poli, Francesca

    2009-01-01

    We have developed a high-throughput system for single nucleotide polymorphism (SNP) genotyping of alleles of diverse blood group systems exploiting Luminex technology. The method uses specific oligonucleotide probes coupled to a specific array of fluorescent microspheres and is designed for typing Jka/Jkb, Fya/Fyb, S/s, K/k, Kpa/Kpb, Jsa/Jsb, Coa/Cob and Lua/Lub alleles. Briefly, two multiplex PCR reactions (PCR I and PCR II) according to the laboratory specific needs are set up. PCR I amplif...

  19. Noninvasive Antenatal Determination of Fetal Blood Group Using Next-Generation Sequencing

    DEFF Research Database (Denmark)

    Rieneck, Klaus; Clausen, Frederik Banch; Dziegiel, Morten Hanefeld

    2016-01-01

    Hemolytic disease of the fetus and newborn (HDFN) is a condition characterized by a decreased lifespan of fetal red blood cells caused by maternally produced allospecific antibodies transferred to the fetus during pregnancy. The antibodies bind to the corresponding blood group antigens on fetal r......NGS analysis holds advantages over polymerase chain reaction (PCR) determination based on allele specific amplification....

  20. Microarray Beads for Identifying Blood Group Single Nucleotide Polymorphisms.

    Science.gov (United States)

    Drago, Francesca; Karpasitou, Katerina; Poli, Francesca

    2009-01-01

    We have developed a high-throughput system for single nucleotide polymorphism (SNP) genotyping of alleles of diverse blood group systems exploiting Luminex technology. The method uses specific oligonucleotide probes coupled to a specific array of fluorescent microspheres and is designed for typing Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Co(a)/Co(b) and Lu(a)/Lu(b) alleles. Briefly, two multiplex PCR reactions (PCR I and PCR II) according to the laboratory specific needs are set up. PCR I amplifies the alleles tested routinely, namely Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, and K/k. PCR II amplifies those alleles that are typed less frequently. Biotinylated PCR products are hybridized in a single multiplex assay with the corresponding probe mixture. After incubation with R-phycoerythrin-conjugated streptavidin, the emitted fluorescence is analyzed with Luminex 100. So far, we have typed more than 2,000 subjects, 493 of whom with multiplex assay, and there have been no discrepancies with the serology results other than null and/or weak phenotypes. The cost of consumables and reagents for typing a single biallelic pair per sample is less than EUR 3.-, not including DNA extraction costs. The capability to perform multiplexed reactions makes the method markedly suitable for mass screening of red blood cell alleles. This genotyping approach represents an important tool in transfusion medicine.

  1. Heterogeneity of O blood group in India: Peeping through the window of molecular biology.

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    Gogri, Harita; Ray, Sabita; Agrawal, Snehal; Aruna, S; Ghosh, Kanjaksha; Gorakshakar, Ajit

    2018-01-01

    Molecular genotyping of ABO blood group system has identified more than 60 "O" group alleles based on the single-nucleotide polymorphisms present in the ABO gene. Heterogeneity of O group alleles has been observed in various countries from South America, Europe, Middle East, and Asia. India is a vast country with more than 1300 million population which is divided into various ethnic and tribal groups. However, very little is known about the heterogeneity of O alleles in Indians. A total of 116 O group individuals from the mixed population of Mumbai, India, were enrolled in the present study. DNA was extracted using the standard phenol-chloroform method. The exons 6 and 7 of the ABO gene were genotyped by polymerase chain reaction-single-strand conformation polymorphism and/or DNA sequencing. The genotyping results were compared with our earlier findings. Overall, ten different genotypes were identified. Three rare alleles, namely, O05, O11, and O26 were seen in the mixed group category. These results suggest that there is an internal heterogeneity in the mixed group while Dhodias and Parsis, the groups which were screened earlier, seem to be more homogenous groups. An important piece of information emerges out from this study, that is, O01O02 genotype is expressing some selective force in population groups screened in India as well as many other groups worldwide. In the future, molecular genotyping of the ABO blood group system among different ethnic and tribal Indian groups would help in generating data to fill up the gaps in the molecular ABO map of the world.

  2. A retrospective study: ABO and Rh phenotype blood group distribution among blood donors in H.N.B. Base Hospital, Srinagar, Uttarakhand, India

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    Satish Kumar

    2018-01-01

    Full Text Available Objective: To determine the prevalence of ABO and Rh blood groups based on the antigenic presence on the surface of red blood cells with respect to gender and calculate allele frequency of the blood groups. Globally, approximately 700 type red cell antigens have been identified till now. ABO and Rh blood groups play an important role in the process of blood transfusion, resolving certain medicolegal issues, parental testing, and various genetic studies. Methods: This study was conducted in H.N.B. Base Hospital, Srinagar, Uttarakhand, from January 2012 to December 2016. Relevant data of blood donors were collected from blood bank department of the hospital. Blood grouping was conducted using commercially available standard monoclonal antisera applying test tube and column agglutination techniques. Results: Out of 9883 individuals, 9333 (92.4% were males and 750 (7.6% were female individuals. The most common blood group found was B (31.68% and least common being AB (11.70%. The prevalence of Rhesus positive and negative distribution in the present studied population was found as 93.51% and 6.49%, respectively. Overall, male ABO group pattern found was shown by formula B > A > O > AB which was similar among Rh-positive male individuals while Rh-negative males' pattern was found as A > B = O > AB. In females, ABO group pattern was B > O > A > AB which was similar to Rh-positive female pattern while differs in Rh negative. The estimated allele frequencies were found as 0.2403, 0.2475, and 0.5122 for IA (p, IB (q, and IO (r, respectively. Conclusion: The most common blood group found among the Gharwali donors was B positive while the least common was AB negative, which plays an important contribution for making government policies to develop National Health Program.

  3. Aberrant allele-specific replication, independent of parental origin, in blood cells of cancer patients

    International Nuclear Information System (INIS)

    Dotan, Zohar A; Dotan, Aviva; Ramon, Jacob; Avivi, Lydia

    2008-01-01

    Allelic counterparts of biallelically expressed genes display an epigenetic symmetry normally manifested by synchronous replication, different from genes subjected to monoallelic expression, which normally are characterized by an asynchronous mode of replication (well exemplified by the SNRPN imprinted locus). Malignancy was documented to be associated with gross modifications in the inherent replication-timing coordination between allelic counterparts of imprinted genes as well as of biallelically expressed loci. The cancer-related allelic replication timing aberrations are non-disease specific and appear in peripheral blood cells of cancer patients, including those with solid tumors. As such they offer potential blood markers for non-invasive cancer test. The present study was aimed to gain some insight into the mechanism leading to the replication timing alterations of genes in blood lymphocytes of cancer patients. Peripheral blood samples derived from patients with prostate cancer were chosen to represent the cancerous status, and samples taken from patients with no cancer but with benign prostate hyperplasia were used to portray the normal status. Fluorescence In Situ Hybridization (FISH) replication assay, applied to phytohemagglutinin (PHA)-stimulated blood lymphocytes, was used to evaluate the temporal order (either synchronous or asynchronous) of genes in the patients' cells. We demonstrated that: (i) the aberrant epigenetic profile, as delineated by the cancer status, is a reversible modification, evidenced by our ability to restore the normal patterns of replication in three unrelated loci (CEN15, SNRPN and RB1) by introducing an archetypical demethylating agent, 5-azacytidine; (ii) following the rehabilitating effect of demethylation, an imprinted gene (SNRPN) retains its original parental imprint; and (iii) the choice of an allele between early or late replication in the aberrant asynchronous replication, delineated by the cancer status, is not

  4. Blood grouping based on PCR methods and agarose gel electrophoresis.

    Science.gov (United States)

    Sell, Ana Maria; Visentainer, Jeane Eliete Laguila

    2015-01-01

    The study of erythrocyte antigens continues to be an intense field of research, particularly after the development of molecular testing methods. More than 300 specificities have been described by the International Society for Blood Transfusion as belonging to 33 blood group systems. The polymerase chain reaction (PCR) is a central tool for red blood cells (RBC) genotyping. PCR and agarose gel electrophoresis are low cost, easy, and versatile in vitro methods for amplifying defined target DNA (RBC polymorphic region). Multiplex-PCR, AS-PCR (Specific Allele Polymerase Chain Reaction), and RFLP-PCR (Restriction Fragment Length Polymorphism-Polymerase Chain Reaction) techniques are usually to identify RBC polymorphisms. Furthermore, it is an easy methodology to implement. This chapter describes the PCR methodology and agarose gel electrophoresis to identify the polymorphisms of the Kell, Duffy, Kidd, and MNS blood group systems.

  5. Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival.

    Science.gov (United States)

    El Jellas, Khadija; Hoem, Dag; Hagen, Kristin G; Kalvenes, May Britt; Aziz, Sura; Steine, Solrun J; Immervoll, Heike; Johansson, Stefan; Molven, Anders

    2017-07-01

    Both serology-based and genetic studies have reported an association between pancreatic cancer risk and ABO blood groups. We have investigated this relationship in a cohort of pancreatic cancer patients from Western Norway (n = 237) and two control materials (healthy blood donors, n = 379; unselected hospitalized patients, n = 6149). When comparing patient and blood donor ABO allele frequencies, we found only the A 1 allele to be associated with significantly higher risk for pancreatic ductal adenocarcinoma (PDAC) (23.8% vs. 17.9%; OR = 1.43, P = 0.018). Analyzing phenotypes, blood group A was more frequent among PDAC cases than blood donors (50.8% vs. 40.6%; OR = 1.51, P = 0.021), an enrichment fully explained by the A 1 subgroup. Blood group O frequency was lower in cases than in blood donors (33.8% vs. 42.7%; OR = 0.69, P = 0.039). This lower frequency was confirmed when cases were compared to hospitalized patients (33.8% vs. 42.9%; OR = 0.68, P = 0.012). Results for blood group B varied according to which control cohort was used for comparison. When patients were classified according to surgical treatment, the enrichment of blood group A was most prominent among unresected cases (54.0%), who also had the lowest prevalence of O (28.7%). There was a statistically significant better survival (P = 0.04) for blood group O cases than non-O cases among unresected but not among resected patients. Secretor status did not show an association with PDAC or survival. Our study demonstrates that pancreatic cancer risk is influenced by ABO status, in particular blood groups O and A 1 , and that this association may reflect also in tumor resectability and survival. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  6. Allele and genotype frequencies of -β lactoglobulin gene in Iranian ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-08-04

    Aug 4, 2009 ... Blood samples were supplied from 80 Najdi cattle and 80 buffalo from different cities of Khouzestan province. ... The allele B of β-Lactoglobulin occurred at a higher frequency than the allele A in both. Najdi cattle and buffalo. .... that of the B allele in both groups of animals studied. Expected heterozygosity ...

  7. Gene Frequency and Heritability of Rh Blood Group Gene in 44 Human Populations

    Directory of Open Access Journals (Sweden)

    Supriyo CHAKRABORTY

    2010-09-01

    Full Text Available The frequency of RhD and Rhd alleles of Rh blood group gene was estimated in 44 human populations distributed all over the world from the RhD phenotypic data. The average frequency of RhD and Rhd allele over these populations was 0.70 and 0.30, respectively. Higher frequency of RhD allele than the expected estimate (0.50 in all the populations, under Hardy-Weinberg equilibrium condition assuming equal frequency of both alleles in the initial population, indicated inbreeding at RhD/d locus as well as natural selection for RhD allele. Very high heritability estimate (84.04% of Rh allele frequency revealed that this trait was under weak selection pressure and resulted in greater genetic variation in existing populations. It is consistent with Fishers fundamental theorem of natural selection. The results from the present study suggest that inbreeding at RhD/d locus and some other factors (possibly mutation, migration and genetic drift other than natural selection alone played major roles in changing the Rh allele frequency in these populations.

  8. Gene frequencies of ABO and Rh blood groups in Nigeria: A review

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    Abass Toba Anifowoshe

    2017-07-01

    Conclusion: The study provides information on the distribution/frequency of ABO/Rh(D blood group and their corresponding allelic proportion in a large Nigeria study. It also revealed how the Nigerian populations in the North, South, West and East vary with respect to genetic traits. This vital information will be important for population genetics and anthropology studies and may be helpful in planning for future health strategy and blueprint, particularly planning with regards to disease management and blood transfusion medicine.

  9. [Genotyping of ABO Blood Group in Partial Population of Yunnan Province by SNaPshot Technology].

    Science.gov (United States)

    Yu, S X; Zeng, F M; Jin, Y Z; Wan, H J; Zhai, D; Xing, Y M; Cheng, B W

    2017-06-01

    To detect the genotype of ABO blood group by SNaPshot technology. DNA were extracted from the peripheral blood samples with known blood groups (obtained by serology) of 107 unrelated individuals in Yunnan. Six SNP loci of the 261th, 297th, 681th, 703th, 802th, and 803th nucleotide positions were detected by SNaPshot Multiplex kit, and relevant genetics parameters were calculated. In 107 blood samples, the allele frequencies of types A, B, O A , and O G were 0.355 1, 0.168 2, 0.230 0 and 0.247 6, respectively, while that of types A G and cis AB were not detected. The genotyping results of ABO blood group were consistent with that of serologic testing. SNaPshot technology can be adapted for genotyping of ABO blood group. Copyright© by the Editorial Department of Journal of Forensic Medicine

  10. HLA-A, -B, -DRB1 allele and haplotype frequencies of 920 cord blood units from Central Chile.

    Science.gov (United States)

    Schäfer, Christian; Sauter, Jürgen; Riethmüller, Tobias; Kashi, Zahra Mehdizadeh; Schmidt, Alexander H; Barriga, Francisco J

    2016-08-01

    We present human leukocyte antigen (HLA) haplotype and allele/antigenic group frequencies derived from a data set of 920 umbilical cord blood units collected in Central Chile. HLA-A and -B genotypes were typed using sequence specific oligonucleotide probe methods while HLA-DRB1 genotypes were obtained from sequencing-based typing. The most frequent haplotype is A*29~B*44~DRB1*07:01 with an estimated frequency of 2.1%. Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  11. Blood Groups Distribution and Gene Diversity of the ABO and Rh (D Loci in the Mexican Population

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    Adrián Canizalez-Román

    2018-01-01

    Full Text Available Objective. To determine the frequency and distribution of ABO and Rh (D antigens and, additionally, investigate gene diversity and the structure of Mexican populations. Materials and Methods. Blood groups were tested in 271,164 subjects from 2014 to 2016. The ABO blood group was determined by agglutination using the antibodies anti-A, Anti-B, and Anti-D for the Rh factor, respectively. Results. The overall distribution of ABO and Rh (D groups in the population studied was as follows: O: 61.82%; A: 27.44%; B: 8.93%; and AB: 1.81%. For the Rh group, 95.58% of people were Rh (D, and 4.42% were Rh (d. Different distributions of blood groups across regions were found; additionally, genetic analysis revealed that the IO and ID allele showed an increasing trend from the north to the center, while the IA and Id allele tended to increase from the center to the north. Also, we found more gene diversity in both loci in the north compared with the center, suggesting population structure in Mexico. Conclusion. This work could help health institutions to identify where they can obtain blood products necessary for medical interventions. Moreover, this piece of information contributes to the knowledge of the genetic structure of the Mexican populations which could have significant implications in different fields of biomedicine.

  12. Comprehensive genotyping for 18 blood group systems using a multiplex ligation-dependent probe amplification assay shows a high degree of accuracy

    NARCIS (Netherlands)

    Haer-Wigman, Lonneke; Ji, Yanli; Lodén, Martin; de Haas, Masja; van der Schoot, C. Ellen; Veldhuisen, Barbera

    2013-01-01

    In recent years genotyping methods have been implemented in blood banks as alternative to comprehensive serologic typing. We evaluated a newly developed assay for convenient and comprehensive genotyping of blood group alleles based on multiplex ligation-dependent probe amplification (MLPA)

  13. Molecular bases of the ABO blood groups of Indians from the Brazilian Amazon region.

    Science.gov (United States)

    Franco, R F; Simões, B P; Guerreiro, J F; Santos, S E; Zago, M A

    1994-01-01

    Phenotype studies of ABO blood groups in most Amerindian populations revealed the exclusive presence of group O. Since group O is the result of the absence of glycosyltransferase activity, its molecular bases may be heterogeneous. We carried out ABO blood group genotyping by analysis of DNA of 30 Indians from 2 Amazonian tribes (Yanomami and Arara), and compared the findings with other populations (Caucasians and Blacks). Two segments of the glycosyltransferase gene were amplified by PCR and digested with KpnI or AluI to detect deletion or base change at positions 258 and 700, respectively. For all subjects, the gene basis of blood group O is the deletion of a single nucleotide at position 258 of the glycosyltransferase A gene, similar to that observed in Caucasoids and Negroids. DNA sequencing of limited regions of the gene supports this conclusion. This finding does not exclude, however, that a heterogeneity of the O allele may be revealed by a more extensive analysis.

  14. [A Survey for Colton and Other 3 Rare Blood Group Systems in Chinese Nanjing Han Population].

    Science.gov (United States)

    Chen, Yan; Ma, Ling; Liu, Yan-Chun

    2015-10-01

    To investigate the distribution of Colton, Diego, Kell and Yt rare blood groups in Chinese Nanjing Han population, so as to improve the transfusion capability of patients with rare blood group and to further enrich the rare-blood-donor bank. A total of 2 015 blood samples from the blood donors were selected randomly to screen the presence of K⁺ and Kp(c+) (Kell), Yt(b+) (Yt), Co(b+) (Colton), Di(a+b+) and Di(a+b-) (Digeo) antigen allele by using PCR and multiplex PCR. Out of 2005 samples, 1 case with K⁺ gene, 8 cases with Yt(b+) gene and 100 cases with Di(a+b+) gene, 2 cases with Di(a+b-) were identified, while no Kp(c+) and Co(b+) were detected. The frequencies of K⁺, Yt(b+) and Di(a+), Di(b+) are 0.0003, 0.0013 and 0.0258, 0.9742, respectively. They are very rare blood groups in Chinese Nanjing Han population.

  15. Association of duffy blood group gene polymorphisms with IL8 gene in chronic periodontitis.

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    Emília Ângela Sippert

    Full Text Available The antigens of the Duffy blood group system (DARC act as a receptor for the interleukin IL-8. IL-8 plays an important role in the pathogenesis of chronic periodontitis due to its chemotactic properties on neutrophils. The aim of this study was to investigate a possible association of Duffy blood group gene polymorphisms with the -353T>A, -845T>C and -738T>A SNPs of the IL8 gene in chronic periodontitis. One hundred and twenty-four individuals with chronic periodontitis and 187 controls were enrolled. DNA was extracted using the salting-out method. The Duffy genotypes and IL8 gene promoter polymorphisms were investigated by PCR-RFLP. Statistical analyses were conducted using the Chi square test with Yates correction or Fisher's Exact Test, and the possibility of associations were evaluated by odds ratio with a 95% confidence interval. When analyzed separately, for the Duffy blood group system, differences in the genotype and allele frequencies were not observed between all the groups analyzed; and, in nonsmokers, the -845C allele (3.6% vs. 0.4%, -845TC genotype (7.3% vs. 0.7% and the CTA haplotype (3.6% vs. 0.4% were positively associated with chronic periodontitis. For the first time to our knowledge, the polymorphisms of erythroid DARC plus IL8 -353T>A SNPs were associated with chronic periodontitis in Brazilian individuals. In Afro-Brazilians patients, the FY*02N.01 with IL8 -353A SNP was associated with protection to chronic periodontitis.

  16. Association of duffy blood group gene polymorphisms with IL8 gene in chronic periodontitis.

    Science.gov (United States)

    Sippert, Emília Ângela; de Oliveira e Silva, Cléverson; Visentainer, Jeane Eliete Laguila; Sell, Ana Maria

    2013-01-01

    The antigens of the Duffy blood group system (DARC) act as a receptor for the interleukin IL-8. IL-8 plays an important role in the pathogenesis of chronic periodontitis due to its chemotactic properties on neutrophils. The aim of this study was to investigate a possible association of Duffy blood group gene polymorphisms with the -353T>A, -845T>C and -738T>A SNPs of the IL8 gene in chronic periodontitis. One hundred and twenty-four individuals with chronic periodontitis and 187 controls were enrolled. DNA was extracted using the salting-out method. The Duffy genotypes and IL8 gene promoter polymorphisms were investigated by PCR-RFLP. Statistical analyses were conducted using the Chi square test with Yates correction or Fisher's Exact Test, and the possibility of associations were evaluated by odds ratio with a 95% confidence interval. When analyzed separately, for the Duffy blood group system, differences in the genotype and allele frequencies were not observed between all the groups analyzed; and, in nonsmokers, the -845C allele (3.6% vs. 0.4%), -845TC genotype (7.3% vs. 0.7%) and the CTA haplotype (3.6% vs. 0.4%) were positively associated with chronic periodontitis. For the first time to our knowledge, the polymorphisms of erythroid DARC plus IL8 -353T>A SNPs were associated with chronic periodontitis in Brazilian individuals. In Afro-Brazilians patients, the FY*02N.01 with IL8 -353A SNP was associated with protection to chronic periodontitis.

  17. The Rh allele frequencies in Gaza city in Palestine

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    Skaik Younis

    2011-01-01

    Full Text Available Background: The Rh blood group system is the second most clinically significant blood group system. It includes 49 antigens, but only five (D, C, E, c and e are the most routinely identified due to their unique relation to hemolytic disease of the newborn (HDN and transfusion reactions. Frequency of the Rh alleles showed variation, with regard to race and ethnic. Objectives: The purpose of the study was to document the Rh alleles′ frequencies amongst males (M and females (F in Gaza city in Palestine. Materials and Methods: Two hundred and thirty-two blood samples (110 M and 122 F were tested against monoclonal IgM anti-C,anti-c, anti-E, anti-e and a blend of monoclonal/polyclonal IgM/IgG anti-D. The expected Rh phenotypes were calculated using gene counting method. Results: The most frequent Rh antigen in the total sample was e, while the least frequent was E.The order of the combined Rh allele frequencies in both M and F was CDe > cDe > cde > CdE > cDE > Cde > CDE. A significant difference was reported between M and F regarding the phenotypic frequencies (P < 0.05. However, no significance (P > 0.05 was reported with reference to the observed and expected Rh phenotypic frequencies in either M or F students. Conclusion: It was concluded that the Rh antigens, alleles and phenotypes in Gaza city have unique frequencies, which may be of importance to the Blood Transfusion Center in Gaza city and anthropology.

  18. ABO blood groups of residents and the ABO host choice of malaria vectors in southern Iran.

    Science.gov (United States)

    Anjomruz, Mehdi; Oshaghi, Mohammad A; Sedaghat, Mohammad M; Pourfatollah, Ali A; Raeisi, Ahmad; Vatandoost, Hassan; Mohtarami, Fatemeh; Yeryan, Mohammad; Bakhshi, Hassan; Nikpoor, Fatemeh

    2014-01-01

    Recent epidemiological evidences revealed the higher prevalence of 'O' blood group in the residents of malaria-endemic areas. Also some data indicated preference of mosquitoes to 'O' group. The aim of this study was to determine ABO group ratio in the residents as well as ABO group preference of Anopheles in two malaria endemic areas in south of Iran. Agglutination method was used for ABO typing of residents. Field blood fed Anopheles specimens were tested against vertebrate DNA using mtDNA-cytB PCR-RFLP and then the human fed specimens were tested for ABO groups using multiplex allele-specific PCR. A total of 409 human blood samples were identified, of which 150(36.7%) were 'O' group followed by 113(27.6%), 109(26.7%), and 37(9.0%) of A, B, and AB groups respectively. Analyzing of 95 blood fed mosquitoes revealed that only four Anopheles stephensi had fed human blood with A(1), B(1), and AB(2) groups. Result of this study revealed high prevalence of O group in south of Iran. To our knowledge, it is the first ABO molecular typing of blood meal in mosquitoes; however, due to low number of human blood fed specimens, ABO host choice of the mosquitoes remains unknown. This study revealed that ABO blood preference of malaria vectors and other arthropod vectors deserves future research. Copyright © 2013 Elsevier Inc. All rights reserved.

  19. Discrepancy in abo blood grouping

    International Nuclear Information System (INIS)

    Khan, M.N.; Ahmed, Z.; Khan, T.A.

    2013-01-01

    Discrepancies in blood typing is one of the major reasons in eliciting a transfusion reaction. These discrepancies can be avoided through detailed analysis for the blood typing. Here, we report a subgroup of blood group type-B in the ABO system. Donor's blood was analyzed by employing commercial antisera for blood grouping. The results of forward (known antisera) and reverse (known antigen) reaction were not complimentary. A detailed analysis using the standard protocols by American Association of Blood Banking revealed the blood type as a variant of blood group-B instead of blood group-O. This is suggestive of the fact that blood group typing should be performed with extreme care and any divergence, if identified, should be properly resolved to avoid transfusion reactions. Moreover, a major study to determine the blood group variants in Pakistani population is needed. (author)

  20. Blood group genotyping: the power and limitations of the Hemo ID Panel and MassARRAY platform.

    Science.gov (United States)

    McBean, Rhiannon S; Hyland, Catherine A; Flower, Robert L

    2015-01-01

    Matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry (MALDI-TOF MS), is a sensitive analytical method capable of resolving DNA fragments varying in mass by a single nucleotide. MALDI-TOF MS is applicable to blood group genotyping, as the majority of blood group antigens are encoded by single nucleotide polymorphisms. Blood group genotyping by MALDI-TOF MS can be performed using a panel (Hemo ID Blood Group Genotyping Panel, Agena Bioscience Inc., San Diego, CA) that is a set of genotyping assays that predict the phenotype for 101 antigens from 16 blood group systems. These assays involve three fundamental stages: multiplex target-specific polymerase chain reaction amplification, allele-specific single base primer extension, and MALDI-TOFMS analysis using the MassARRAY system. MALDI-TOF MS-based genotyping has many advantages over alternative methods including high throughput, high multiplex capability, flexibility and adaptability, and the high level of accuracy based on the direct detection method. Currently available platforms for MALDI-TOF MS-based genotyping are not without limitations, including high upfront instrumentation costs and the number of non-automated steps. The Hemo ID Blood Group Genotyping Panel, developed and optimized in a collaboration between the vendor and the Blood Transfusion Service of the Swiss Red Cross in Zurich, Switzerland, is not yet widely utilized, although several laboratories are currently evaluating the MassARRAY system for blood group genotyping. Based on the accuracy and other advantages offered by MALDITOF MS analysis, in the future, this method is likely to become widely adopted for blood group genotyping, in particular, for population screening.

  1. Frequencies of Blood Group Systems MNS, Diego, and Duffy and Clinical Phases of Carrion’s Disease in Amazonas, Peru

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    Oscar Acosta

    2014-01-01

    Full Text Available Carrion’s disease (CD, is a human bartonellosis, that is, endemic in the Andes of Peru, Ecuador, and Colombia. Bartonella bacilliformis, a native hemotrophic bacteria, is the causative agent of CD, and the interaction with the host could have produced changes in the gene frequencies of erythrocyte antigens. The goal here is to investigate the relationship between allele frequencies of blood group systems MNS, Diego, and Duffy and the clinical phases of CD, within a genetic context. In this associative and analytical study, 76 individuals from Bagua Grande, the province of Utcubamba, and the department of Amazonas in Peru, were enrolled. Forty of them resided in Tomocho-Collicate-Vista Hermosa area (high prevalence of cases in chronic phase, verrucous, or eruptive phase, without previous acute phase. Thirty-six individuals were from the area of Miraflores (high prevalence of cases in acute phase only and were evaluated for blood group systems MNS, Diego, and Duffy. This study constitutes one of the first attempts at evaluating the genetic factors and clinical phases of CD. No significant statistical differences (P>0.05 between allele frequencies of blood groups MNS, Diego, and Duffy and the prevalence of chronic and acute phases were detected in the two areas of Amazonas, Peru.

  2. A Common Allele in FGF21 Associated with Sugar Intake Is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure

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    Timothy M. Frayling

    2018-04-01

    Full Text Available Summary: Fibroblast growth factor 21 (FGF21 is a hormone that has insulin-sensitizing properties. Some trials of FGF21 analogs show weight loss and lipid-lowering effects. Recent studies have shown that a common allele in the FGF21 gene alters the balance of macronutrients consumed, but there was little evidence of an effect on metabolic traits. We studied a common FGF21 allele (A:rs838133 in 451,099 people from the UK Biobank study, aiming to use the human allele to inform potential adverse and beneficial effects of targeting FGF21. We replicated the association between the A allele and higher percentage carbohydrate intake. We then showed that this allele is more strongly associated with higher blood pressure and waist-hip ratio, despite an association with lower total body-fat percentage, than it is with BMI or type 2 diabetes. These human phenotypes of variation in the FGF21 gene will inform research into FGF21’s mechanisms and therapeutic potential. : Drugs targeting the hormone FGF21 may have beneficial health effects. Variations in human DNA in the FGF21 gene provide an indication of what those effects may be. Here, we show that variation in the FGF21 gene is associated with higher blood pressure and altered body shape, despite lower total body-fat percentage. Keywords: FGF21, BMI, waist-hip ratio, blood pressure, body fat, allele, genetic variant, UK Biobank

  3. [Blood groups - minuses and pluses. Do the blood group antigens protect us from infectious diseases?].

    Science.gov (United States)

    Czerwiński, Marcin

    2015-06-25

    Human blood can be divided into groups, which is a method of blood classification based on the presence or absence of inherited erythrocyte surface antigens that can elicit immune response. According to the International Society of Blood Transfusion, there are 341 blood group antigens collected in 35 blood group systems. These antigens can be proteins, glycoproteins or glycosphingolipids, and function as transmembrane transporters, ion channels, adhesion molecules or receptors for other proteins. The majority of blood group antigens is present also on another types of cells. Due to their localization on the surface of cells, blood group antigens can act as receptors for various pathogens or their toxins, such as protozoa (malaria parasites), bacteria (Helicobacter pylori, Vibrio cholerae and Shigella dysenteriae) and viruses (Noroviruses, Parvoviruses, HIV). If the presence of group antigen (or its variant which arised due to mutation) is beneficial for the host (e.g. because pathogens are not able to bind to the cells), the blood group may become a selection trait, leading to its dissemination in the population exposed to that pathogen. There are thirteen blood group systems that can be related to pathogen resistance, and it seems that the particular influence was elicit by malaria parasites. It is generally thought that the high incidence of blood groups such as O in the Amazon region, Fy(a-b-) in Africa and Ge(-) in Papua-New Guinea is the result of selective pressure from malaria parasite. This review summarizes the data about relationship between blood groups and resistance to pathogens.

  4. Applications of blood group genotyping

    Directory of Open Access Journals (Sweden)

    Mariza A. Mota

    2006-03-01

    Full Text Available Introduction: The determination of blood group polymorphism atthe genomic level facilitates the resolution of clinical problemsthat cannot be addressed by hemagglutination. They are useful to(a determine antigen types for which currently available antibodiesare weakly reactive; (b type patients who have been recentlytransfused; (c identify fetuses at risk for hemolytic disease of thenewborn; and (d to increase the reliability of repositories of antigennegative RBCs for transfusion. Objectives: This review assessedthe current applications of blood group genotyping in transfusionmedicine and hemolytic disease of the newborn. Search strategy:Blood group genotyping studies and reviews were searched ingeneral database (MEDLINE and references were reviewed.Selection criteria: All published data and reviews were eligible forinclusion provided they reported results for molecular basis ofblood group antigens, DNA analysis for blood group polymorphisms,determination of fetal group status and applications of blood groupgenotyping in blood transfusion. Data collection: All data werecollected based on studies and reviews of blood grouppolymorphisms and their clinical applications.

  5. ASSOCIATION BETWEEN GLAUCOMA AND BLOOD GROUPS

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    F. Ghannadi R. Varmazyar

    2006-09-01

    Full Text Available There are reports from different countries that some types of glaucoma are associated with blood groups. This cross-sectional study was performed on 400 glaucomatous patients [100 patients in each group of Primary open angle glaucoma (POAG, chronic angle closure glaucoma (CACG, pseudoexfoliative glaucoma (PEXG and primary congenital glaucoma (PCG] and 400 blood donors as control group to assess the association between blood groups and glaucoma. All patients underwent ABO and Rh blood group testing. The prevalence of blood group A was 30% in the control group, 27% in POAG, 33% in CACA, 38% in PEXG and 36% in PCG. The prevalence of blood group B was 24% in the control group, 19% in POAG, 20% in CACG, 15% in PEXG and 34% in PCG (P < 0.025. The prevalence of blood group AB was 8% in the control group, 9% in POAG, 5% in CACG, 12% in PEXG, and 8% in PCG. The prevalence of blood group O was 38% in the control group, 45% in POAC, 42% in CACG, 35% in PEXG and 22% in PCG (P < 0.001. The prevalence of Rh+ was 88% in the control group, 84% in POAG, 87% in CACG, 86% in PEXG and 87% in PCG. Compared to control group, blood group B was more prevalent and blood group O was less prevalent in PCG. There was no association between other types of blood groups (ABO and Rh and PCG. There was no association between blood groups (ABO and Rh and other types of glaucoma.

  6. Heterogeneity of O blood group in India: Peeping through the window of molecular biology

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    Harita Gogri

    2018-01-01

    Results And Discussion: Overall, ten different genotypes were identified. Three rare alleles, namely, O05, O11, and O26 were seen in the mixed group category. These results suggest that there is an internal heterogeneity in the mixed group while Dhodias and Parsis, the groups which were screened earlier, seem to be more homogenous groups. An important piece of information emerges out from this study, that is, O01O02 genotype is expressing some selective force in population groups screened in India as well as many other groups worldwide. Conclusion: In the future, molecular genotyping of the ABO blood group system among different ethnic and tribal Indian groups would help in generating data to fill up the gaps in the molecular ABO map of the world.

  7. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

    Science.gov (United States)

    Astle, William J; Elding, Heather; Jiang, Tao; Allen, Dave; Ruklisa, Dace; Mann, Alice L; Mead, Daniel; Bouman, Heleen; Riveros-Mckay, Fernando; Kostadima, Myrto A; Lambourne, John J; Sivapalaratnam, Suthesh; Downes, Kate; Kundu, Kousik; Bomba, Lorenzo; Berentsen, Kim; Bradley, John R; Daugherty, Louise C; Delaneau, Olivier; Freson, Kathleen; Garner, Stephen F; Grassi, Luigi; Guerrero, Jose; Haimel, Matthias; Janssen-Megens, Eva M; Kaan, Anita; Kamat, Mihir; Kim, Bowon; Mandoli, Amit; Marchini, Jonathan; Martens, Joost H A; Meacham, Stuart; Megy, Karyn; O'Connell, Jared; Petersen, Romina; Sharifi, Nilofar; Sheard, Simon M; Staley, James R; Tuna, Salih; van der Ent, Martijn; Walter, Klaudia; Wang, Shuang-Yin; Wheeler, Eleanor; Wilder, Steven P; Iotchkova, Valentina; Moore, Carmel; Sambrook, Jennifer; Stunnenberg, Hendrik G; Di Angelantonio, Emanuele; Kaptoge, Stephen; Kuijpers, Taco W; Carrillo-de-Santa-Pau, Enrique; Juan, David; Rico, Daniel; Valencia, Alfonso; Chen, Lu; Ge, Bing; Vasquez, Louella; Kwan, Tony; Garrido-Martín, Diego; Watt, Stephen; Yang, Ying; Guigo, Roderic; Beck, Stephan; Paul, Dirk S; Pastinen, Tomi; Bujold, David; Bourque, Guillaume; Frontini, Mattia; Danesh, John; Roberts, David J; Ouwehand, Willem H; Butterworth, Adam S; Soranzo, Nicole

    2016-11-17

    Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. This effort yielded hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. Our data highlight general properties of the allelic architecture of complex traits, including the proportion of the heritable component of each blood trait explained by the polygenic signal across different genome regulatory domains. Finally, through Mendelian randomization, we provide evidence of shared genetic pathways linking blood cell indices with complex pathologies, including autoimmune diseases, schizophrenia, and coronary heart disease and evidence suggesting previously reported population associations between blood cell indices and cardiovascular disease may be non-causal. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Blood groups polymorphism (ABO, Ss, Rhesus and Duffy) in the Arabic population of Beni Mellal

    International Nuclear Information System (INIS)

    El Ossmani, H.; El Amri, H.; Bouchrif, B.; Glouib, K.; Zaoui, D.; Chafik, A.

    2008-01-01

    The present study deals with anthropogenetic profile of the Arab speaking population of the Beni Mellal region which separates areas inhabited by Mid-Atlas Berbers from those inhabited by Soth-Morroccan Arabs. The study of blood groups ABO, Rhesus, Ss,and Duffy was conducted on 131 individuals. The result shows that this population has the highest frequencies of the FyO allele (0.860) and s allele (0.524) in comparison to all Arab and Berber populations of North Africa and the Middle East. However genetic distances estimated on the basis of these four markers reveal that the population of Beni Mellal and another in the Beni Hlal region are in the same sub-cluster with populations from the Middle East. This may be attributed to the Oriental Arab ( M achrek ) origin of these two Moroccan Arab populations. (author)

  9. Blood Groups in the Kashmir Valley

    OpenAIRE

    Rafiq A.Calcutti, Mohammed Khali Lone, Showket Ahmed,Bashir A.Shah, Neelofer Jan.

    2003-01-01

    Blood groups are genetically determined and exJ1ibit polymorphism, where different populationgroups have significant difference in the frequency of each blood group. This study wasconducted to determine the frequency of ABO and Rhesus D blood groups among the blooddO:lors. A total number of 1306 blood donors attended the donor centre at SKIMS MedicalCollege Hospital for blood donation in the year 2001-02. After each donation blood sampleswere collected in separate pilot hlbes for the estimati...

  10. A brief history of human blood groups.

    Science.gov (United States)

    Farhud, Dariush D; Zarif Yeganeh, Marjan

    2013-01-01

    The evolution of human blood groups, without doubt, has a history as old as man himself. There are at least three hypotheses about the emergence and mutation of human blood groups. Global distribution pattern of blood groups depends on various environmental factors, such as disease, climate, altitude, humidity etc. In this survey, the collection of main blood groups ABO and Rh, along with some minor groups, are presented. Several investigations of blood groups from Iran, particularly a large sampling on 291857 individuals from Iran, including the main blood groups ABO and Rh, as well as minor blood groups such as Duffy, Lutheran, Kell, KP, Kidd, and Xg, have been reviewed.

  11. Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.

    Science.gov (United States)

    Balboa-Beltrán, Emilia; Cruz, Raquel; Carracedo, Angel; Barros, Francisco

    2015-07-01

    Allelic imbalance of thymidylate synthase (TYMS) is attributed to polymorphisms in the 5'- and 3'-untranslated region (UTR). These polymorphisms have been related to the risk of suffering different cancers, for example leukemia, breast or gastric cancer, and response to different drugs, among which are methotrexate glutamates, stavudine, and specifically 5-fluorouracil (5-FU), as TYMS is its direct target. A vast literature has been published in relation to 5-FU, even suggesting the sole use of these polymorphisms to effectively manage 5-FU dosage. Estimates of the extent to which these polymorphisms influence in TYMS expression have in the past been based on functional analysis by luciferase assays and quantification of TYMS mRNA, but both these studies, as the association studies with cancer risk or with toxicity or response to 5-FU, are very contradictory. Regarding functional assays, the artificial genetic environment created in luciferase assay and the problems derived from quantitative polymerase chain reactions (qPCRs), for example the use of a reference gene, may have distorted the results. To avoid these sources of interference, we have analyzed the allelic imbalance of TYMS by allelic-specific analysis in peripheral blood mononuclear cells (PBMCs) from patients.Allelic imbalance in PBMCs, taken from 40 patients with suspected myeloproliferative haematological diseases, was determined by fluorescent fragment analysis (for the 3'-UTR polymorphism), Sanger sequencing and allelic-specific qPCR in multiplex (for the 5'-UTR polymorphisms).For neither the 3'- nor the 5'-UTR polymorphisms did the observed allelic imbalance exceed 1.5 fold. None of the TYMS polymorphisms is statistically associated with allelic imbalance.The results acquired allow us to deny the previously established assertion of an influence of 2 to 4 fold of the rs45445694 and rs2853542 polymorphisms in the expression of TYMS and narrow its allelic imbalance to 1.5 fold, in our population

  12. [The impact of HLA haplotype and alleles mismatches of donor-recipient pairs on outcome of haploidentical hematopoietic stem cell transplantation with a third part cord blood unit].

    Science.gov (United States)

    Zhu, W J; He, J; Bao, X J; Yuan, X N; Li, Y; Xue, S L; Pan, Z J; Chen, J; Wu, D P

    2016-07-01

    To analyze allele mismatches of HLA- A, - B, - C, - DRB1, - DQB1 and haplotype mismatch of donor- recipient pairs on the outcome of haploidentical transplantation combined with a third part cord blood unit. 230 pairs of donor-recipient were performed HLA-A, B, C, DRB1, DQB1 typing using SBT and SSOP methods from January 2012 to December 2014. Pairs were divided into HLA- 5/10、6/10、7/10 and ≥8/10 groups according to HLA- A, B, C and DRB1 highresolution typing and matched degrees, the 3-year probability of overall survival (OS) for each group were 48.7%, 59.3%, 71.1%, 38.3% (P=0.068) respectively. HLA-6/10 matched group associated with significant favorable effect on OS compared with HLA- 5/10 matched one (P=0.041).When the HLA class I antigen matched on the recipient and donor, improved OS and event free survival (EFS) in HLA- 6/10 matched group than in HLA-5/10 matched one (P=0.017,P=0.088), especially in single HLA-A loci allele matched one (P=0.013,P=0.013), were observed. As to the third part cord blood unit, sharing the same haplotype with the recipient-donor pairs produced better platelet recovery than the misfit one (95.3%vs 86.2%,P= 0.007), similar result was found in terms of neutrophil recovery (98.8%vs 96.1% ,P=0.022). HLA locus mismatch and haplotype mismatch of the donor and recipient should be useful for selection of the most optimum donor. Co- infused of an unrelated cord blood unit sharing the same haplotype with the recipient-donor pairs could improve hematopoietic recovery.

  13. Human Platelet Antigen Alleles in 998 Taiwanese Blood Donors Determined by Sequence-Specific Primer Polymerase Chain Reaction

    Directory of Open Access Journals (Sweden)

    Shun-Chung Pai

    2013-01-01

    Full Text Available Polymorphism of human platelet antigens (HPAs leads to alloimmunizations and immune-mediated platelet disorders including fetal-neonatal alloimmune thrombocytopenia (FNAIT, posttransfusion purpura (PTP, and platelet transfusion refractoriness (PTR. HPA typing and knowledge of antigen frequency in a population are important in particular for the provision of HPA-matched blood components for patients with PTR. We have performed allele genotyping for HPA-1 through -6 and -15 among 998 platelet donors from 6 blood centers in Taiwan using sequence-specific primer polymerase chain reaction. The HPA allele frequency was 99.55, and 0.45% for HPA-1a and -1b; 96.49, and 3.51% for HPA-2a and -2b; 55.81, and 44.19% for HPA-3a and -3b; 99.75, and 0.25% for HPA-4a and -4b; 98.50, and 1.50% for HPA-5a and -5b; 97.75 and 2.25% for HPA-6a and -6b; 53.71 and 46.29% for HPA-15a and -15b. HPA-15b and HPA-3a, may be considered the most important, followed by HPA-2, -6, -1, -5, and -4 systems, as a cause of FNAIT, PTP, and PTR based on allele frequency. HPA-4b and HPA-5b role cannot be excluded based on their immunogenicity. A larger-scale study will now be conducted to confirm these hypotheses and to establish an apheresis donor database for the procurement of HPA-matched apheresis platelets for patients with PTR.

  14. Frequency distribution 0f ABO, RH blood groups and blood ...

    African Journals Online (AJOL)

    One hundred and fifty students (150) were randomly selected from the Department of Cell Biology and Genetics of University of Lagos, Akoka, Nigeria for ABO, RH blood groups and 6 haemoglobin genotypes studies. Blood group O was the highest with the percentage frequency of 55.3%, followed by blood group A (25.3%) ...

  15. Relationship between blood groups and male infertility

    International Nuclear Information System (INIS)

    Ahmed, I.; Naeem, M.; Samad, A.; Nasir, A.; Aman, Z.; Ahmed, S.; Manan, F.

    2010-01-01

    Background: Blood is man's complete and unchangeable identity. The ABO and Rh groups are recognised as major and clinically significant blood groups. Blood group antigens are not only important in relation to blood transfusion and organ transplantation, but also have been utilised in genetic research, anthropology and tracing ancestral relation of humans. The objective the present study is to examine the blood group antigens in infertile men for assessing the relationship to male infertility and to know the frequency of various blood groups among infertile males in our population. Method: A total of 1,521 patients along with 460 proven fathers as controls were recruited for the present study from both rural and urban areas of Pakistan and referred to Department of Reproductive Physiology/Health, Public Health Divisions, NIH, Islamabad, during 2002 to 2006. Blood grouping (ABO) and Rhesus factors (Rh) was done by the antigen antibody agglutination test. Results: Overall distribution of blood groups in the studied population of 1,521 subjects was 35.50%, 28.27%, 26.89% and 9.34% for blood groups O, B, A and AB respectively. The ratio of control to patient was 1:3.3. Conclusions: The present preliminary study revealed that in our population the prevalence of male infertility in blood group O is invariably higher than in all other ABO blood groups, showing a strong relationship between blood group O and male infertility. (author)

  16. Comparison between subjects with long- and short-allele carriers in the BOLD signal within amygdala during emotional tasks

    Science.gov (United States)

    Hadi, Shamil; Siadat, Mohamad R.; Babajani-Feremi, Abbas

    2012-03-01

    Emotional tasks may result in a strong blood oxygen level-dependent (BOLD) signal in the amygdala in 5- HTTLRP short-allele. Reduced anterior cingulate cortex (ACC)-amygdala connectivity in short-allele provides a potential mechanistic account for the observed increase in amygdala activity. In our study, fearful and threatening facial expressions were presented to two groups of 12 subjects with long- and short-allele carriers. The BOLD signals of the left amygdala of each group were averaged to increase the signal-to-noise ratio. A Bayesian approach was used to estimate the model parameters to elucidate the underlying hemodynamic mechanism. Our results showed a positive BOLD signal in the left amygdala for short-allele individuals, and a negative BOLD signal in the same region for long-allele individuals. This is due to the fact that short-allele is associated with lower availability of serotonin transporter (5-HTT) and this leads to an increase of serotonin (5-HT) concentration in the cACC-amygdala synapse.

  17. ABO Blood Group And Reproductive Performance | Gharoro ...

    African Journals Online (AJOL)

    ABO Blood Group And Reproductive Performance. ... Blood group A phenotype constituted 22.48%, while AB, B, and O blood groups made up 1.94, 15.28 and 60.3 percent respectively. The mean age of the ... Keywords: ABO Blood Group, Reproductive performance, population mapping, gene frequency. Journal of Mining ...

  18. Molecular – genetic variance of RH blood group system within human population of Bosnia and Herzegovina

    Directory of Open Access Journals (Sweden)

    Lejla Lasić

    2013-02-01

    Full Text Available There are two major theories for inheritance of Rh blood group system: Fisher - Race theory and Wiener theory. Aim of this study was identifying frequency of RHDCE alleles in Bosnian - Herzegovinian population and introduction of this method in screening for Rh phenotype in B&H since this type of analysis was not used for blood typing in B&H before. Rh blood group was typed by Polymerase Chain Reaction, using the protocols and primers previously established by other authors, then carrying out electrophoresis in 2-3% agarose gel. Percentage of Rh positive individuals in our sample is 84.48%, while the percentage of Rh negative individuals is 15.52%. Inter-rater agreement statistic showed perfect agreement (K=1 between the results of Rh blood system detection based on serological and molecular-genetics methods. In conclusion, molecular - genetic methods are suitable for prenatal genotyping and specific cases while standard serological method is suitable for high-throughput of samples.

  19. ABO blood groups and susceptibility to brucellosis.

    Science.gov (United States)

    Mohsenpour, Behzad; Hajibagheri, Katayon; Afrasiabian, Shahla; Ghaderi, Ebrahim; Ghasembegloo, Saeideh

    2015-01-01

    The relationship between blood groups and some infections such as norovirus, cholera, and malaria has been reported. Despite the importance of brucellosis, there is a lack of data on the relationship between blood groups and brucellosis. Thus, in this study, we examined the relationship between blood groups and brucellosis. In this case-control study, the blood groups of 100 patients with brucellosis and 200 healthy individuals were studied. Exclusion criteria for the control group consisted of a positive Coombs Wright test or a history of brucellosis. The chi-square test was used to compare qualitative variables between the two groups. The variables that met inclusion criteria for the regression model were entered into the logistic regression model. A total of 43% patients were female and 57% male; 27% were urban and 73% rural. Regression analysis showed that the likelihood of brucellosis infection was 6.26 times more in people with blood group AB than in those with blood group O (Pblood group and brucellosis. People with blood group AB were susceptible to brucellosis, but no difference was observed for brucellosis infection in terms of blood Rh type.

  20. Blood group astrology - why the AB0 blood groups do not determine the human character nor the appropriate nutrition

    Directory of Open Access Journals (Sweden)

    Martina Gajšek Grbec

    2016-04-01

    Full Text Available AB0 blood groups are inherited markers on blood cells. Since their discovery, there were numerous attempts to be attributed a wide variety of biological functions they don’t possess. The purpose of this article is primarily to inform the professional, as well as lay public that the theory of healthy nutrition based on AB0 blood groups represents nothing more than a pseudoscience used for mass exploitation and commercial purposes. ABO blood groups were attributed such characteristics by naturopathic doctor Peter D'Adamo, who on the basis of false methods and erroneous assumptions wrote a bestseller "Eat Right For Your Type". It claims that the blood groupsAB0 represent a "key to the functioning of our immune system" and that the blood group based diet represents a “key to the health of every man”. As in the case of nutrition based on the ABO blood groups, the scientific knowledge in the field of immunohematology is misused to mislead the lay public, we are obliged to explain the real meaning and the role of blood groups in health and disease, the misuse of blood groups in relation to healthy nutrition.

  1. Novel association of soluble intercellular adhesion molecule 1 and soluble P-selectin with the ABO blood group in a Chinese population.

    Science.gov (United States)

    Zhang, Wenjing; Xu, Qun; Zhuang, Yunlong; Chen, Yuanfeng

    2016-08-01

    Recent studies have reported that the ABO gene can affect circulating expression levels of soluble intercellular adhesion molecule 1 (sICAM-1) and soluble P-selectin (sP-selectin) in Caucasians. However, several factors may affect the association, including the distribution and variations of the ABO gene, ethnic diversity and the inflammatory response status. The aim of the present study was to investigate this issue in Asian subjects of various blood groups. A total of 800 blood samples were randomly selected from healthy blood donors. The ABO blood groups were examined using standard serological tests, and ABO genotypes of group A and group AB specimens were analyzed. Plasma concentrations of sICAM-1 and sP-selectin were detected by standard enzyme-linked immunosorbent assays. In healthy Chinese individuals, blood group A was detected to be significantly associated with lower circulating expression levels of sICAM-1 and sP-selectin, compared with group O. Individuals with ≥1 A1 allele had significantly lower expression levels of sICAM-1 and sP-selectin compared with all other ABO groups. The data indicate the significant association of ABO blood group antigens with sICAM-1 and sP-selectin expression levels in a healthy Chinese population, independent of the specific variations and distributions of ABO blood groups among ethnic populations. This result provides evidence for the previously unidentified role of ABO blood group antigens in the regulation of the inflammatory adhesion process. Accordingly, it can be proposed that ABO blood groups may require consideration when soluble adhesion molecules are identified as predictors for cardiovascular disease.

  2. Human genetic polymorphisms in the Knops blood group are not associated with a protective advantage against Plasmodium falciparum malaria in Southern Ghana.

    Science.gov (United States)

    Hansson, Helle H; Kurtzhals, Jørgen A; Goka, Bamenla Q; Rodriques, Onike P; Nkrumah, Francis N; Theander, Thor G; Bygbjerg, Ib Christian; Alifrangis, Michael

    2013-11-07

    The complex interactions between the human host and the Plasmodium falciparum parasite and the factors influencing severity of disease are still not fully understood. Human single nucleotide polymorphisms SNPs associated with Knops blood group system; carried by complement receptor 1 may be associated with the pathology of P. falciparum malaria, and susceptibility to disease. The objective of this study was to determine the genotype and haplotype frequencies of the SNPs defining the Knops blood group antigens; Kna/b, McCoya/b, Swain-Langley1/2 and KCAM+/- in Ghanaian patients with malaria and determine possible associations between these polymorphisms and the severity of the disease. Study participants were patients (n = 267) admitted to the emergency room at the Department of Child Health, Korle-Bu Teaching Hospital, Accra, Ghana during the malaria season from June to August in 1995, 1996 and 1997, classified as uncomplicated malaria (n = 89), severe anaemia (n = 57) and cerebral malaria (n = 121) and controls who did not have a detectable Plasmodium infection or were symptomless carriers of the parasite (n = 275). The frequencies were determined using a post-PCR ligation detection reaction-fluorescent microsphere assay, developed to detect the SNPs defining the antigens. Chi-square/Fisher's exact test and logistic regression models were used to analyse the data. As expected, high frequencies of the alleles Kna, McCb, Sl2 and KCAM- were found in the Ghanaian population. Apart from small significant differences between the groups at the Sl locus, no significant allelic or genotypic differences were found between the controls and the disease groups or between the disease groups. The polymorphisms define eight different haplotypes H1(2.4%), H2(9.4%), H3(59.8%), H4(0%), H5(25.2%), H6(0.33%), H7(2.8%) and H8(0%). Investigating these haplotypes, no significant differences between any of the groups were found. The results confirm earlier findings of high frequencies of

  3. Beta-fibrinogen allele frequencies in Peruvian Quechua, a high-altitude native population.

    Science.gov (United States)

    Rupert, J L; Devine, D V; Monsalve, M V; Hochachka, P W

    1999-06-01

    Elevated hematocrits, which are found in many high-altitude populations, increase the oxygen-carrying capacity of blood and may represent an adaptation to hypoxic environments. However, as high hematocrit increases blood viscosity, which in turn is associated with hypertension and heart disease, it may be advantageous for high-altitude populations to limit other factors that contribute to increased blood viscosity. One such factor is the plasma concentration of the coagulation protein fibrinogen. Several common polymorphisms in the beta-fibrinogen gene have been identified that affect fibrinogen concentrations. We determined the allele frequencies of three of these polymorphisms (G/A-455(HaeIII), C/T-148(HindIII), and G/A+448(MnlI)) in sample groups drawn from three populations: Quechua-speaking natives living at over 3,200 m in the Peruvian Andes, North American natives (Na-Dene) from coastal British Columbia, and Caucasian North Americans. The frequencies of the alleles previously shown to be associated with increased fibrinogen levels were so low in the Quechuas that their presence could be accounted for solely by genetic admixture with Caucasians. Frequencies in the Na-Dene, a Native American group unrelated to the Quechua, were not significantly different from those in Caucasians.

  4. Molecular blood grouping of donors.

    Science.gov (United States)

    St-Louis, Maryse

    2014-04-01

    For many decades, hemagglutination has been the sole means to type blood donors. Since the first blood group gene cloning in the early 1990s, knowledge on the molecular basis of most red blood cell, platelet and neutrophil antigens brought the possibility of using nucleotide-based techniques to predict phenotype. This review will summarized methodologies available to genotype blood groups from laboratory developed assays to commercially available platforms, and how proficiency assays become more present. The author will also share her vision of the transfusion medicine future. The field is presently at the crossroads, bringing new perspectives to a century old practice. Copyright © 2014 Elsevier Ltd. All rights reserved.

  5. ABO blood group distribution and ischaemic heart disease

    International Nuclear Information System (INIS)

    Lutfullah, A.; Bhatti, T.A.; Hanif, A.; Shaikh, S.H.

    2011-01-01

    To study the association of ABO blood groups with ischaemic heart disease (IHD) in our setting. Analytic comparative study. Department of Cardiology, Mayo hospital, Lahore over a period of two years from January 2008 to December 2009. The study group included 907 patients of IHD. The distribution of ABO blood groups in IHD patients was compared with the control group of 907 non-IHD individuals. Data was analyzed using SPSS 16. Chi-square test for significance was used. P-value less than 0.05 was taken as significant. In this study, the following pattern of ABO blood groups was observed in IHD patients and non-IHD patients respectively : Blood group A 251 (27.67%) and 248 (27.34%); Blood group B 329 (36.27%) and 358 (39.47%); Blood group O 235 (25.90%) and 240 (24.46%); Blood group AB 92 (10.14%) and 61 (6.72%), P-value = 0.06. There is no association of ABO blood groups and ischaemic heart disease. (author)

  6. Genetic polymorphism of blood groups and erythrocytes enzymes in population groups of the Republic of Macedonia.

    Science.gov (United States)

    Efremovska, Lj; Schmidt, H D; Scheil, H G; Gjorgjevic, D; Nikoloska Dadic, E

    2007-12-01

    This study presents the results of an examination of 3 blood-group systems (ABO, Rhesus, and P1) and erythrocyte enzymes (ADA, AK, ALADH, PGD, SAHH, PGM1, PGM3, GPT, GOT, ACP, UMPK, ESD and GLO) in populations that reside in R. Macedonia. Four population samples from the Republic of Macedonia (129 Macedonians from Skopje, 98 Albanians from Skopje, 95 Aromanians from Krusevo, 102 Aromanians from Stip) were included in the study. A comparison of the obtained results with data from literature on other Balkan populations has been made. The results of the comparison of the studied alleles indicate relatively small genetic distances among the studied populations. The obtained dendrograms indicate a larger homogeneity in the large Balkan populations, and a manifest trend of separating the Aromanian population of the Stip region. A larger separation is characteristic in the Greek population of Thrace.

  7. ABO blood groups and malaria related clinical outcome.

    Science.gov (United States)

    Deepa; Alwar, Vanamala A; Rameshkumar, Karuna; Ross, Cecil

    2011-03-01

    The study was undertaken to correlate the blood groups and clinical presentations in malaria patients and to understand the differential host susceptibility in malaria. From October 2007 to September 2008, malaria positive patients' samples were evaluated in this study. Hemoglobin, total leukocyte count, and platelet count of each patient were done on an automated cell counter. After determining the blood groups, malarial species and the severity of clinical course were correlated. A total of 100 patients were included in the study, of which 63 cases were positive for Plasmodium falciparum and 37 cases were positive for P. vivax infection and 11 patients had mixed infection. The results of the blood groups showed 22 - 'A' group, 42 - 'B' group, 35 - 'O' group and 1 was 'AB' group. When the clinical courses between different groups were compared using the following parameters for severe infection--a parasitic load of >10/1000 RBCs, severe anemia with hemoglobin 101°F and other organ involvement, it was observed that 'O' group had an advantage over other the groups. The difference in rosetting ability between red blood cells of different 'ABO' blood groups with a diminished rosetting potential in blood group 'O' red blood cells was due to the differential host susceptibility. 'O' group had an advantage over the other three blood groups. Based on literature and the results of this study, the diminished rosetting potential in blood group 'O' red blood cells is suggested as the basis for the differential host susceptibility.

  8. Tissue distribution of histo-blood group antigens

    DEFF Research Database (Denmark)

    Ravn, V; Dabelsteen, Erik

    2000-01-01

    carrier carbohydrate chains. Histo-blood group antigens are found in most epithelial tissues. Meanwhile, several factors influence the type, the amount, and the histological distribution of histoblood group antigens, i.e. the ABO, Lewis, and saliva-secretor type of the individual, and the cell- and tissue......The introduction of immunohistochemical techniques and monoclonal antibodies to specific carbohydrate epitopes has made it possible to study in detail the tissue distribution of histo-blood group antigens and related carbohydrate structures. The present paper summarizes the available data...... concerning the histological distribution of histo-blood group antigens and their precursor structures in normal human tissues. Studies performed have concentrated on carbohydrate antigens related to the ABO, Lewis, and TTn blood group systems, i.e. histo-blood group antigens carried by type 1, 2, and 3 chain...

  9. ABO blood group and risk of cancer

    DEFF Research Database (Denmark)

    Vasan, Senthil K; Hwang, Jinseub; Rostgaard, Klaus

    2016-01-01

    groups and site-specific cancer risk in a large cohort of healthy blood donors from Sweden and Denmark. RESULTS: A total of 1.6 million donors were followed over 27 million person-years (20 million in Sweden and 7 million in Denmark). We observed 119,584 cancer cases. Blood groups A, AB and B were......INTRODUCTION: The associations between ABO blood group and cancer risk have been studied repeatedly, but results have been variable. Consistent associations have only been reported for pancreatic and gastric cancers. MATERIALS AND METHODS: We estimated associations between different ABO blood...... associated either with increased or decreased risk of cancer at 13 anatomical sites (p≤0.05), compared to blood group O. Consistent with assessment using a false discovery rate approach, significant associations with ABO blood group were observed for cancer of the pancreas, breast, and upper gastrointestinal...

  10. Distribution of blood groups in blood donors in the blood bank of Jagdalpur, Bastar district, Chhattisgarh

    Directory of Open Access Journals (Sweden)

    Sachin A Badge

    2017-01-01

    Full Text Available Aims and Objectives: The incidence of ABO and rhesus (Rh groups varies markedly in different races, ethnic groups, and socioeconomic groups in different parts of the world. The frequencies of ABO and Rh blood groups vary from one population to another and time to time in the same region. The present study was carried out to find the distribution of blood group in rural and tribal populations of Bastar district of Chhattisgarh. Materials and Methods: The present retrospective study was carried out at late Shri Baliram Kashyap Memorial Government Medical College and Maharani Hospital blood bank, Jagdalpur, Bastar district, Chhattisgarh, India, during the 2-year period from January 2014 to December 2015. The blood collections were taken from the voluntary donors at outdoor blood donation camp and in-house blood bank as well as from replacement donors at blood bank. Totally 12,852 donors were considered medically fit and accepted for blood donation during the study period. Results: Out of the total 12,852 donors, most of the donors, i.e., 3996 (31.09% were with blood Group O followed by B (30.44%, A (24.95%, and AB (13.52%. Out of the 12,852 blood donors, majority, i.e., 12,779 (99.43% were male and 73 (0.57% were female. Maximum blood donors, i.e., 12,777 (99.42% were Rh positive while only 75 (0.58% were Rh negative. Conclusion: The knowledge of distribution of ABO and Rh blood groups at local and regional levels is helpful in effective management of blood banks and safe blood transfusion services.

  11. Cardiovascular disease and ABO blood-groups in Africans. Are blood-group A individuals at higher risk of ischemic disease?: A pilot study.

    Science.gov (United States)

    Ba, Djibril Marie; Sow, Mamadou Saidou; Diack, Aminata; Dia, Khadidiatou; Mboup, Mouhamed Cherif; Fall, Pape Diadie; Fall, Moussa Daouda

    2017-12-01

    Since the discovery of the ABO blood group system by Karl Landsteiner in 1901, several reports have suggested an important involvement of the ABO blood group system in the susceptibility to thrombosis. Assessing that non-O blood groups in particular A blood group confer a higher risk of venous and arterial thrombosis than group O.Epidemiologic data are typically not available for all racial and ethnics groups.The purpose of this pilot study was to identify a link between ABO blood group and ischemic disease (ID) in Africans, and to analyze whether A blood group individuals were at higher risk of ischemic disease or not. A total of 299 medical records of patients over a three-year period admitted to the cardiology and internal medicine department of military hospital of Ouakam in Senegal were reviewed. We studied data on age, gender, past history of hypertension, diabetes, smoking, sedentarism, obesity, hyperlipidemia, use of estrogen-progestin contraceptives and blood group distribution.In each blood group type, we evaluated the prevalence of ischemic and non-ischemic cardiovascular disease. The medical records were then stratified into two categories to evaluate incidence of ischemic disease: Group 1: Patients carrying blood-group A and Group 2: Patients carrying blood group non-A (O, AB and B). Of the 299 patients whose medical records were reviewed, 92 (30.8%) were carrying blood group A, 175 (58.5%) had blood group O, 13 (4.3%) had blood group B, and 19 (6.4%) had blood group AB.The diagnosis of ischemic disease (ID) was higher in patients with blood group A (61.2%) than in other blood groups, and the diagnosis of non-ischemic disease (NID) was higher in patients with blood group O (73.6%) compared to other groups. In patients with blood group B or AB compared to non-B or non-AB, respectively there was no statistically significant difference in ID incidence.Main risk factor for ID was smoking (56.5%), hypertension (18.4%) and diabetes (14.3%).In our study

  12. Frequency of ABO and Rhesus blood groups among blood donors ...

    African Journals Online (AJOL)

    ... the frequency of. ABO and Rhesus blood groups amongst blood donors in Lagos, Nigeria and ... geographical information that can advance the fields of blood transfusion, organ transplantation ..... alternative medicine in the management of ...

  13. Relative frequencies of DRB1*11 alleles and their DRB3 associations in five major population groups in a United States bone marrow registry.

    Science.gov (United States)

    Tang, T F; Huang, A Y; Pappas, A; Slack, R; Ng, J; Hartzman, R J; Hurley, C K

    2000-08-01

    One hundred sixty-one individuals from each of five US population groups, Caucasians (CAU), African Americans (AFA), Asians/Pacific Islanders (API), Hispanics (HIS), and Native Americans (NAT), were randomly selected from a volunteer bone marrow registry database consisting of 14,452 HLA-DRB1*11 positive individuals. This sampling provided at least an 80% probability of detecting a rare allele that occurred at 1% in the DRB1*11 positive population. Samples were typed for DRB1*11 alleles by polymerase chain reaction-sequence specific oligonucleotide probe typing (PCR-SSOP). A total of 10 DRB1*11 alleles out of 27 possible alleles were detected. The distribution and diversity of DRB1*11 alleles varied among populations although DRB1*1101 was the predominant DRB1*11 allele in all populations. Caucasians were the least diversified; only four common alleles (DRB1*1101-*1104) were observed. As well as the four common alleles, other groups also carried one or two other less frequent alleles including DRB1*1105 (API), *1106 (API), *1110 (AFA), *1114 (HIS), *1115 (NAT), and *1117 (AFA). A subset (418) of these individuals were also typed for DRB3 alleles. Most (97.6%) showed a strong association of DRB1*11 with DRB3*0202.

  14. ABO blood groups and rheumatic diseases.

    Science.gov (United States)

    Çildağ, Songül; Kara, Yasemin; Şentürk, Taşkın

    2017-12-01

    Various genetic and environmental risk factors have been shown to be associated with the incidence of rheumatic diseases. However, the pathogenesis of rheumatic diseases poorly understood. Several studies have shown associations of ABO blood groups with various diseases. Our study aimed to determine whether there is an association between the types of rheumatic diseases and ABO and Rh blood groups. The study included the patients, followed up at the Immunology-Rheumatology clinic between January 2016 and December 2016 for diagnosis of rheumatic disease, who had an ABO Rh blood data. Age, gender, type of rheumatic disease, ABO Rh blood groups were recorded. When 823 patients were assessed for blood types, 42.5% patients had A type, 33.2% had O type, 15.4% had B type, and 8.9% had AB type. There was significant difference in the distribution of blood types in rheumatic diseases. While SpA, vasculitis, UCTD, Behçet's and RA were more common in the patients with A blood type; FMF, SLE, SSc and SjS were more common in the patients with O blood type. In addition, the blood type where all the diseases are observed the least commonly was AB. There was significant difference in the distribution of Rh factor in rheumatic diseases. 92.2% patients were Rh positive and 7.8% patients were Rh negative. In our study, we thought that the higher incidence of different rheumatic diseases in different blood types was associated with different genetic predisposition.

  15. Relationship between Serum Iron Profile and Blood Groups among the Voluntary Blood Donors of Bangladesh.

    Science.gov (United States)

    Hoque, M M; Adnan, S D; Karim, S; Al-Mamun, M A; Faruki, M A; Islam, K; Nandy, S

    2016-04-01

    Blood donation results in a substantial iron loss and subsequent mobilization from body stores. Chronic iron deficiency is a well-recognized complication of regular blood donation. The present study conducted to compare the level of serum ferritin, serum iron, total iron binding capacity (TIBC) and percentage transferrin saturation in different ABO and Rhesus type blood groups among the voluntary blood donors of Bangladesh. The present prospective study included 100 healthy voluntary donors attending at Department of Blood Transfusion, Dhaka Medical College, Dhaka between the periods of July 2013 to Jun 2014. From each donor 10mL venous blood sample was taken and divided into heparinized and non-heparinized tubes for determination of hemoglobin (Hb), hematocrit (Hct), serum iron (SI), total iron binding capacity (TIBC) and serum ferritin by standard laboratory methods. Percentage of transferrin saturation (TS) calculated from serum iron and TIBC. Data were analyzed with SPSS (version 16) software and comparisons between groups were made using student's t-test and one way ANOVA. In the present study mean±SD of age of the respondents was 27.2±6.5 years with a range of 18 to 49 years and 81.0% were male and 19.0% were female. Among the donors 18.0% had blood group A, 35.0% had blood group B, 14.0% had blood group AB and 33.0% had blood group O. Among the donors 91.0% had rhesus positive and 9.0% had rhesus negative. Donors with blood group O had lowest haemoglobin, serum iron and transferring saturation levels. Donors with blood group A had highest TIBC level. Donors with blood group B had lowest serum ferritin level. An independent samples 't' test showed statistically significant difference in serum ferritin and percentage transferrin saturation between blood group AB and blood group O and in percentage transferrin saturation between blood group B and blood group O. One way ANOVA showed that there is no significant difference in haemoglobin, serum iron, serum

  16. Influence of ABO blood group on sports performance.

    Science.gov (United States)

    Lippi, Giuseppe; Gandini, Giorgio; Salvagno, Gian Luca; Skafidas, Spyros; Festa, Luca; Danese, Elisa; Montagnana, Martina; Sanchis-Gomar, Fabian; Tarperi, Cantor; Schena, Federico

    2017-06-01

    Despite being a recessive trait, the O blood group is the most frequent worldwide among the ABO blood types. Since running performance has been recognized as a major driver of evolutionary advantage in humans, we planned a study to investigate whether the ABO blood group may have an influence on endurance running performance in middle-aged recreational athletes. The study population consisted of 52 recreational, middle-aged, Caucasian athletes (mean age: 49±13 years, body mass index, 23.4±2.3 kg/m 2 ), regularly engaged in endurance activity. The athletes participated to a scientific event called "Run for Science" (R4S), entailing the completion of a 21.1 km (half-marathon) run under competing conditions. The ABO blood type status of the participants was provided by the local Service of Transfusion Medicine. In univariate analysis, running performance was significantly associated with age and weekly training, but not with body mass index. In multiple linear regression analysis, age and weekly training remained significantly associated with running performance. The ABO blood group status was also found to be independently associated with running time, with O blood type athletes performing better than those with non-O blood groups. Overall, age, weekly training and O blood group type explained 62.2% of the total variance of running performance (age, 41.6%; training regimen, 10.5%; ABO blood group, 10.1%). The results of our study show that recreational athletes with O blood group have better endurance performance compared to those with non-O blood group types. This finding may provide additional support to the putative evolutionary advantages of carrying the O blood group.

  17. Associations of anti-beta2-glycoprotein I autoantibodies with HLA class II alleles in three ethnic groups.

    Science.gov (United States)

    Arnett, F C; Thiagarajan, P; Ahn, C; Reveille, J D

    1999-02-01

    To determine any HLA associations with anti-beta2-glycoprotein I (anti-beta2GPI) antibodies in a large, retrospectively studied, multiethnic group of 262 patients with primary antiphospholipid antibody syndrome (APS), systemic lupus erythematosus (SLE), or another connective tissue disease. Anti-beta2GPI antibodies were detected in sera using an enzyme-linked immunosorbent assay. HLA class II alleles (DRB1, DQA1, and DQB1) were determined by DNA oligotyping. The HLA-DQB1*0302 (DQ8) allele, typically carried on HLA-DR4 haplotypes, was associated with anti-beta2GPI when compared with both anti-beta2GPI-negative SLE patients and ethnically matched normal controls, especially in Mexican Americans and, to a lesser extent, in whites. Similarly, when ethnic groups were combined, HLA-DQB1*0302, as well as HLA-DQB1*03 alleles overall (DQB1*0301, *0302, and *0303), were strongly correlated with anti-beta2GPI antibodies. The HLA-DR6 (DR13) haplotype DRB1*1302; DQB1*0604/5 was also significantly increased, primarily in blacks. HLA-DR7 was not significantly increased in any of these 3 ethnic groups, and HLA-DR53 (DRB4*0101) was increased in Mexican Americans only. Certain HLA class II haplotypes genetically influence the expression of antibodies to beta2GPI, an important autoimmune response in the APS, but there are variations in HLA associations among different ethnic groups.

  18. [Application of multiplex PCR for the screening of genotyping system for the rare blood groups Fy(a-), s-,k-,Di(b-) and Js(b-)].

    Science.gov (United States)

    Jiao, Wei; Xie, Li; Li, Hailan; Lan, Jiao; Mo, Zhuning; Yang, Ziji; Liu, Fei; Xiao, Ruiping; He, Yunlei; Ye, Luyi; Zhu, Ziyan

    2014-04-01

    To screen rare blood groups Fy(a-), s-, k-, Di(b-) and Js(b-) in an ethnic Zhuang population. Sequence-specific primers were designed based on single nucleotide polymorphism (SNP) sites of blood group antigens Fy(b) and s. A specific multiplex PCR system I was established. Multiplex PCR system II was applied to detect alleles antigens Di(b), k, Js(b)1910 and Js(b) 2019 at the same time. The two systems was were used to screen for rare blood group antigens in 4490 randomly selected healthy donors of Guangxi Zhuang ethnic origin. We successfully made the multiplex PCR system I. We detected the rare blood group antigens using the two PCR system. There are five Fy(a-), three s(-), two Di(b-) in 4490 Guangxi zhuang random samples. The multiplex PCR system I has achieved good accuracy and stability. With multiplex PCR systems I and II, 4490 samples were screened. Five Fy(a-), three s(-) and two Di(b-) samples were discovered. Multiplex PCR is an effective methods, which can be used for high throughput screening of rare blood groups. The rare blood types of Guangxi Zhuang ethnic origin obtained through the screening can provide valuable information for compatible blood transfusion. Through screening we obtained precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions.

  19. Association of ABO and Rh Blood Groups to Blood-Borne Infections among Blood Donors in Tehran-Iran.

    Science.gov (United States)

    Mohammadali, Fatemeh; Pourfathollah, Aliakbar

    2014-07-01

    The aim of this study was to investigate the prevalence of hepatitis B, hepatitis C, HIV and syphilis infections in blood donors referred to Tehran Blood Transfusion Center (TBTC), and determine any association between blood groups and blood- borne infections between the years of 2005 and 2011. This was a retrospective study conducted at TBTC. All of the donor serum samples were screened for HBV, HCV, HIV and syphilis by using third generation ELISA kits and RPR test. Initial reactive samples were tested in duplicate. Confirmatory tests were performed on all repeatedly reactive donations. Blood group was determined by forward and reverse blood grouping. The results were subjected to chi square analysis for determination of statistical difference between the values among different categories according to SPSS program. Overall, 2031451 donor serum samples were collected in 2005-2011. Totally, 10451 were positive test for HBV, HCV, HIV and syphilis. The overall seroprevalence of HBV, HCV, HIV, and syphilis was 0.39%, 0.11%, 0.005%, and 0.010%, respectively. Hepatitis B and HIV infections were significantly associated with blood group of donors (P blood group "A" and percentage of HBs Ag was lower in donors who had blood group O. There was no significant association between Hepatitis C and syphilis infections with ABO and Rh blood groups (P>0.05). Compared with neighboring countries and the international standards, prevalence of blood-borne infections is relatively low.

  20. Relationship between ABO blood groups and oral cancer

    Directory of Open Access Journals (Sweden)

    Bushranaaz Fathima Jaleel

    2012-01-01

    Conclusion: By employing a simple blood grouping test during community field programs, people with blood group A in the age group of 40-59 years having tobacco chewing habits can be apprised that they are more at risk to develop oral cancer than people with other blood groups.

  1. A survey on blood group determination

    Science.gov (United States)

    Radhika, K.; Sowjanya, S. J.; Ramya, T.

    2018-04-01

    Detection of blood group is an essential factor in critical conditions before performing blood transfer. At presently tests are conducted by lab technicians manually in the laboratory. When the test is done by technicians with large samples it becomes monotonous to do and sometimes it leads to incorrect results and even its time consuming to get the result. The research survey proposal is to reduce the physical work to identify the blood group with a paper-based device. The paper is having a long thermometer with two ends. By using this we can detect the blood type by changing the color of the paper. Chemical reactions between dye, Bromo creosol green, and blood serum proteins, were performed to test the blood sample. The paper becomes teal or brown color, depending on whether the association of antibodies and antigens are present. It gives the result within 30 seconds, which is quicker than traditional detection system. The tested blood sample had a good accuracy rate.

  2. HLA-DQBl*0402 alleles polymorphisms detected in Javanese HIV patients with positive anti-Toxoplasma gondii IgM

    Science.gov (United States)

    Sari, Yulia; Haryati, Sri; Prasetyo, Afiono Agung; Hartono, Adnan, Zainal Arifin

    2017-02-01

    The human leukocyte antigen (HLA)-DQB1 gene polymorphisms may associated with the infection risk of Toxoplasma gondii in HIV patients. The HLA-DQB1*0402 in HIV-1-positive patients could be considered risk factors for developing neurological opportunistic infections, mainly Toxoplasma encephalitis. However, the HLA-DQB1*0402 gene polymorphisms status in the Javanese HIV patients is unknown. This study evaluated the prevalence of HLA-DQB*0402 alleles polymorphisms in Javanese HIV patients with positive anti-Toxoplasma gondii IgM status. Since 2009 our research group performing a molecular epidemiology of blood borne viruses in Central Java Indonesia, by collecting the epidemiological and clinical data from the high risk communities. All blood samples were screened for blood borne pathogens by serological and molecular assays including for HIV and Toxoplasma gondii. The genomic DNA was isolated from the whole blood samples. Genetic polymorphisms of HLA-DQB1*0402 alleles were detected with polymerase chain reaction-sequence-specific primers (PCR-SSPs) technique. The genotypes were defined according to generated fragment patterns in the agarose gel electrophoresis analysis of PCR products. All of the samples were tested at least in duplicate. HLA-DQB1*0402 alleles were detected in 20.8% (16/77) patients and not detected in all HIV positive samples with negative anti-Toxoplasma gondii IgM status (n= 200). The HLA-DQB1*0402 alleles polymorphisms were detected in Javanese HIV patients with positive anti-Toxoplasma gondii IgM. The polymorphisms found may have association with the infection risk of Toxoplasma gondii in HIV patients.

  3. Is There an Association between Keloids and Blood Groups?

    Science.gov (United States)

    Mouhari-Toure, Abas; Saka, Bayaki; Kombaté, Koussaké; Akakpo, Sefako; Egbohou, Palakiyem; Tchangaï-Walla, Kissem; Pitche, Palokinam

    2012-01-01

    Objective. The aim of the study is to investigate the possible associations between the blood groups ABO and Rhesus systems and the presence of keloids in patients with black skin. Method. This case-control study was conducted between September 2007 and August 2011 comparing dermatologic outpatients with keloids to matched controls recruited in preanesthetic consultation at Tokoin Teaching Hospital of Lomé (Togo). Results. The distribution of different ABO blood groups and Rhesus blood groups in both groups (cases versus controls) was not significantly different. This distribution of different blood groups was superimposed on the general population of blood donors at the National Blood Transfusion Center of Lomé. Univariate analysis between each blood group and the presence of keloid does not yield any statistically significant association between blood groups and presence of keloids in the subjects. Conclusion. The study shows no significant association between blood groups and the presence of keloids in our patients. Further investigation needs to be conducted to elucidate this hypothesis further by conducting multicenter studies of several ethnic groups.

  4. Frequency of the CCRD32 allele in Brazilians: a study in colorectal cancer and in HTLV-I infection

    Directory of Open Access Journals (Sweden)

    Pereira Rinaldo W.

    2000-01-01

    Full Text Available The identification of a 32-bp deletion in the cc-chemokine receptor-5 gene (CCR5delta32 allele that renders homozygous individuals highly resistant to HIV infection has prompted worldwide investigations of the frequency of the CCR5delta32 allele in regional populations. It is important to ascertain if CCR5delta32 is a factor to be considered in the overall epidemiology of HIV in individual populations. With this in mind we determined the CCR5delta32 allele frequency in a large sample (907 individuals of the southeastern Brazilian urban population, stratified as follows: 322 healthy unrelated individuals, 354 unselected colorectal cancer patients, and 229 blood donors. The three groups displayed essentially identical allelic frequencies of CCR5delta32 and pairwise comparisons did not show significant differences. Thus, our results can be pooled to provide a reliable estimate of the CCR5delta32 allele frequency in the southeastern Brazil of 0.053 ± 0.005. The blood donors comprised 50 HTLV-I serologically negative individuals, 115 non-symptomatic individuals HTLV-I positive by ELISA but with indeterminate Western blot results, 49 healthy blood donors HTLV-I positive both at ELISA and Western blot and 15 patients with clinical spinal cord disease (HAM. A suggestive trend was observed, with the CCR5delta32 frequencies decreasing progressively in these four categories. However, when we applied Fischer's exact test no significant differences emerged. We believe that further studies in larger cohorts should be performed to ascertain whether the CCR5delta32 allele influences the chance of becoming infected or developing clinical symptoms of HTLV-I infection.

  5. HLA-DR alleles among Pakistani patients of coeliac disease

    International Nuclear Information System (INIS)

    Saleem, N.; Ahmed, T.A.; Bashir, M.; Ali, S.; Iqbal, M.

    2013-01-01

    Objectives: To investigate whether certain DR alleles might also contribute to the genetic susceptibility among Coeliac disease patients in Pakistan. Methods: The case-control study was conducted at the Military Hospital, Rawalpindi, from October 2011 to January 2012, and analysed 25 children diagnosed to have coeliac disease as per the criteria set by the European Society of Paediatric Gastroenterology and Nutrition, which included histopathological alterations in duodenal biopsies, clinical response to gluten withdrawal, and presence of anti-endomyseal antibodies. Patients were compared with a group of 150 healthy subjects. Dioxyribonucleic acid was extracted from peripheral blood collected in ethylenediaminetetraacetic acid.K3. Human leukocyte antigen DRB1 typing was carried out on allele level (DRB1*01 - DRB1*16) using sequence specific primers. Human leukocyte antigen type was determined by agarose gel electrophoresis and results were recorded. Phenotype frequency of various alleles among the patient group and the control group was calculated by direct counting, and significance of their association was determined by Fisher Exact Test. Results: A total of 11 (44%) female paediatric coeliac patients in age range 1-9 (mean 7.2+-4.8 years) and 14 (56%) male paediatric patients in the age range 6-14 (mean 8.6+-5.1 years) were genotyped for HLA-DRB1 loci. A statistically significant positive association of the disease with HLA-DRB1*03 (n=23; 92% versus n=31; 21% in controls, p <0.01) was observed. Conclusion: HLA-DRB1*03 is associated with increased risk of developing coeliac disease. (author)

  6. Antibody to histo-blood group A antigen neutralizes HIV produced by lymphocytes from blood group A donors but not from blood group B or O donors

    DEFF Research Database (Denmark)

    Arendrup, M; Hansen, J E; Clausen, H

    1991-01-01

    Three virus isolates HTLV-IIIB/lyA, HTLV-IIIB/lyB and HTLV-IIIB/lyO, obtained by passaging and propagating the HTLV-IIIB/H9 isolate in three separate cultures of mixed peripheral blood mononuclear cells (PBMC) from donors of blood type A, B or O, respectively, were tested for susceptibility...... for virus neutralization by the monoclonal antibody (MAb) AH16 directed against the blood group A epitope. MAb AH16 was previously shown to inhibit cell-free virus infection using HTLV-IIIB propagated in H9 cells. AH16 showed a concentration-dependent inhibition of the HTLV-IIIB/lyA isolate but did...... not inhibit the HTLV-IIIB/lyB or the HTLV-IIIB/lyO isolate. Specificity of the MAb-mediated inhibition was shown using A-antigen (tetrasaccharide). Thus, HIV infection of PBMC from donors with blood type A appears to induce expression of host-cell-encoded carbohydrate blood group A epitope on HIV which can...

  7. Antibody to histo-blood group A antigen neutralizes HIV produced by lymphocytes from blood group A donors but not from blood group B or O donors

    DEFF Research Database (Denmark)

    Arendrup, M; Hansen, J E; Clausen, H

    1991-01-01

    Three virus isolates HTLV-IIIB/lyA, HTLV-IIIB/lyB and HTLV-IIIB/lyO, obtained by passaging and propagating the HTLV-IIIB/H9 isolate in three separate cultures of mixed peripheral blood mononuclear cells (PBMC) from donors of blood type A, B or O, respectively, were tested for susceptibility...... not inhibit the HTLV-IIIB/lyB or the HTLV-IIIB/lyO isolate. Specificity of the MAb-mediated inhibition was shown using A-antigen (tetrasaccharide). Thus, HIV infection of PBMC from donors with blood type A appears to induce expression of host-cell-encoded carbohydrate blood group A epitope on HIV which can...... for virus neutralization by the monoclonal antibody (MAb) AH16 directed against the blood group A epitope. MAb AH16 was previously shown to inhibit cell-free virus infection using HTLV-IIIB propagated in H9 cells. AH16 showed a concentration-dependent inhibition of the HTLV-IIIB/lyA isolate but did...

  8. Cheiloscopy and blood groups: Aid in forensic identification.

    Science.gov (United States)

    Karim, Bushra; Gupta, Devanand

    2014-10-01

    Every person has certain features that make them radically distinct from others. One such feature is lip prints. Lip prints remain the same throughout life and are uninfluenced by injuries, diseases, or environmental changes. Different individuals have specific blood groups according to the various antigen-antibody reactions in their bloodstream. To determine the distribution of different patterns of lip prints among subjects having different ABO and Rh blood groups. To determine the correlation between respective characteristics of subjects. In this study, lip prints were obtained from 122 subjects (62 males and 60 females), and associated blood-group matching was performed to determine the predominant lip print type and to determine any correlation between lip print types and blood groups. Tsuchihashi's classification of type I (complete vertical grooves), type I' (incomplete vertical grooves), type II (forking grooves), type III (intersecting grooves), type IV (reticular grooves), and type V (indeterminate grooves) was used to compare with the ABO and Rh blood grouping systems. No correlation was found between lip prints and blood groups. No significant correlation exists between blood group and lip prints. Lip prints play a vital role in identification because they are unique.

  9. The use of next-generation sequencing for the determination of rare blood group genotypes

    DEFF Research Database (Denmark)

    Jakobsen, M. A.; Dellgren, C.; Sheppard, C.

    2018-01-01

    (SNPs) or single nucleotide variants (SNVs), are limited to detecting only a limited number of known antigens or alleles. NGS methods do not have this limitation. Methods: NGS using Ion torrent Personal Genome Machine (PGM) was performed with a customised Ampliseq panel targeting 15 different blood...

  10. Common breast cancer risk alleles and risk assessment

    DEFF Research Database (Denmark)

    Näslund-Koch, C; Nordestgaard, B G; Bojesen, S E

    2017-01-01

    general population were followed in Danish health registries for up to 21 years after blood sampling. After genotyping 72 breast cancer risk loci, each with 0-2 alleles, the sum for each individual was calculated. We used the simple allele sum instead of the conventional polygenic risk score......, as it is likely more sensitive in detecting associations with risks of other endpoints than breast cancer. RESULTS: Breast cancer incidence in the 19,010 women was increased across allele sum quintiles (log-rank trend test; p=1*10(-12)), but not incidence of other cancers (p=0.41). Age- and study-adjusted hazard...... ratio for the 5(th) vs. 1(st) allele sum quintile was 1.82(95% confidence interval;1.53-2.18). Corresponding hazard ratios per allele were 1.04(1.03-1.05) and 1.05(1.02-1.08) for breast cancer incidence and mortality, similar across risk factors. In 50-year old women, the starting age for screening...

  11. Distribution of ABO Blood Groups and Coronary Artery Calcium.

    Science.gov (United States)

    Wang, Yao; Zhou, Bing-Yang; Zhu, Cheng-Gang; Guo, Yuan-Lin; Wu, Na-Qiong; Qing, Ping; Gao, Ying; Liu, Geng; Dong, Qian; Li, Jian-Jun

    2017-06-01

    ABO blood groups have been confirmed to be associated with cardiovascular diseases such as coronary artery disease. However, whether ABO blood group is correlated with coronary artery calcium (CAC) is still unknown. 301 patients with coronary artery calcium score (CACS) assessed by computed tomography were consecutively enrolled and divided into two groups: with calcium group (CACS>0, n=104) and without calcium group (CACS=0, n=197). Distribution of ABO blood groups was evaluated between the two groups. The percentage of A blood type was significantly higher (p=0.008) and O blood type was significantly lower (p=0.037) in the calcium group. Univariate regression analysis showed that age, total cholesterol, low density lipoprotein cholesterol, high-sensitivity C-reactive protein, A blood type were positively correlated with CAC, and O blood type was inversely associated with CAC. Multivariate regression analysis showed that A blood type was independently associated with CAC (odds ratio: 2.217, 95% confidence interval: 1.260-3.900, p=0.006) even after further adjustment for variables that were clearly different between the two groups. Our data has suggested for the first time that A blood type was an independent risk marker for CAC. Copyright © 2016 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  12. Histo-blood group ABO antigen in oral potentially malignant lesions and squamous cell carcinoma--genotypic and phenotypic characterization

    DEFF Research Database (Denmark)

    Gao, Shan; Bennett, Erik Paul; Reibel, Jesper

    2004-01-01

    Loss of histo-blood group A/B antigens is frequent in oral cancer. It is unclear whether this alteration is due to loss of the chromosomal region encoding the genes. The aim was to investigate genotypic alterations in the ABO locus in oral potentially malignant lesions and carcinomas. Seventy...... to establish the ABO genotype. Total and patchy loss of A/B antigen expression was found in 24/32 carcinomas, 6/7 leukoplakias with severe dysplasia, 12/17 leukoplakias with mild and moderate dysplasia, and 6/17 leukoplakias without dysplasia. Specific A/B allele loss was found in 8/24 cases with carcinoma...

  13. Blood groups and acute aortic dissection type III.

    Science.gov (United States)

    Fatic, Nikola; Nikolic, Aleksandar; Vukmirovic, Mihailo; Radojevic, Nemanja; Zornic, Nenad; Banzic, Igor; Ilic, Nikola; Kostic, Dusan; Pajovic, Bogdan

    2017-04-01

    Acute aortic type III dissection is one of the most catastrophic events, with in-hospital mortality ranging between 10% and 12%. The majority of patients are treated medically, but complicated dissections, which represent 15% to 20% of cases, require surgical or thoracic endovascular aortic repair (TEVAR). For the best outcomes adequate blood transfusion support is required. Interest in the relationship between blood type and vascular disease has been established. The aim of our study is to evaluate distribution of blood groups among patients with acute aortic type III dissection and to identify any kind of relationship between blood type and patient's survival. From January 2005 to December 2014, 115 patients with acute aortic type III dissection were enrolled at the Clinic of Vascular and Endovascular Surgery in Belgrade, Serbia and retrospectively analyzed. Patients were separated into two groups. The examination group consisted of patients with a lethal outcome, and the control group consisted of patients who survived. The analysis of the blood groups and RhD typing between groups did not reveal a statistically significant difference ( p = 0.220). Our results indicated no difference between different blood groups and RhD typing with respect to in-hospital mortality of patients with acute aortic dissection type III.

  14. Frequencies and ethnic distribution of ABO and Rh(D) blood groups in Mauritania: results of first nationwide study.

    Science.gov (United States)

    Hamed, C T; Bollahi, M A; Abdelhamid, I; Med Mahmoud, M A; Ba, B; Ghaber, S; Habti, N; Houmeida, A

    2012-04-01

    There is no data available on the ABO/Rh(D) frequencies in the Mauritanian population. We retrospectively analysed records of a 5-year database that contained ABO/Rh phenotype and ethnic origin of 10 116 volunteers giving blood at the national blood transfusion centre to derive the frequencies of ABO/Rh(D) groups in the Mauritanian population. The two race categories in the country and their sub-ethnic groups: the Moors (whites and black) and the black Africans (Pulhars, Soninkes and Wolof) were included in this study. Globally, group O had the highest frequency (49.10%) followed by A (28.28%), B (18.56%) and AB (4.05%). This order more common in North African populations was found in four of the five ethnic groups composing our population. Allele frequencies were, respectively, 70.20%, 17.74% and 12.04% giving the same order of O > A > B. We observed no significant variation in these frequencies between the different ethnic groups. Rhesus study showed that with a percentage of 94.23% Rh(D) positive is by far the most prevalent, while Rh(D) negative is present only in 5.77% of the total population. This frequency distribution supports the mixed-race composition of the Mauritanian population. © 2011 Blackwell Publishing Ltd.

  15. Frequency of ABO, subgroup ABO and Rh(D) blood groups in major sudanese ethnic groups

    International Nuclear Information System (INIS)

    Hassan, F.M.

    2010-01-01

    Background: There are differences in the distribution of ABO, sub group A BO and Rh(D) blood groups in different populations of the world. Relatively little information is available about blood group distributions in Sudanese population. To see the frequency of ABO, subgroup ABO and Rh(D) blood groups in major Sudanese ethnic groups(Danagla Shaygia and Gaaleen). Blood testing for ABO, subgroup ABO and Rh(D) typing was done over six months, in 300 unrelated individuals, from both genders. Blood samples were collected from students of the college of medical laboratory science - Sudan University of Science and Technology using finger prick method and following routine slide method. Blood group 'O' was the most predominant ( 52.7%) in both Rh positive and negative subjects followed by blood group A, B and AB. Majority (98.0%)o f the subjects were Rh(D) positive and only 2% were Rh negative. The predominant subgroup of ABO was A2 (14.1% ). The frequency of ABO blood groups in both Rh positive and negative subjects among the major Sudanese ethnic group was similar to that reported from neighbouring regions. (author)

  16. Blood-group-Ii-active gangliosides of human erythrocyte membranes

    International Nuclear Information System (INIS)

    Feizi, T.; Childs, R.A.; Hakomori, S.-I.; Powell, M.E.

    1978-01-01

    More than ten new types of gangliosides, in addition to haematoside and sialosylparagloboside, were isolated from human erythrocyte membranes. These were separated by successive chromatographies on DAEA-Sephadex, on porous silica-gel columns and on thin-layer silica gel as acetylated compounds. Highly potent blood-group-Ii and moderate blood-group-H activities were demonstrated in some of the ganglioside fractions. The gangliosides incorporated into chlolesterol/phosphatidylcholine liposomes stoicheiometrically inhibited binding of anti-(blood-group-I and i) antibodies to a radioiodinated blood-group-Ii-active glycoprotein. The fraction with the highest blood-group-I activity, I(g) fraction, behaved like sialosyl-deca- to dodeca-glycosylceramides on t.l.c. Certain blood-group-I and most of the i-determinants were in partially or completely cryptic form and could be unmasked by sialidase treatment. Thus the I and i antigens, which are known to occur on internal structures of blood-group-ABH-active glycoproteins in secretions, also occur in the interior of the carbohydrate chains of erythrocyte gangliosides. (author)

  17. Association of ABO and Rh blood groups with breast cancer.

    Science.gov (United States)

    Meo, Sultan Ayoub; Suraya, Faryal; Jamil, Badar; Rouq, Fwziah Al; Meo, Anusha Sultan; Sattar, Kamran; Ansari, Mohammad Javed; Alasiri, Saleh A

    2017-11-01

    The aim of this study was to determine the association of "ABO" and "Rhesus" blood groups with incidence of breast cancer. In this study, we identified 70 research documents from data based search engines including "PubMed", "ISI-Web of Knowledge", "Embase" and "Google Scholar". The research papers were selected by using the primary key-terms including "ABO blood type", "Rhesus" blood type and "breast cancer". The research documents in which "ABO" and "Rhesus" blood types and breast cancer was debated were included. After screening, we reviewed 32 papers and finally we selected 25 research papers which met the inclusion criteria and remaining documents were excluded. Blood group "A" has high incidence of breast cancer (45.88%), blood group "O" has (31.69%); "B" (16.16%) and blood group "AB" has (6.27%) incidence of breast cancer. Blood group "A" has highest and blood group "AB" has least association with breast cancer. Furthermore, "Rhesus +ve" blood group has high incidence of breast cancer (88.31%) and "Rhesus -ve" blood group has least association with breast cancer (11.68%). Blood group "A" and "Rhesus +ve" have high risk of breast cancer, while blood type "AB" and "Rhesus -ve" are at low peril of breast cancer. Physicians should carefully monitor the females with blood group "A" and "Rh +ve" as these females are more prone to develop breast cancer. To reduce breast cancer incidence and its burden, preventive and screening programs for breast cancer especially in young women are highly recommended.

  18. ABO, rhesus blood groups and transfusion-transmitted infections ...

    African Journals Online (AJOL)

    Background: Few studies focused on the study of blood groups in Gabon. This study aimed to determine the phenotypic frequency of ABO and Rhesus antigens in blood donors of Libreville and to assess the association between ABO blood groups and transfusion-transmitted infections. Materials and Methods: The study of ...

  19. Qualitative analysis fingertip patterns in ABO blood group

    OpenAIRE

    S. V. KShirsagar

    2013-01-01

    The inheritance of the dermatoglyphic patterns is polygenic. The genetic basis of the blood group is well established. The correlation between the dermatoglyphic patterns and the ABO blood group is studied by some workers in different populations. In the present study, the correlation between dermatoglyphics and ABO blood group is studied in the Marathwada Region of Maharashtra. The qualitative data included fingertip patterns and three indices. It was observed that, the Arch pattern is more ...

  20. Helicobacter pylori infection according to ABO blood group among blood donors in Kosovo

    OpenAIRE

    Bukurije Zhubi; Zana Baruti-Gafurri; Ymer Mekaj; Mimoza Zhubi; Idriz Merovci; Iliriane Bunjaku; Valdete Topciu; Emine Devoli-Disha

    2011-01-01

    Introduction: Numerous studies have reported a high prevalence of Helicobacter pylori infection among healthy and non-healthy persons in different places. The Aim of the study is to investigate the seroprevalence of H. pylori infection among Kosovo’s Blood donor associated with ABO/Rhesus blood group.Methods: 671 blood donors are tested for H. pylori antibodies and results are classifi ed by way of donation, age, gender, blood groups and education level. Serum antibodies are analyzed by Enzym...

  1. Delta check for blood groups: A step ahead in blood safety

    Directory of Open Access Journals (Sweden)

    Raj Nath Makroo

    2017-01-01

    Conclusion: Delta checks proved to be an effective tool for detecting blood group errors and prevention of accidental mismatched blood transfusions. Preanalytical errors in patient identification or sample labeling were the most frequent.

  2. rights reserved Relationship between ABO Blood Groups and Lipid

    African Journals Online (AJOL)

    ADOWIE PERE

    Key Words: Lipoproteins, Blood groups, cardiovascular diseases, triglycerides. After the discovery of ABO blood groups. (Lansteiner, 1900), several studies have reported that the occurence of some diseases can be correlated with blood group types e.g. carcinoma of stomach (Aird et al., 1953), cardiometabolic diseases ...

  3. Assessing ABO/Rh Blood Group Frequency and Association with Asymptomatic Malaria among Blood Donors Attending Arba Minch Blood Bank, South Ethiopia

    Directory of Open Access Journals (Sweden)

    Getaneh Alemu

    2016-01-01

    Full Text Available Background. Determination of the various ABO/Rh blood group distributions and their association with malaria infection has paramount importance in the context of transfusion medicine and malaria control. Methods. Facility based cross-sectional study was conducted from February to June, 2015, to assess ABO/Rh blood groups distribution and their association with asymptomatic malaria. A structured questionnaire was used to collect data. Blood grouping was done using monoclonal antibodies. Thin and thick blood films were examined for Plasmodium parasites. Data were analyzed using SPSS version 20.0. Results. A total of 416 blood donors participated with median age of 22±0.29 (median ± standard error of the mean. Distribution of ABO phenotypes, in decreasing order, was O (175, 42.1%, A (136, 32.7%, B (87, 20.9%, and AB (18, 4.3%. Most of them were Rh+ (386, 92.8%. The overall malaria prevalence was 4.1% (17/416. ABO blood group is significantly associated with malaria infection (P=0.022. High rate of parasitemia was seen in blood group O donors (6.899, P=0.003 compared to those with other ABO blood groups. Conclusion. Blood groups O and AB phenotypes are the most and the least ABO blood groups, respectively. There is significant association between ABO blood group and asymptomatic malaria parasitemia.

  4. HLA Dr beta 1 alleles in Pakistani patients with rheumatoid arthritis

    International Nuclear Information System (INIS)

    Naqi, N.; Ahmed, T.A.; Bashir, M.M.

    2011-01-01

    Objective: To determine frequencies of HLA DR beta 1 alleles in rheumatoid arthritis in Pakistani patients. Study Design: Cross sectional / analytical study. Place and Duration of Study: Department of Immunology, Armed Forces Institute of Pathology, Rawalpindi in collaboration with Rheumatology departments of Military Hospital, Rawalpindi and Fauji Foundation Hospital, Rawalpindi, from January 2009 to January 2010. Methodology: HLA DR beta 1 genotyping of one hundred Pakistani patients, diagnosed as having RA as per American College of Rheumatology revised criteria 1987, was done. HLA DR beta 1 genotyping was carried out at allele group level (DR beta 1*01-DR beta 1*16) by sequence specific primers in RA patients. Comparison of HLA DR beta 1 allele frequencies between patients and control groups was made using Pearson's chi-square test to find possible association of HLA DR?1 alleles with RA in Pakistani rheumatoid patients. Results: HLA DR beta 1*04 was expressed with significantly increased frequency in patients with rheumatoid arthritis (p <0.05). HLA DR?1*11 was expressed statistically significantly more in control group as compared to rheumatoid patients indicating a possible protective effect. There was no statistically significant difference observed in frequencies of HLA DR beta 1 allele *01, DR beta 1 allele *03, DR beta 1 allele *07, DR beta 1 allele *08, DR beta 1 allele *09, DR beta 1 allele *10, DR beta 1 allele *12, DR beta 1 allele *13, DR beta 1 allele *14, DR?1 allele *15 and DR beta 1 allele *16 between patients and control groups. Conclusion: The identification of susceptible HLA DR beta 1 alleles in Pakistani RA patients may help physicians to make early decisions regarding initiation of early intensive therapy with disease modifying anti rheumatic medicines and biological agents decreasing disability in RA patients. (author)

  5. Next-generation sequencing for antenatal prediction of KEL1 blood group status

    DEFF Research Database (Denmark)

    Rieneck, Klaus; Clausen, Frederik Banch; Dziegiel, Morten Hanefeld

    2015-01-01

    The KEL1 antigen can give rise to immunization of KEL2 mothers. Maternal antibodies can be transferred to the fetus and destroy fetal red blood cells and their stem cell precursors and give rise to serious fetal disease. It is important to be able to predict the fetal KEL status in order...... to intervene in those pregnancies where the fetus is at risk, and to ascertain when the fetus is not at risk. Technically it can be demanding to predict KEL1 status from a maternal blood sample. The KEL1 allele is based on a single SNP present in about 1–10 % of cell-free maternal DNA after gestation week 10...

  6. Paper-based device for rapid typing of secondary human blood groups.

    Science.gov (United States)

    Li, Miaosi; Then, Whui Lyn; Li, Lizi; Shen, Wei

    2014-01-01

    We report the use of bioactive paper for typing of secondary human blood groups. Our recent work on using bioactive paper for human blood typing has led to the discovery of a new method for identifying haemagglutination of red blood cells. The primary human blood groups, i.e., ABO and RhD groups, have been successfully typed with this method. Clinically, however, many secondary blood groups can also cause fatal blood transfusion accidents, despite the fact that the haemagglutination reactions of secondary blood groups are generally weaker than those of the primary blood groups. We describe the design of a user-friendly sensor for rapid typing of secondary blood groups using bioactive paper. We also present mechanistic insights into interactions between secondary blood group antibodies and red blood cells obtained using confocal microscopy. Haemagglutination patterns under different conditions are revealed for optimization of the assay conditions.

  7. Helicobacter pylori infection according to ABO blood group among blood donors in Kosovo

    Directory of Open Access Journals (Sweden)

    Bukurije Zhubi

    2011-09-01

    Full Text Available Introduction: Numerous studies have reported a high prevalence of Helicobacter pylori infection among healthy and non-healthy persons in different places. The Aim of the study is to investigate the seroprevalence of H. pylori infection among Kosovo’s Blood donor associated with ABO/Rhesus blood group.Methods: 671 blood donors are tested for H. pylori antibodies and results are classifi ed by way of donation, age, gender, blood groups and education level. Serum antibodies are analyzed by Enzyme Linked Fluorescent Assay test for H. pylori IgG with Biomerieux HPY-VIDAS.Results: The frequency of IgG antibody for H. pylori among healthy blood donors is 56.9%, there is not found any difference between voluntary and non-voluntary blood donors (57.4% respectively 56.3%(OR=1.05; 95% CI 0.76 to 1.43; p=0.8. H pylori IgG antibodies positive are detected in 57.0 % ( 126 of 221 of women, compared with 56.9 % ( 256 of 450 of men(OR=0.99; 95% CI 0.72 to 1.38; p=0.96. Serpositive donors are older than seronegative ones (31.9 years, respectively 29.5 years, p=0.02. Mean value of IgG antibody of H. pylori is 3.61 with no significant difference between males and females (3.72 respectively 3.44; p=0.2. The seroprevalence of H. pylori infection is similar among blood groups: O (57.4%, A (56.2%, B (59.6%, AB (51.4%, RhD positive (56.7% and RhD negative (58.3%.Conclusions: The seropositivity of H. pylori is moderately higher in the non voluntary and familiar blood donors among the total Kosovo blood donors. There is not found a significant relationship between infection with H. pylori and ABO/Rhesus blood group among blood donors.

  8. 7 PREVALENCE OF Rh AND ABO BLOOD GROUPS IN HIV ...

    African Journals Online (AJOL)

    Bioline

    Summary: HIV status and blood groups determination (Rhesus and ABO groups) in 3691 pregnant ... quick test kits and tested for blood group types with anti-sera A,B,AB, and D. Overall, the prevalence of blood group .... Theory,Techniques,.

  9. Glioblastoma and ABO blood groups: further evidence of an association between the distribution of blood group antigens and brain tumours.

    Science.gov (United States)

    Allouh, Mohammed Z; Al Barbarawi, Mohammed M; Hiasat, Mohammad Y; Al-Qaralleh, Mohammed A; Ababneh, Emad I

    2017-10-01

    Glioblastoma is a highly malignant brain tumour that usually leads to death. Several studies have reported a link between the distribution of ABO blood group antigens and a risk of developing specific types of cancer, although no consensus has been reached. This study aims to investigate the relationship between the distribution of ABO blood group antigens and the incidence of glioblastoma. The study cohort consisted of 115 glioblastoma patients who were diagnosed at King Abdullah University Hospital, Jordan, between 2004 and 2015. Three different patient populations made up three control groups and these were selected from among patients at the same institution between 2014 and 2015 as follows: 3,847 healthy blood donors, 654 accidental trauma patients admitted to the Departments of Neurosurgery and Orthopaedics, and 230 age- and sex-matched control subjects recruited blindly from the Departments of Paediatrics and Internal Medicine. There was a significant association between the distribution of ABO blood group antigens and the incidence of glioblastoma. Post hoc residual analysis revealed that individuals with group A had a higher than expected chance of developing glioblastoma, while individuals with group O had a lower than expected chance. Furthermore, individuals with group A were found to be at a 1.62- to 2.28-fold increased risk of developing glioblastoma compared to individuals with group O. In the present study, we demonstrate that, in Jordan, individuals with group A have an increased risk of developing glioblastoma, while individuals with group O have a reduced risk. These findings suggest that the distribution of ABO blood group antigens is associated with a risk of brain tumours and may play an important role in their development. However, further clinical and experimental investigations are required to confirm this association.

  10. Blood group genotyping: from patient to high-throughput donor screening

    NARCIS (Netherlands)

    Veldhuisen, B.; van der Schoot, C. E.; de Haas, M.

    2009-01-01

    Blood group antigens, present on the cell membrane of red blood cells and platelets, can be defined either serologically or predicted based on the genotypes of genes encoding for blood group antigens. At present, the molecular basis of many antigens of the 30 blood group systems and 17 human

  11. ABO-Rh blood groups distribution in cardiac syndrome X patients.

    Science.gov (United States)

    Kheradmand, Fatemeh; Rasmi, Yousef; Nemati, Mohaddeseh; Mohammadzad, Mir Hossein Seyed

    2012-07-01

    Data on frequency distribution of ABO-Rh blood groups in cardiac syndrome X (CSX) patients are not available. We aimed to investigate the distribution of ABO-Rh blood groups in these patients. A total of 247 CSX patients' records were reviewed in a cross-sectional study from 2006 to 2010. One hundred forty six patients (59.1%) were female, and the mean patient age was 52 ± 11 years. The frequency of ABO-Rh blood groups was compared to the frequency of these blood groups in the West-Azerbaijan province, Iran; general population. Blood groups distribution among CSX patients showed phenotypes A, B, AB, O and Rh negative as 33.1%, 21.9%, 9.3%, 35.8%, and 7.9%, respectively. According to our results, there were no differences in ABO-Rh blood groups distribution between CSX patients and normal population. These data suggest that ABO-Rh blood groups might be unassociated with CSX.

  12. Lack of evidence from studies of soluble protein fragments that Knops blood group polymorphisms in complement receptor-type 1 are driven by malaria.

    Directory of Open Access Journals (Sweden)

    Patience B Tetteh-Quarcoo

    Full Text Available Complement receptor-type 1 (CR1, CD35 is the immune-adherence receptor, a complement regulator, and an erythroid receptor for Plasmodium falciparum during merozoite invasion and subsequent rosette formation involving parasitized and non-infected erythrocytes. The non-uniform geographical distribution of Knops blood group CR1 alleles Sl1/2 and McC(a/b may result from selective pressures exerted by differential exposure to infectious hazards. Here, four variant short recombinant versions of CR1 were produced and analyzed, focusing on complement control protein modules (CCPs 15-25 of its ectodomain. These eleven modules encompass a region (CCPs 15-17 key to rosetting, opsonin recognition and complement regulation, as well as the Knops blood group polymorphisms in CCPs 24-25. All four CR1 15-25 variants were monomeric and had similar axial ratios. Modules 21 and 22, despite their double-length inter-modular linker, did not lie side-by-side so as to stabilize a bent-back architecture that would facilitate cooperation between key functional modules and Knops blood group antigens. Indeed, the four CR1 15-25 variants had virtually indistinguishable affinities for immobilized complement fragments C3b (K(D = 0.8-1.1 µM and C4b (K(D = 5.0-5.3 µM. They were all equally good co-factors for factor I-catalysed cleavage of C3b and C4b, and they bound equally within a narrow affinity range, to immobilized C1q. No differences between the variants were observed in assays for inhibition of erythrocyte invasion by P. falciparum or for rosette disruption. Neither differences in complement-regulatory functionality, nor interactions with P. falciparum proteins tested here, appear to have driven the non-uniform geographic distribution of these alleles.

  13. Transfusion reaction in a case with the rare Bombay blood group

    Directory of Open Access Journals (Sweden)

    Hayedeh Javadzadeh Shahshahani

    2013-01-01

    Full Text Available Bombay phenotype is extremely rare in Caucasian with an incidence of 1 in 250,000. When individuals with the Bombay phenotype need blood transfusion, they can receive only autologous blood or blood from another Bombay blood group. Transfusing blood group O red cells to them can cause a fatal hemolytic transfusion reaction. In this study, we report a case with the rare Bombay blood group that was misdiagnosed as the O blood group and developed a hemolytic transfusion reaction. This highlights the importance of both forward and reverse typing in ABO blood grouping and standard cross-matching and performing standard pretransfusion laboratory tests in hospital blood banks.

  14. ABO blood groups, Rhesus factor, and Behçet's disease.

    Science.gov (United States)

    Ozyurt, Kemal; Oztürk, Perihan; Gül, Mustafa; Benderli, Yasemin Cihan; Cölgeçen, Emine; Inci, Rahime

    2013-09-01

    Recently, numerous studies have been carried out to explain the genetics and immunopathogenesis of Behçet's disease (BD). There is still insufficient understanding of its etiopathogenesis, but substantial genetic and immune system abnormalities have been suggested. Several studies have shown remarkable associations of ABO blood groups with various diseases. This study investigated the relationship between ABO and Rhesus (D) blood groups and Behçet's disease in Turkish patients. Clinical data on gender, ABO, and Rhesus blood type of patients with BD were collected at the Kayseri Education and Research Hospital from 2005 to 2012. A total of 115 patients with BD were assessed for their association with ABO or Rhesus (D) blood groups and compared with the distribution of the blood groups of 25,701 healthy donors admitted to the Kayseri Education and Research Hospital Blood Center in 2010 and 2011. The distribution of ABO and Rhesus blood groups in patients with BD was similar to the healthy donors. No relationship was found between ABO or Rhesus blood groups and BD at our hospital. Further studies with a larger series and in different centers may be valuable for identifying the association between ABO or Rhesus (D) blood groups and BD.

  15. Blood group genotyping for Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Co(a)/Co(b), and Lu(a)/Lu(b) with microarray beads.

    Science.gov (United States)

    Karpasitou, Katerina; Drago, Francesca; Crespiatico, Loretta; Paccapelo, Cinzia; Truglio, Francesca; Frison, Sara; Scalamogna, Mario; Poli, Francesca

    2008-03-01

    Traditionally, blood group typing has been performed with serologic techniques, the classical method being the hemagglutination test. Serotyping, however, may present important limitations such as scarce availability of rare antisera, typing of recently transfused patients, and those with a positive direct antiglobulin test. Consequently, serologic tests are being complemented with molecular methods. The aim of this study was to develop a low-cost, high-throughput method for large-scale genotyping of red blood cells (RBCs). Single-nucleotide polymorphisms associated with some clinically important blood group antigens, as well as with certain rare blood antigens, were evaluated: Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Co(a)/Co(b), and Lu(a)/Lu(b). Polymerase chain reaction (PCR)-amplified targets were detected by direct hybridization to microspheres coupled to allele-specific oligonucleotides. Cutoff values for each genotype were established with phenotyped and/or genotyped samples. The method was validated with a blind panel of 92 blood donor samples. The results were fully concordant with those provided by hemagglutination assays and/or sequence-specific primer (SSP)-PCR. The method was subsequently evaluated with approximately 800 blood donor and patient samples. This study presents a flexible, quick, and economical method for complete genotyping of large donor cohorts for RBC alleles.

  16. Allele frequencies of human platelet antigens in Banjar, Bugis, Champa, Jawa and Kelantan Malays in Peninsular Malaysia.

    Science.gov (United States)

    Wan Syafawati, W U; Norhalifah, H K; Zefarina, Z; Zafarina, Z; Panneerchelvam, S; Norazmi, M N; Chambers, G K; Edinur, H A

    2015-10-01

    The major aims of this study are to characterise and compile allelic data of human platelet antigen (HPA)-1 to -6 and -15 systems in five Malay sub-ethnic groups in Peninsular Malaysia. HPAs are polymorphic glycoproteins expressed on the surface of platelet membranes and are genetically differentiated across ethnogeographically unrelated populations. Blood samples were obtained with informed consent from 192 volunteers: Banjar (n = 30), Bugis (n = 37), Champa (n = 51), Jawa (n = 39) and Kelantan (n = 35). Genotyping was done using polymerase chain reaction-sequence specific primer method. In general, frequencies of HPAs in the Malay sub-ethnic groups are more similar to those in Asian populations compared with other more distinct populations such as Indians, Australian Aborigines and Europeans. This study provides the first HPA datasets for the selected Malay sub-ethnic groups. Subsequent analyses including previously reported HPA data of Malays, Chinese and Indians revealed details of the genetic relationships and ancestry of various sub-populations in Peninsular Malaysia. Furthermore, the comprehensive HPA allele frequency information from Peninsular Malaysia provided in this report has potential applications for future study of diseases, estimating risks associated with HPA alloimmunization and for developing an efficient HPA-typed donor recruitment strategy. © 2015 British Blood Transfusion Society.

  17. Blood group ascription as a genetic marker of hepatic hemangioma

    International Nuclear Information System (INIS)

    Polysalov, V.N.; Tarazov, P.G.

    1992-01-01

    There is no single point of view on pathogenesis of hemangiomas. The authors investigated the ABO blood types in 52 patients with hepatic hemangiomas (Group 1) and 1000 control patients (Group 2). The character of changes in the liver was established by means of reontgenoradionuclide investigation methods. The study demonstrated 61.5 % of the A blood type among the patients of Group 1. This was significantly higher than in the Group 2 and representative groups from literature (P < 0.001). Taking into account that the cells of both blood and blood vessels are formed in embryos through the mesenchyma and the heritability of blood group antigens, it is supposed that the results obtained support the genetic determination theory of pathogenesis of hepatic hemangioamas

  18. Red blood cell antigen genotype analysis for 9087 Asian, Asian American, and Native American blood donors.

    Science.gov (United States)

    Delaney, Meghan; Harris, Samantha; Haile, Askale; Johnsen, Jill; Teramura, Gayle; Nelson, Karen

    2015-10-01

    There has yet to be a comprehensive analysis of blood group antigen prevalence in Asian Americans and Native Americans. There may be ethnic differences in blood group frequencies that would result in clinically important mismatches through transfusion. Blood donors who self-identified as Asian or Native American were tested using a single-nucleotide polymorphism (SNP) DNA array (HEA BeadChip kit, Bioarray Solutions Ltd) that predicts expression of 38 human erythrocyte antigens (HEAs) and by serology for ABO, D, C, M, N, Jk(a) , and Jk(b) . The prevalence of blood group antigens was compared to published European prevalence. Discrepancies between SNP-predicted and serology-detected antigens were tallied. A total of 9087 blood donors were tested from nine Asian and Native American heritages. The predicted prevalence of selected antigens in the RHCE, JK, FY, MNS, LU, CO, and DO blood group systems were variable between Asian populations, but overall not significantly different than Europeans. Compared to European frequencies, Kell blood group allele frequencies were significantly different in the Chinese, Native American, Hawaiian/Pacific Islander, South Asian, and Southeast Asian heritage blood donors; Diego antigens Di(a) and Di(b) were different in donors of Native American and South Asian ancestries (p Asian and Native Americans donors. Several ethnic groups exhibited differences in HEA frequencies compared to Europeans. Genotype-serotype discrepancies were detected in all systems studied. © 2015 AABB.

  19. Blood group genotyping: from patient to high-throughput donor screening.

    Science.gov (United States)

    Veldhuisen, B; van der Schoot, C E; de Haas, M

    2009-10-01

    Blood group antigens, present on the cell membrane of red blood cells and platelets, can be defined either serologically or predicted based on the genotypes of genes encoding for blood group antigens. At present, the molecular basis of many antigens of the 30 blood group systems and 17 human platelet antigens is known. In many laboratories, blood group genotyping assays are routinely used for diagnostics in cases where patient red cells cannot be used for serological typing due to the presence of auto-antibodies or after recent transfusions. In addition, DNA genotyping is used to support (un)-expected serological findings. Fetal genotyping is routinely performed when there is a risk of alloimmune-mediated red cell or platelet destruction. In case of patient blood group antigen typing, it is important that a genotyping result is quickly available to support the selection of donor blood, and high-throughput of the genotyping method is not a prerequisite. In addition, genotyping of blood donors will be extremely useful to obtain donor blood with rare phenotypes, for example lacking a high-frequency antigen, and to obtain a fully typed donor database to be used for a better matching between recipient and donor to prevent adverse transfusion reactions. Serological typing of large cohorts of donors is a labour-intensive and expensive exercise and hampered by the lack of sufficient amounts of approved typing reagents for all blood group systems of interest. Currently, high-throughput genotyping based on DNA micro-arrays is a very feasible method to obtain a large pool of well-typed blood donors. Several systems for high-throughput blood group genotyping are developed and will be discussed in this review.

  20. ABO blood grouping in Egyptian children with rotavirus gastroenteritis

    Directory of Open Access Journals (Sweden)

    Hala Gouda Elnady

    2017-09-01

    Full Text Available Introduction : Rotavirus gastroenteritis is an important public health problem all over the world, causing a notable economic burden in both developing and developed countries. Aim: To explore the relationship between blood group typing, rotavirus gastroenteritis, and its severity in Egyptian children. Material and methods: A cross sectional case control study was conducted on 231 cases of acute gastroenteritis attending the outpatient clinic of Al-Zahraa University Hospital. Full history taking, clinical examination, and clinical data collection were done. Blood samples were collected for an ABO grouping. Stool samples were tested for viral gastroenteritis agents. Results : Rota positive cases of GE were significantly more prevalent among cases with blood group A (p < 0.05 and significantly less among cases with blood group B (p < 0.05. The rate of hospitalisation was highly significantly greater among cases with group A (p < 0.005, and significantly lower among cases with group AB and O (p < 0.05. As regards the degree of dehydration, moderate and severe cases were highly significant in groups A and O (p < 0.005. Rota-positive gastroenteritis showed significant positive correlations with indicators of severity such as hospitalisation, degree of dehydration, and duration of fever (p < 0.005. Conclusions : Blood group A is highly associated with paediatric rotavirus gastroenteritis. This could highlight an important risk factor, which could play a significant role for the pathogenesis of rotavirus gastroenteritis and severity as well. Furthermore, more intervention care could be needed for blood group A paediatric patients, if gastroenteritis especially rotavirus affect this group to avoid comorbidities.

  1. Shared epitope alleles remain a risk factor for anti-citrullinated proteins antibody (ACPA--positive rheumatoid arthritis in three Asian ethnic groups.

    Directory of Open Access Journals (Sweden)

    Too Chun-Lai

    Full Text Available BACKGROUND: To investigate the associations between HLA-DRB1 shared epitope (SE alleles and rheumatoid arthritis in subsets of rheumatoid arthritis defined by autoantibodies in three Asian populations from Malaysia. METHODS: 1,079 rheumatoid arthritis patients and 1,470 healthy controls were included in the study. Levels of antibodies to citrullinated proteins (ACPA and rheumatoid factors were assessed and the PCR-SSO method was used for HLA-DRB1 genotyping. RESULTS: The proportion of ACPA positivity among Malay, Chinese and Indian rheumatoid arthritis patients were 62.9%, 65.2% and 68.6%, respectively. An increased frequency of SE alleles was observed in ACPA-positive rheumatoid arthritis among the three Asian ethnic groups. HLA-DRB1*10 was highly associated with rheumatoid arthritis susceptibility in these Asian populations. HLA-DRB1*0405 was significantly associated with susceptibility to rheumatoid arthritis in Malays and Chinese, but not in Indians. HLA-DRB1*01 did not show any independent effect as a risk factor for rheumatoid arthritis in this study and HLA-DRB1*1202 was protective in Malays and Chinese. There was no association between SE alleles and ACPA- negative rheumatoid arthritis in any of the three Asian ethnic groups. CONCLUSION: The HLA-DRB1 SE alleles increase the risk of ACPA-positive rheumatoid arthritis in all three Asian populations from Malaysia.

  2. 21 CFR 864.9175 - Automated blood grouping and antibody test system.

    Science.gov (United States)

    2010-04-01

    ...) Identification. An automated blood grouping and antibody test system is a device used to group erythrocytes (red blood cells) and to detect antibodies to blood group antigens. (b) Classification. Class II (performance... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Automated blood grouping and antibody test system...

  3. Correlation between 'H' blood group antigen and Plasmodium falciparum invasion.

    Science.gov (United States)

    Pathak, Vrushali; Colah, Roshan; Ghosh, Kanjaksha

    2016-06-01

    The ABO blood group system is the most important blood group system in clinical practice. The relationship between Plasmodium falciparum and ABO blood groups has been studied for many years. This study was undertaken to investigate the abilities of different blood group erythrocytes to support in vitro growth of P. falciparum parasites. P. falciparum parasites of four different strains (3D7, 7G8, Dd2 and RKL9) were co-cultured with erythrocytes of blood group 'A', 'B', 'O' (n = 10 for each) and 'O(h)' (Bombay group) (n = 7) for 5 days. Statistically significant differences were observed on the fourth day among the mean percent parasitemias of 'O', non-'O' ('A' and 'B') and 'O(h)' group cultures. The parasitemias of four strains ranged from 12.23 to 14.66, 11.68 to 13.24, 16.89 to 22.3, and 7.37 to 11.27 % in 'A', 'B', 'O' and Bombay group cultures, respectively. As the expression of H antigen decreased from 'O' blood group to 'A' and 'B' and then to Bombay blood group, parasite invasion (percent parasitemia) also decreased significantly (p Ulex europaeus seeds. Mean percent parasitemia of lectin-treated cultures on the fourth day was significantly lower (p < 0.05) than that of non-treated cultures and was found to be similar with the mean percent parasitemia demonstrated by the Bombay group erythrocyte cultures, thus further strengthening the hypothesis.

  4. Frequency of ABO/Rhesus Blood Groups in Patients with Diabetes Mellitus.

    Science.gov (United States)

    Oner, Can; Dogan, Burcu; Telatar, Berrin; Celik Yagan, Canan Fidan; Oguz, Aytekin

    2016-01-01

    The correlation between ABO/Rh blood groups and diabetes mellitus is still controversial. The aim of this study was to determine the relationship between ABO/Rhesus blood groups and diabetes in Turkish population. This cross-sectional study was conducted in Istanbul Medeniyet University Göztepe Education and Training Hospital's Diabetes Units. The study group was composed of 421 patients with type-1 diabetes, 484 patients with type-2 diabetes and 432 controls. Blood samples were collected and tested for ABO/Rhesus blood groups. Data was analyzed by SPSS version 17.0. A significant association was found between blood groups and diabetes mellitus. The frequency of AB blood group was significantly higher in type-1 diabetics; and A blood group was significantly higher in type-2 diabetics. Furthermore, Rh negativity were significantly more frequent in type-2 diabetics.

  5. BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data.

    Science.gov (United States)

    Giollo, Manuel; Minervini, Giovanni; Scalzotto, Marta; Leonardi, Emanuela; Ferrari, Carlo; Tosatto, Silvio C E

    2015-01-01

    Over the last decade, we have witnessed an incredible growth in the amount of available genotype data due to high throughput sequencing (HTS) techniques. This information may be used to predict phenotypes of medical relevance, and pave the way towards personalized medicine. Blood phenotypes (e.g. ABO and Rh) are a purely genetic trait that has been extensively studied for decades, with currently over thirty known blood groups. Given the public availability of blood group data, it is of interest to predict these phenotypes from HTS data which may translate into more accurate blood typing in clinical practice. Here we propose BOOGIE, a fast predictor for the inference of blood groups from single nucleotide variant (SNV) databases. We focus on the prediction of thirty blood groups ranging from the well known ABO and Rh, to the less studied Junior or Diego. BOOGIE correctly predicted the blood group with 94% accuracy for the Personal Genome Project whole genome profiles where good quality SNV annotation was available. Additionally, our tool produces a high quality haplotype phase, which is of interest in the context of ethnicity-specific polymorphisms or traits. The versatility and simplicity of the analysis make it easily interpretable and allow easy extension of the protocol towards other phenotypes. BOOGIE can be downloaded from URL http://protein.bio.unipd.it/download/.

  6. Distribution of abo, rhesus blood groups and haemoglobin ...

    African Journals Online (AJOL)

    Summary: The distribution of ABO, Rhesus blood groups and haemoglobin electrophoresis among 200 undergraduate students of Niger Delta University, Bayelsa State, Nigeria randomly selected were studied. Blood samples were collected by venepuncture from the antecubital vein. The blood sample were transferred into ...

  7. Blood groups and human groups: collecting and calibrating genetic data after World War Two.

    Science.gov (United States)

    Bangham, Jenny

    2014-09-01

    Arthur Mourant's The Distribution of the Human Blood Groups (1954) was an "indispensable" reference book on the "anthropology of blood groups" containing a vast collection of human genetic data. It was based on the results of blood-grouping tests carried out on half-a-million people and drew together studies on diverse populations around the world: from rural communities, to religious exiles, to volunteer transfusion donors. This paper pieces together sequential stages in the production of a small fraction of the blood-group data in Mourant's book, to examine how he and his colleagues made genetic data from people. Using sources from several collecting projects, I follow how blood was encountered, how it was inscribed, and how it was turned into a laboratory resource. I trace Mourant's analytical and representational strategies to make blood groups both credibly 'genetic' and understood as relevant to human ancestry, race and history. In this story, 'populations' were not simply given, but were produced through public health, colonial and post-colonial institutions, and by the labour and expertise of subjects, assistants and mediators. Genetic data were not self-evidently 'biological', but were shaped by existing historical and geographical identities, by political relationships, and by notions of kinship and belonging. Copyright © 2014 The Author. Published by Elsevier Ltd.. All rights reserved.

  8. Fingerprints as an Alternative Method to Determine ABO and Rh Blood Groups.

    Science.gov (United States)

    Chaudhary, Sonam; Deuja, Sajana; Alam, Munna; Karmacharya, Poonam; Mondal, Monami

    2017-01-01

    Blood grouping is conventionally done with invasive method by taking blood samples. The objective of this study is to determine blood group with uninvasive procedure by taking fingerprints of the participants and know the associations between their fingerprints and blood groups. Seven hundred participants of both genders with no any age limitation from Manipal Teaching Hospital and Manipal College of Medical Sciences were randomly selected. The blood grouping was done by cross reacting blood sample with the antibodies. The fingerprints were taken with the help of stamp pad imprinting the finger ridges over A4 size white papers. The loop, whorl and arch patterns were studied. O+ve blood group 224 (32%) was most prevalent among 700 participants. The loop pattern was highly distributed 3708 (53%) in all blood groups except in A-ve blood group with highest distribution of whorl 20 (40%). The mean comparisons of specific fingerprint in total and also in individual fingers with different ABO and ABO-Rh blood groups showed no any statistical association with P>0.05. However, the loop distribution in individual finger was highest in right middle finger (M) of B-ve blood group 5 (10%). The whorl distribution in individual finger was highest in right index (I), left thumb (T) and left ring (R) fingers of AB+ve blood group 20 (5.5% each). Similarly, the arch distribution was highest in right index fingers of A-ve blood group 3 (6%). The mean comparison of different fingerprints with ABO and Rh blood groups showed no significant statistical association concluding fingerprints cannot be used for blood grouping.

  9. Prenatal typing of Rh and Kell blood group system antigens: the edge of a watershed.

    Science.gov (United States)

    van der Schoot, C Ellen; Tax, G H Martine; Rijnders, Robbert J P; de Haas, Masja; Christiaens, Godelieve C M L

    2003-01-01

    Knowledge of the molecular basis of the blood group systems has enabled the development of assays for blood group genotyping. At this time, polymerase chain reaction (PCR)-based assays validated on fetal material obtained by invasive means (chorionic villus sampling or amniocentesis) are available for all clinically relevant fetal blood groups, However, only Rh typing (D, C, c, E, and e) and K1 genotyping assays are discussed in this review. Importantly, one must remember that results of genotyping assays will not always be concordant with serological typing. Thus, the RhD genotyping assays have to be modified in response to increased understanding of the molecular biology of this blood group system. RhD typing assays should produce negative results when tested on the black RhD-negative RHD alleles, RHDpsi and r's. PCR-based assays can be used to determine paternal zygosity. For RhD zygosity testing, the real-time quantitative PCR approach and the direct detection of the hybrid Rhesus box, which is the result of the deletion of the RHD gene are available. Recently, methods for noninvasive prenatal genotyping have been investigated. The use of fetal cells circulating in the maternal circulation has been explored; however, the scarcity of circulating fetal cells has limited the use of this approach. More promising are the results obtained with RhD typing assays with cell-free fetal DNA, which is present in the maternal circulation in a concentration of 25 genomic equivalents per milliliter of maternal blood in early pregnancy increasing to 100 copies per milliliter in the third trimester, which is cleared from the circulation within a few hours of delivery. The positive predictive value of this approach is virtually 100%, but false-negative results are (infrequently) encountered. Therefore, this assay can at present only be used for screening of RhD-negative women to make the use of antenatal prophylaxis more targeted and hence more cost-effective. For the clinical

  10. ABO Blood Group and Risk of Thromboembolic and Arterial Disease

    DEFF Research Database (Denmark)

    Vasan, Senthil K; Rostgaard, Klaus; Majeed, Ammar

    2016-01-01

    BACKGROUND: ABO blood groups have been shown to be associated with increased risks of venous thromboembolic and arterial disease. However, the reported magnitude of this association is inconsistent and is based on evidence from small-scale studies. METHODS AND RESULTS: We used the SCANDAT2...... (Scandinavian Donations and Transfusions) database of blood donors linked with other nationwide health data registers to investigate the association between ABO blood groups and the incidence of first and recurrent venous thromboembolic and arterial events. Blood donors in Denmark and Sweden between 1987......-up. Compared with blood group O, non-O blood groups were associated with higher incidence of both venous and arterial thromboembolic events. The highest rate ratios were observed for pregnancy-related venous thromboembolism (incidence rate ratio, 2.22; 95% confidence interval, 1.77-2.79), deep vein thrombosis...

  11. Association of ABO and Rh blood groups with type 2 diabetes mellitus.

    Science.gov (United States)

    Meo, S A; Rouq, F A; Suraya, F; Zaidi, S Z

    2016-01-01

    The phenotypic "ABO" blood groups are inherited antigenic substances which are found on the surface of red blood cells in addition to other tissues. Certain hypothesis advocates that genetic predisposition like "ABO" blood group would be associated with occurrence of diseases including type 2 diabetes. This study aimed to investigate the potential association between "ABO" and "Rhesus" blood groups with type 2 diabetes. We identified 47 research documents in a data based search including ISI-Web of Science, EMBASE and PubMed. Literature was explored using the key terms including "ABO blood groups" "type 2 diabetes". Studies in which "ABO" blood types and diabetes mellitus were discussed included without restrictions of research documents, types, status and language of the publications. Finally, 15 publications which matched our criteria were included, and remaining studies were excluded. Blood group "B" was associated with high incidence of type 2 diabetes and blood group "O" has a minimum association with type 2 diabetes. Blood group "A" and "AB" were almost equally distributed in both diabetic and non-diabetic population. However, we were unable to find an association between "Rh+ve" and "Rh-ve" blood groups with type 2 diabetes. Subjects with blood group "B" are at high risk while individuals with blood group "O" are at low peril of evolving type 2 diabetes. It is suggested that subjects with blood group "B" should be closely monitored by physicians as these subjects have an increased risk of type 2 diabetes.

  12. Relation of ABO Blood Groups to the Plaque Characteristic of Coronary Atherosclerosis.

    Science.gov (United States)

    Huang, Xingtao; Zou, Yongpeng; Li, Lulu; Chen, Shuyuan; Hou, Jingbo; Yu, Bo

    2017-01-01

    The ABO blood types related to morphological characteristics of atherosclerosis plaque are not clear. We aimed to evaluate the relationship between ABO blood groups and the coronary plaque characteristic. We retrospectively identified the target lesions in 392 acute coronary syndrome patients who underwent optical coherence tomography examination before stenting. Subjects were divided into different groups according to different blood types. The fibrous cap thickness was significantly thicker in O type compared with non-O type (0.075 ± 0.033 mm versus 0.061 ± 0.024, p blood type groups even between O type and non-O type group ( p > 0.05). The plaques of O type blood group were exhibited more stably compared with non-O type blood group. Moreover, the non-O type blood group have more serious coronary artery stenosis than O type blood group.

  13. Association between Cheiloscopic Patterns and ABO Blood Groups among South Indian Population.

    Science.gov (United States)

    Khanapure, Sneha; Suhas, H G; Potdar, Shrudha; Sam, George; Sudeep, C B; Arjun, M R

    2017-07-01

    Human beings have few characteristics that are unique from others. Lip prints are one of such feature. They are not changed throughout the life and are not influenced by injuries, diseases, or environmental changes. According to the various antigen-antibody reactions in the bloodstream, different individuals have specific blood groups. To study the distribution of lip print patterns among individuals with different ABO and Rh blood groups and also to know the relation between their characters and blood groups. In the present study, lip prints were collected randomly from 85 individuals, and their blood group matching was performed. This is to identify the most common lip print type and to know any association between lip print types and blood groups. Tsuchihashi's classification of lip prints was used to compare with the ABO and Rh blood grouping systems. It was observed that in individuals with B+, A+, and O- blood groups, predominant pattern was Type IV and individuals having blood group O+ and AB+ common lip print pattern was Type II. This study showed strong association between lip print patterns and ABO blood groups as some blood groups were not included in statistical analysis; further studies including larger sample are essential to substantiate the results. Correlating lip print with blood group helps in identification of the suspects. Along with lip prints, another biological record that remains unchanged throughout the lifetime of a person is the blood group. Determining the blood group of a person from the samples obtained at the site of crime and also recovering lip prints from site can help identify a person.

  14. Frequency of different blood groups and its association with BMI and blood pressure among the female medical students of Faisalabad.

    Science.gov (United States)

    Jawed, Shireen; Zia, Sadaf; Tariq, Sundus

    2017-08-01

    To determine the frequency of different blood groups among female medical students and to find the association of blood groups and body mass index with blood pressure. This cross-sectional study was performed at the University Medical and Dental College, Faisalabad, Pakistan, from March to April 2016, and comprised female medical students. Participants were divided into groups on the basis of their ABO blood groups and on body mass index criteria. Blood groups were determined by simple conventional slide method. Blood pressure was estimated by manual auscultatory technique with a mercury sphygmomanometer. Data was analysed usingSPSS20. There were 145 students with an overall mean age of18.4±0.75 years (range: 17-23 years). Blood group B was the predominant group 65(44.8%). Besides, 130(89.6%) subjects were rhesus positive and 23(53%) subjects of blood group O were pre-hypertensive. Multiple regression analysis indicated significant positive association of blood group O with both systolic and diastolic blood pressure (p=0.002, 0.001). However, subsequent logistic regression showed significant association only with diastolic blood pressure (p=0.001). Relative risk of pre-hypertension for obese (p=0.001) was greater than non-obese subjects. Body mass index was significantly associated with both systolic and diastolic blood pressure (p=0.004, 0.042). Blood group B was the most common blood group. Blood group O was associated with diastolic pre-hypertension, while body mass index was associated with both systolic and diastolic pre-hypertension.

  15. ABO blood group frequency in Ischemic heart disease patients in Pakistani population.

    Science.gov (United States)

    Sharif, Saima; Anwar, Naureen; Farasat, Tasnim; Naz, Shagufta

    2014-05-01

    To determine if there is any significant association between ABO blood groups and ischemic heart disease (IHD). The study was performed at Punjab Institute of Cardiology (PIC), Lahore. Study duration was from January 2012 to September 2012. This study included 200 IHD patients and 230 control individuals. Self design questionnaire was used to collect information regarding risk factors. Standard agglutination test was performed to determine the blood groups. Data was analyzed on SPSS 16. The prevalence of blood groups in IHD group was 34% in blood group A, 29% in blood group B, 14% in blood group AB and 23% in blood group O. In control group the distribution of B, A, AB and O blood groups were 34.4%, 20.9%, 12.6%, 32.2% respectively. Rh+ve factor was prevalent in 90.5% among IHD group and 92.6% in control subjects. The prevalence of IHD was more in males (63.5%) as compared to females (36.5%). Mean age was 56.4±0.86 (yrs) and BMI was 26.4±0.33 (kg/m(2)). The prevalence of hypertension was 58.5%, diabetes was 53%, family history of cardiac disease was 45%, 35.5% of patients were doing exercise regularly, 58.5% used ghee, and 58% were smokers. C onclusion: Subjects with blood group A had significantly (pblood groups.

  16. Relative Susceptibilities of ABO Blood Groups to Plasmodium falciparum Malaria in Ghana.

    Science.gov (United States)

    Afoakwah, Richmond; Aubyn, Edmond; Prah, James; Nwaefuna, Ekene Kwabena; Boampong, Johnson N

    2016-01-01

    The clinical outcome of falciparum malaria in endemic areas is influenced by erythrocyte polymorphisms including the ABO blood groups. Studies have reported association of ABO blood group to resistance, susceptibility, and severity of P. falciparum malaria infection. Individuals with blood group "A" have been found to be highly susceptible to falciparum malaria whereas blood group "O" is said to confer protection against complicated cases. We analyzed samples from 293 young children less than six years old with malaria in the Korle-Bu Teaching Hospital in Accra, Ghana. It was observed that group O was present in about 16.1% of complicated cases weighed against 40.9% of uncomplicated controls. Individuals with complicated malaria were about twice likely to be of blood groups A and B compared to group O (A versus O, OR = 1.90, 95% CI = 1.59-2.26, P Blood group O participants with complicated diseases had low parasitaemia compared to the other blood groups (P blood group O individuals a survival advantage over the other groups in complicated malaria as suggested. Participants with complicated falciparum malaria were generally anaemic and younger than those with uncomplicated disease.

  17. RHD alleles in the Tunisian population

    Science.gov (United States)

    Ouchari, Mouna; Jemni-Yaacoub, Saloua; Chakroun, Taher; Abdelkefi, Saida; Houissa, Batoul; Hmida, Slama

    2013-01-01

    Background: A comprehensive survey of RHD alleles in Tunisia population was lacking. The aim of this study was to use a multiplex RHD typing assay for simultaneous detection of partial D especially with RHD/RHCE deoxyribonucleic acid (DNA) sequence exchange mechanism and some weak D alleles. Materials and Methods: Six RHD specific primer sets were designed to amplify RHD exons 3, 4, 5, 6, 7 and 9. DNA from 2000 blood donors (1777 D+ and 223 D-) from several regions was selected for RHD genotyping using a PCR multiplex assay. Further molecular investigations were done to characterize the RHD variants that were identified by the PCR multiplex assay. Results: In the 1777 D+ samples, only 10 individuals showed the absence of amplification of exons 4 and 5 that were subsequently identified by PCR-SSP as weak D type 4 variants. No hybrid allele was detected. In the 223 D-, RHD amplification of some exons was observed only in 5 samples: 4 individuals expressed only RHD exon 9, and one subject lacking exons 4 and 5. These samples were then screened by PCR-SSPs on d(C) ces and weak D type 4, respectively. Conclusion: The weak D type 4 appears to be the most common D variant allele. We have not found any partial D variant. Findings also indicated that RHD gene deletion is the most prevalent cause of the D- phenotype in the Tunisian population. PMID:24014941

  18. Subgrouping of A and AB blood groups in Indian blood centres: is it required?

    Science.gov (United States)

    Hazarika, Ranjita; Basu, Sabita; Kaur, Paramjit

    2011-08-01

    Anti A1 antibody in the serum of A2 and A2B individuals is rare but when present can have laboratory and clinical significance. Routine subgrouping of all A and AB blood groups in blood centres in India is difficult due to economic constraints and has always been a point of debate. This study thus brings out the prevalence of anti A1 antibody and the clinical significance related to its presence. The results of the study showed a low prevalence of anti A1 antibody and when present, it had a low thermal amplitude and titre. Further, no blood group discrepancy or problems during compatibility testing were encountered with these (A1 antibody positive) blood units. Thus, it may be concluded that in India and other developing countries where resources are scarce, routine subgrouping of A and AB may not be really worthwhile unless there is a group discrepancy, problem during compatibility testing or history of a transfusion reaction.

  19. ABO Blood Group and Dementia Risk--A Scandinavian Record-Linkage Study.

    Directory of Open Access Journals (Sweden)

    Senthil K Vasan

    Full Text Available Dementia includes a group of neuro-degenerative disorders characterized by varying degrees of cognitive impairment. Recent data indicates that blood group AB is associated with impaired cognition in elderly patients. To date there are no large-scale studies that have examined the relationship between ABO blood group and dementia-related disorders in detail.We used data from the SCANDAT2 database that contains information on over 1.6 million blood donors from 1968 in Sweden and 1981 from Denmark. The database was linked with health outcomes data from nationwide patient and cause of death registers to investigate the relationship between blood groups and risk of different types of dementia. The incident rate ratios were estimated using log-linear Poisson regression models.Among 1,598,294 donors followed over 24 million person-years of observation we ascertained 3,615 cases of Alzheimer's disease, 1,842 cases of vascular dementia, and 9,091 cases of unspecified dementia. Overall, our study showed no association between ABO blood group and risk of Alzheimer's disease, vascular dementia or unspecified dementia. This was also true when analyses were restricted to donors aged 70 years or older except for a slight, but significantly decreased risk of all dementia combined in subjects with blood group A (IRR, 0.93; 95% confidence interval [CI], 0.88-0.98, compared to those with blood group O.Our results provide no evidence that ABO blood group influences the risk of dementia.

  20. ABO blood groups and oral premalignancies: A clinical study in selected Indian population.

    Science.gov (United States)

    Bhateja, S; Arora, G

    2014-01-01

    Background: The ABO blood group antigens are present on the surface of red blood cells and various epithelial cells. As the majority of human cancers are derived from epithelial cells, changes in blood group antigens constitute an important aspect of human cancers. The aim of the study was to establish clinical usefulness of ABO blood group as a predisposing factor in early diagnosis and management of patients with oral precancerous lesions/conditions. Materials and Methods: The study sample consisted of 50 control and 50 oral precancer (25 leukoplakia and 25 Oral Submucous Fibrosis) confirmed by histopathologic examination. All samples were subjected to blood group testing and their prevalence was compared by Z-test using STATA version 8. Results: The "A" blood group was prevalent among the precancerous group. Significant differences on prevalences of blood groups were found (P blood group. Conclusion: Blood group type should be considered along with other risk factors to understand the individual patient's risk and further studies in larger samples with inclusion of Rh factor is needed to elucidate the relationship with ABO blood group types.

  1. PP13, maternal ABO blood groups and the risk assessment of pregnancy complications.

    Directory of Open Access Journals (Sweden)

    Nandor Gabor Than

    Full Text Available Placental Protein 13 (PP13, an early biomarker of preeclampsia, is a placenta-specific galectin that binds beta-galactosides, building-blocks of ABO blood-group antigens, possibly affecting its bioavailability in blood.We studied PP13-binding to erythrocytes, maternal blood-group effect on serum PP13 and its performance as a predictor of preeclampsia and intrauterine growth restriction (IUGR. Datasets of maternal serum PP13 in Caucasian (n = 1078 and Hispanic (n = 242 women were analyzed according to blood groups. In vivo, in vitro and in silico PP13-binding to ABO blood-group antigens and erythrocytes were studied by PP13-immunostainings of placental tissue-microarrays, flow-cytometry of erythrocyte-bound PP13, and model-building of PP13--blood-group H antigen complex, respectively. Women with blood group AB had the lowest serum PP13 in the first trimester, while those with blood group B had the highest PP13 throughout pregnancy. In accordance, PP13-binding was the strongest to blood-group AB erythrocytes and weakest to blood-group B erythrocytes. PP13-staining of maternal and fetal erythrocytes was revealed, and a plausible molecular model of PP13 complexed with blood-group H antigen was built. Adjustment of PP13 MoMs to maternal ABO blood group improved the prediction accuracy of first trimester maternal serum PP13 MoMs for preeclampsia and IUGR.ABO blood group can alter PP13-bioavailability in blood, and it may also be a key determinant for other lectins' bioavailability in the circulation. The adjustment of PP13 MoMs to ABO blood group improves the predictive accuracy of this test.

  2. Association of ABO blood groups and major ischaemic heart disease risk factors

    International Nuclear Information System (INIS)

    Lutf-Ullah, L.; Akhtar, B.; Noor-Us-Saba; Hanif, A.; Khan, B.Z.; Bukhshi, I.M.

    2010-01-01

    To study the association of ABO blood groups with major ischaemic heart disease risk factors. Setting: Department of Cardiology, Mayo hospital, Lahore over a period of two years from January 2008 to December 2009. Study Design: Analytic comparative study. Subjects and Methods: The study group included 907 patients of ischaemic heart disease (IHD). The distribution of ABO blood groups in IHD patients was compared for presence or absence of major IHD risk factors. Data was analyzed using SPSS 16. ANOVA and Chi-square tests for significance were used. P-value less than 0.05 was taken as significant. Results: In this study, the following pattern of ABO blood groups was observed in IHD patients : blood group A 251 (27.67%); blood group B 329 (36.27%); blood group O 235 (25.91%); blood group AB 92 (10.14%). We found no relation-ship of ABO blood groups with age (p-value = 0.234), gender (p-value = 0.093), hypertension (p-value = 0.230), diabetes mellitus (p-value = 0.801), family history of IHD (p-value = 0.277), transverse ear lobe crease (p-value = 0.231), total cholesterol (p-value = 0.797), triglycerides (p-value = 0.351), low density lipoprotein (p-value = 0.078), high density lipoprotein (p-value = 0.114). Similarly no relationship was found of smoking, weight, height and body mass index with ABO blood groups, p-values 0.428, 0.528, 0.908 and 0.455 respectively. Conclusion: There is no association of ABO blood groups and major ischaemic heart disease risk factors. (author)

  3. Gene frequencies of ABO and rhesus blood groups and ...

    African Journals Online (AJOL)

    The distribution and gene frequencies of ABO and rhesus (Rh) blood groups and haemoglobin variants for samples of the Nigerian population at Ogbomoso was determined. Data consisting of records of blood groups and haemoglobin types of different ages ranging from infants to adults for a period of 4 to 6 years (1995 ...

  4. Ongoing Horizontal and Vertical Transmission of Virulence Genes and papA Alleles among Escherichia coli Blood Isolates from Patients with Diverse-Source Bacteremia

    Science.gov (United States)

    Johnson, James R.; O'Bryan, Timothy T.; Kuskowski, Michael; Maslow, Joel N.

    2001-01-01

    The phylogenetic distributions of multiple putative virulence factors (VFs) and papA (P fimbrial structural subunit) alleles among 182 Escherichia coli blood isolates from patients with diverse-source bacteremia were defined. Phylogenetic correspondence among these strains, the E. coli Reference (ECOR) collection, and other collections of extraintestinal pathogenic E. coli (ExPEC) was assessed. Although among the 182 bacteremia isolates phylogenetic group B2 predominated, exhibited the greatest concentration of individual VFs, and contained the largest number of familiar virulent clones, other phylogenetic groups exhibited greater concentrations of certain VFs than did group B2 and included several additional virulent clones. Certain of the newly detected VF genes, e.g., fyuA (yersiniabactin; 76%) and focG (F1C fimbriae; 25%), were as prevalent or more prevalent than their more familiar traditional counterparts, e.g., iut (aerobactin; 57%) and sfaS (S fimbriae; 14%), thus possibly offering additional useful targets for preventive interventions. Considerable diversity of VF profiles was observed at every level within the phylogenetic tree, including even within individual lineages. This suggested that many different pathways can lead to extraintestinal virulence in E. coli and that the evolution of ExPEC, which involves extensive horizontal transmission of VFs and continuous remodeling of pathogenicity-associated islands, is a highly active, ongoing process. PMID:11500406

  5. PP13, Maternal ABO Blood Groups and the Risk Assessment of Pregnancy Complications

    Science.gov (United States)

    Than, Nandor Gabor; Romero, Roberto; Meiri, Hamutal; Erez, Offer; Xu, Yi; Tarquini, Federica; Barna, Laszlo; Szilagyi, Andras; Ackerman, Ron; Sammar, Marei; Fule, Tibor; Karaszi, Katalin; Kovalszky, Ilona; Dong, Zhong; Kim, Chong Jai; Zavodszky, Peter; Papp, Zoltan; Gonen, Ron

    2011-01-01

    Background Placental Protein 13 (PP13), an early biomarker of preeclampsia, is a placenta-specific galectin that binds beta-galactosides, building-blocks of ABO blood-group antigens, possibly affecting its bioavailability in blood. Methods and Findings We studied PP13-binding to erythrocytes, maternal blood-group effect on serum PP13 and its performance as a predictor of preeclampsia and intrauterine growth restriction (IUGR). Datasets of maternal serum PP13 in Caucasian (n = 1078) and Hispanic (n = 242) women were analyzed according to blood groups. In vivo, in vitro and in silico PP13-binding to ABO blood-group antigens and erythrocytes were studied by PP13-immunostainings of placental tissue-microarrays, flow-cytometry of erythrocyte-bound PP13, and model-building of PP13 - blood-group H antigen complex, respectively. Women with blood group AB had the lowest serum PP13 in the first trimester, while those with blood group B had the highest PP13 throughout pregnancy. In accordance, PP13-binding was the strongest to blood-group AB erythrocytes and weakest to blood-group B erythrocytes. PP13-staining of maternal and fetal erythrocytes was revealed, and a plausible molecular model of PP13 complexed with blood-group H antigen was built. Adjustment of PP13 MoMs to maternal ABO blood group improved the prediction accuracy of first trimester maternal serum PP13 MoMs for preeclampsia and IUGR. Conclusions ABO blood group can alter PP13-bioavailability in blood, and it may also be a key determinant for other lectins' bioavailability in the circulation. The adjustment of PP13 MoMs to ABO blood group improves the predictive accuracy of this test. PMID:21799738

  6. Relative Susceptibilities of ABO Blood Groups to Plasmodium falciparum Malaria in Ghana

    Directory of Open Access Journals (Sweden)

    Richmond Afoakwah

    2016-01-01

    Full Text Available The clinical outcome of falciparum malaria in endemic areas is influenced by erythrocyte polymorphisms including the ABO blood groups. Studies have reported association of ABO blood group to resistance, susceptibility, and severity of P. falciparum malaria infection. Individuals with blood group “A” have been found to be highly susceptible to falciparum malaria whereas blood group “O” is said to confer protection against complicated cases. We analyzed samples from 293 young children less than six years old with malaria in the Korle-Bu Teaching Hospital in Accra, Ghana. It was observed that group O was present in about 16.1% of complicated cases weighed against 40.9% of uncomplicated controls. Individuals with complicated malaria were about twice likely to be of blood groups A and B compared to group O (A versus O, OR = 1.90, 95% CI = 1.59–2.26, P<0.0001; B versus O, OR = 1.82. 95% CI = 1.57–2.23, P<0.0001. Blood group O participants with complicated diseases had low parasitaemia compared to the other blood groups (P<0.0001. This may give blood group O individuals a survival advantage over the other groups in complicated malaria as suggested. Participants with complicated falciparum malaria were generally anaemic and younger than those with uncomplicated disease.

  7. Distribution of Abo and Rhesus D blood groups among the Bini ...

    African Journals Online (AJOL)

    Distribution of Abo and Rhesus D blood groups among the Bini ethnic group of ... (Rh) blood group antigens are hereditary characters and are useful in population ... ethnic groups earlier reported in Nigeria with slight variation in frequency.

  8. Association of ABO blood groups with diabetes mellitus | Kamil ...

    African Journals Online (AJOL)

    Objective: So far no studies have been performed in Malaysia to look at association of diabetes mellitus (DM) with blood groups. We studied the association of ABO blood groups with DM type 2. Patients and methodology: It was a case control study conducted at Kepala Batas Hospital Batas, Penang, Malaysia in the year ...

  9. Frequency of abo blood groups among the diabetes mellitus type 2 patients

    International Nuclear Information System (INIS)

    Qureshi, M.A.; Bhatti, R.

    2003-01-01

    Objective: To study the frequency of ABO blood groups among diabetes mellitus type 2. Results: Comparison of blood groups frequency between the general population and diabetes type 2 patients was carried out in term of percentage. It was noticed that the values were 4.36, 17.15 and 7.34% higher for A, B and AB blood groups respectively in the diabetic patients. On the contrary, the value was 28.94% lower for the blood group O. Conclusion: Present study has supported the hypothesis that diabetes mellitus type 2 and blood groups are interrelated because of the broad genetic immunologic basis in both. It is concluded that the frequency of blood groups B and O is significantly higher and lower respectively in the diabetes mellitus type 2 patients as compared to the general population. (author)

  10. ABO-Rh blood groups distribution in cardiac syndrome X patients

    OpenAIRE

    Kheradmand, Fatemeh; Rasmi, Yousef; Nemati, Mohaddeseh; Mohammadzad, Mir Hossein Seyed

    2012-01-01

    Background: Data on frequency distribution of ABO-Rh blood groups in cardiac syndrome X (CSX) patients are not available. We aimed to investigate the distribution of ABO-Rh blood groups in these patients. Materials and Methods: A total of 247 CSX patients’ records were reviewed in a cross-sectional study from 2006 to 2010. One hundred forty six patients (59.1%) were female, and the mean patient age was 52 ± 11 years. The frequency of ABO-Rh blood groups was compared to the frequency of these ...

  11. Erythrocyte enzymes in groups of Rattus norvegicus with genetic differences in 2,3-diphosphoglycerate levels.

    Science.gov (United States)

    Noble, N A; Tanaka, K R

    1979-01-01

    1. A major locus with two alleles is responsible for large differences in erythrocyte 2,3-diphosphoglycerate (DPG) levels in Rattus norvegicus. Blood from homozygous High-DPG, homozygous Low-DPG and heterozygous animals was used to measure blood indices and red cell enzyme activities. 2. Significant differences between groups were found in DPG levels, white blood cell counts and hemoglobin levels. 3. The results suggest that none of the red cell enzymes assayed is structurally or quantitatively different in the three groups.

  12. Metabolic and haemodynamic effects of oral glucose loading in young healthy men carrying the 825T-allele of the G protein β3 subunit

    Directory of Open Access Journals (Sweden)

    Wenzel Rene R

    2003-06-01

    Full Text Available Abstract Background A C825T polymorphism was recently identified in the gene encoding the β3 subunit of heterotrimeric G-proteins (GNB3. The T-allele is significantly associated with essential hypertension and obesity. In order to further explore a possible pathogenetic link between the T-allele and impaired glucose tolerance we studied metabolic and haemodynamic responses to oral glucose loading in young, healthy subjects with and without the 825T-allele. Methods Twelve subjects with and 10 without the 825T-allele were investigated at rest and following glucose ingestion (75 g. Blood glucose, serum insulin and haemodynamics were determined prior to and over 2 hours following glucose ingestion. We non-invasively measured stroke volume (SV, by impedance-cardiography, blood pressure (BP, heart rate (HR, and systolic-time-intervals. Cardiac output (CO was calculated from HR and SV. Total peripheral resistance was calculated from CO and BP. Metabolic and haemodynamic changes were quantified by maximal responses and by calculation of areas under the concentration time profile (AUC. Significances of differences between subjects with and without the T-allele were determined by unpaired two-tailed t-tests. A p Results Metabolic and haemodynamic parameters at baseline were very similar between both groups. The presence of the T-allele did not alter the response of any metabolic or haemodynamic parameter to glucose loading. Conclusions In conclusion, this study does not support the hypothesis that the C825T polymorphism may serve as a genetic marker of early impaired glucose tolerance.

  13. [Association of abo blood groups with gestational diabetes mellitus].

    Science.gov (United States)

    Huidobro M, Andrea; Torres C, Demetrio; Paredes, Fabio

    2017-04-01

    ABO and Rhesus blood systems are associated with type 2 Diabetes Mellitus (DM2). Gestational Diabetes (GDM) is a model to study DM. To study the association between GDM and ABO and Rhesus groups. A retrospective cohort study was performed in 1,078 women who gave birth to a singleton in Talca Regional Hospital, Chile, during 2008. We analyzed personal, obstetric, medical data and ABO and Rh blood groups. GDM was diagnosed in 6.6% of women. Age and body mass index were significantly associated with GDM. There were no differences in Rh blood groups (p = 0.604), while ABO groups were different between GDM and controls. B antigen was present in 3% of GDM women and in 10.8% of controls (p = 0.037), with an odds ratio of 0.25 after adjusting for other associated risk factors (p = 0.06). ABO group is suggested as a possible protector marker for GDM.

  14. Relationship between ABO blood groups and head and neck cancer among Greek patients.

    Science.gov (United States)

    Kakava, Kassiani; Karelas, Ioannis; Koutrafouris, Ioannis; Damianidis, Savvas; Stampouloglou, Paulos; Papadakis, Georgios; Xenos, Antonios; Krania, Foteini; Sarof, Paulos; Tasopoulos, Georgios; Petridis, Nikolaos

    2016-01-01

    We examined the association of ABO blood groups with the different types of head and neck cancers. 195 diagnosed cases and 801 controls were selected from a Greek tertiary cancer center. Information regarding type of head and neck cancer and ABO blood group was collected and registered. The O blood group was found to be most prevalent followed by A, B and AB among the controls, whereas blood group A followed by O, B and AB was most prevalent among cancer patients. The difference among the distribution between the cases and controls was statistically significant in blood group A (pblood group A had 1.52-fold higher risk of developing head and neck cancer compared to people of other blood groups. Blood group A was found to be a potential risk factor for the development of head and neck cancers.

  15. 21 CFR 864.9185 - Blood grouping view box.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Blood grouping view box. 864.9185 Section 864.9185 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Products Used In Establishments That Manufacture Blood...

  16. A CORRELATION BETWEEN ABO BLOOD GROUPS AND BODY MASS INDEX AMONG MEDICAL STUDENTS

    Directory of Open Access Journals (Sweden)

    Sarbjit Singh

    2017-11-01

    Full Text Available BACKGROUND ABO blood groups are associated with some important chronic diseases, obesity being the major risk factor is rising rapidly globally. The present study seeks to determine if there is any association between ABO blood groups and body mass index. MATERIALS AND METHODS The present study involve 200 medical students, 102 boys and 98 girls in the age group of 18-23 years in the Government Medical College, Amritsar. Weight, height for BMI and blood groups were determined in order to find any association between ABO blood group and BMI. RESULTS Overweight and obesity was found more prevalent in boys than girls, 22.5% students were overweight and 15.5% were obese. The prevalence of overweight was (24.52% boys and 20.40% girls and prevalence of obesity was (25.49% boys and 5.10% girls. Blood group B was reported the most common blood groups (37.5% followed by blood group O (32.0%, while blood groups A and AB were found 19.5% and 11% of participants, respectively. The prevalence of overweight (BMI 25-29.9 among participants based on blood group O, A, AB and B was 29.69%, 25.64%, 18.18%, 16.00%, while obesity (BMI >30 among participants based on blood groups B, O, A and AB was 24.00%, 10.94%, 10.26% and 9.09%. CONCLUSION Prevalence of overweight and obesity was more in blood group O and B respectively and was more in males than females

  17. Allele Workbench: transcriptome pipeline and interactive graphics for allele-specific expression.

    Directory of Open Access Journals (Sweden)

    Carol A Soderlund

    Full Text Available Sequencing the transcriptome can answer various questions such as determining the transcripts expressed in a given species for a specific tissue or condition, evaluating differential expression, discovering variants, and evaluating allele-specific expression. Differential expression evaluates the expression differences between different strains, tissues, and conditions. Allele-specific expression evaluates expression differences between parental alleles. Both differential expression and allele-specific expression have been studied for heterosis (hybrid vigor, where the hybrid has improved performance over the parents for one or more traits. The Allele Workbench software was developed for a heterosis study that evaluated allele-specific expression for a mouse F1 hybrid using libraries from multiple tissues with biological replicates. This software has been made into a distributable package, which includes a pipeline, a Java interface to build the database, and a Java interface for query and display of the results. The required input is a reference genome, annotation file, and one or more RNA-Seq libraries with optional replicates. It evaluates allelic imbalance at the SNP and transcript level and flags transcripts with significant opposite directional allele-specific expression. The Java interface allows the user to view data from libraries, replicates, genes, transcripts, exons, and variants, including queries on allele imbalance for selected libraries. To determine the impact of allele-specific SNPs on protein folding, variants are annotated with their effect (e.g., missense, and the parental protein sequences may be exported for protein folding analysis. The Allele Workbench processing results in transcript files and read counts that can be used as input to the previously published Transcriptome Computational Workbench, which has a new algorithm for determining a trimmed set of gene ontology terms. The software with demo files is available

  18. Allele specific expression and methylation in the bumblebee, Bombus terrestris

    Directory of Open Access Journals (Sweden)

    Zoë Lonsdale

    2017-09-01

    Full Text Available The social hymenoptera are emerging as models for epigenetics. DNA methylation, the addition of a methyl group, is a common epigenetic marker. In mammals and flowering plants methylation affects allele specific expression. There is contradictory evidence for the role of methylation on allele specific expression in social insects. The aim of this paper is to investigate allele specific expression and monoallelic methylation in the bumblebee, Bombus terrestris. We found nineteen genes that were both monoallelically methylated and monoallelically expressed in a single bee. Fourteen of these genes express the hypermethylated allele, while the other five express the hypomethylated allele. We also searched for allele specific expression in twenty-nine published RNA-seq libraries. We found 555 loci with allele-specific expression. We discuss our results with reference to the functional role of methylation in gene expression in insects and in the as yet unquantified role of genetic cis effects in insect allele specific methylation and expression.

  19. Apolipoprotein E4 allele does not influence serum triglyceride ...

    African Journals Online (AJOL)

    This study investigated how the APOε4 allele affects the serum triglyceride response after a fatmeal in apparently healthy black South African young adults. Sixty students were successfully screened for APOE genotype using Restriction Fragment Length Polymorphism (RFLP) and were divided into four groups; the ε2 allele ...

  20. ABO blood groups, Rhesus factor, and anaphylactic reactions due to Hymenoptera stings.

    Science.gov (United States)

    Pałgan, Krzysztof; Bartuzi, Zbigniew; Chrzaniecka, Elżbieta

    2017-09-21

    Numerous publications indicate that the prevalence of some infectious, neoplastic and immunological diseases are associated with ABO blood groups. The aim of this study was to verify whether ABO and Rh blood groups are associated with severe anaphylactic reactions after Hymenoptera stings. A study was undertaken of 71,441 Caucasian subjects living in the same geographic area. The study group included 353 patients with diagnosed systemic anaphylaxis to Hymenoptera venom. Control group included 71,088 healthy blood donors. Frequencies of ABO and Rhesus groups in the study and control groups were compared using univariate and multivariate analyses. No statistically significant interactions were observed between the ABO blood group and anaphylactic reactions to Hymenoptera.

  1. A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population.

    Science.gov (United States)

    Abbasi, Sakineh; Rasouli, Mina

    2017-06-01

    Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls. The duplication allele had a frequency of 35.4 and 21.2% in patients with breast cancer and normal controls, respectively. There was a significant increase in the frequency of the duplication allele in patients with familial breast cancer compared with controls (45.1%, P=0.001). Furthermore, the estimated risk of breast cancer in individuals with a homozygote [odds ratio (OR), 4.093; 95% confidence intervals (CI), 1.957‑8.561] or heterozygote duplicated genotype (OR, 3.315; 95% CI, 1.996‑5.506) was higher compared with the corresponding normal homozygote genotype. In conclusion, the present study indicated that the higher the frequency of the duplicated allele, the higher the risk of breast cancer. To the best of our knowledge, the present study is the first to report FANCA gene duplication in patients with breast cancer.

  2. Allele frequency distribution of D8S592 (STR) and PDGFA (VNTR) among five endogamous population groups of India.

    Science.gov (United States)

    Ahmad, Shazia; Seshadri, M

    2004-07-01

    Allele frequency distribution have been analyzed at D8S592 (short tandem repeat) and PDGFA (variable number of tandem repeat) among five distinct endogamous groups of India namely Ezhavas, Nayers, Arayas, Vishwakarma and Muslims. Muslims are religio-ethnic group while other populations mentioned above belong to distinct section of Hindu religion. All these populations are from Kollam district of Kerala in Southern India and speak Malayalam, an Indo-Dravidian language. A total of 228 for D8S592 and 212 for PDGFA loci, random, healthy individuals were analyzed.

  3. ABO blood groups and risk for obesity in Arar, Northern Saudi Arabia.

    Science.gov (United States)

    Aboel-Fetoh, Nagah M; Alanazi, Arwa R; Alanazi, Abdullah S; Alruwili, Asma N

    2016-12-01

    ABO blood groups are associated with some important chronic diseases. Previous studies have observed an association between ABO blood group and risk for obesity. This study aimed to determine whether there is an association between ABO blood groups and obesity in apparently healthy attendees of primary healthcare (PHC) centers in Arar city, Northern Saudi Arabia. This cross-sectional study included 401 participants aged 15 years and older attending three randomly selected PHC centers in Arar city. Data were collected by means of personal interview using a predesigned questionnaire. Anthropometric examination included height and weight measurements with calculation of BMI. ABO and Rh blood groups were determined. The majority of the participants were female (70.8%). The mean±SD age was 28.6±9.1 years. Only 5.7% were underweight. Both normal and overweight participants were equal in number and constituted 28.4%, whereas obese individuals constituted 37.4% with a mean BMI of 28.56±8.0. Blood group O was the most common (44.1%), followed by A (30.9%), B (18.7%), and AB (6.2%). Rh-positive cases constituted 87.0%. Blood group O was the most common type among the obese individuals (44.7%), followed by A, B, and AB groups (30, 20, and 5.3%, respectively). BMI was highest (28.8±9.2) in blood group O. There were no statistically significant differences between different ABO blood groups as regards BMI, Rh, and sex. Moreover, there was no statistically significant difference between Rh type and BMI. The prevalence of obesity and overweight is high in the population attending PHC centers of Arar city, Northern Saudi Arabia. There is no association between overweight, obesity, and ABO blood groups or Rh.

  4. Correlation of ABO blood groups with spontaneous recanalization in acute myocardial infarction.

    Science.gov (United States)

    Lin, Xian-Liang; Zhou, Bing-Yang; Li, Sha; Li, Xiao-Lin; Luo, Zhu-Rong; Li, Jian-Jun

    2017-08-01

    Although previous studies have demonstrated the relationship between ABO blood groups and cardiovascular disease, the association of ABO blood type with spontaneous recanalization (SR) in patients with acute myocardial infarction (AMI) has not been previously investigated. We performed an initial exploratory study on the association of ABO blood groups with the presence of SR in 1209 patients with AMI. They were divided into two groups according to the thrombolysis in myocardial infarction (TIMI) grades: no-SR group (TIMI 0-1, n = 442) and SR group (TIMI 2-3, n = 767). To confirm our primary findings, data from a second AMI population (n = 200) was analyzed. In the initial data, SR group had a significantly higher percentage of blood type O and a lower percentage of blood type A compared to the no-SR group. Multivariate logistic regression analysis showed that blood type O was positively associated with SR (odds ratio: 1.40, 95% confidence interval: 1.05-1.87, p = .02), and this finding was confirmed in our second population. The present study demonstrates that blood type O was independently and positively associated with an open culprit artery in patients with AMI, suggesting that the ABO blood type is not only associated with the susceptibility to coronary artery disease but also to spontaneous reperfusion in AMI patients.

  5. Associations between ABO blood groups and biochemical recurrence after radical prostatectomy.

    Science.gov (United States)

    Ohno, Yoshio; Ohori, Makoto; Nakashima, Jun; Okubo, Hidenori; Satake, Naoya; Takizawa, Issei; Hashimoto, Takeshi; Hamada, Riu; Nakagami, Yoshihiro; Yoshioka, Kunihiko; Tachibana, Masaaki

    2015-01-01

    Recent studies have demonstrated associations between ABO blood groups and prognosis in various types of cancers. The aim of this study was to investigate the association between ABO blood groups and biochemical recurrence (BCR) after radical prostatectomy (RP). A total of 555 patients with prostate cancer who underwent RP were included in the study. No patients received neoadjuvant and/or adjuvant therapy. The effect of ABO blood groups on BCR was examined using univariate and multivariate analyses. During the follow-up period (mean, 52.0 months), 166 patients (29.9%) experienced BCR, with a 5-year BCR-free rate of 67.3%. Although the ABO blood group was not a significantly associated with BCR in the univariate analysis, it was an independent predictor of BCR in the multivariate analysis: blood type O patients had a significantly lower risk of BCR compared to type A patients (Hazard ratio, 0.608; 95% confidence interval, 0.410-0.902; P = 0.014). Further analyses revealed that surgical margin status confounded the assessment of the association between the ABO blood group and BCR. In the analyses of patients with a negative surgical margin, the 5-year BCR-free rate in blood type O patients was a significantly higher than that in type A patients (91.2% vs. 71.0%; P = 0.026). Blood type O is significantly associated with a decreased risk of biochemical recurrence after radical prostatectomy. Further studies are needed to clarify the nature of this association.

  6. The pattern of distribution of ABO blood groups in North Western ...

    African Journals Online (AJOL)

    Background: Everybody over the age of about six months has clinically significant anti-A or Anti-B in their serum, if they lack the corresponding antigens on their red cells. ABO blood group antigens are the most important in blood transfusion services. This study was to determine the current incidence of ABO blood group ...

  7. a preliminary study of blood groups among students in bayelsa state

    African Journals Online (AJOL)

    honey

    2014-03-31

    Mar 31, 2014 ... The various blood groups and their distribution among the student population are as shown in table 1 and figure 1. Equally, the distribution of the Rhesus status among the student population is displayed in figure 2. Table 1: Distribution of ABO blood groups. Blood types. Frequency. Percentage. O. A. B. AB.

  8. Variation at ABO histo-blood group and FUT loci and diffuse and intestinal gastric cancer risk in a European population

    DEFF Research Database (Denmark)

    Duell, Eric J; Bonet, Catalina; Muñoz, Xavier

    2015-01-01

    ABO blood serotype A is known to be associated with risk of gastric cancer (GC), but little is known how ABO alleles and the fucosyltransferase (FUT) enzymes and genes which are involved in Lewis antigen formation [and in Helicobacter pylori (H. pylori) binding and pathogenicity] may be related t...

  9. CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: evidence for an allelic variant with altered catalytic activity.

    Science.gov (United States)

    Sata, F; Sapone, A; Elizondo, G; Stocker, P; Miller, V P; Zheng, W; Raunio, H; Crespi, C L; Gonzalez, F J

    2000-01-01

    To determine the existence of mutant and variant CgammaP3A4 alleles in three racial groups and to assess functions of the variant alleles by complementary deoxyribonucleic acid (cDNA) expression. A bacterial artificial chromosome that contains the complete CgammaP3A4 gene was isolated and the exons and surrounding introns were directly sequenced to develop primers to polymerase chain reaction (PCR) amplify and sequence the gene from lymphocyte DNA. DNA samples from Chinese, black, and white subjects were screened. Mutating the affected amino acid in the wild-type cDNA and expressing the variant enzyme with use of the baculovirus system was used to functionally evaluate the variant allele having a missense mutation. To investigate the existence of mutant and variant CgammaP3A4 alleles in humans, all 13 exons and the 5'-flanking region of the human CgammaP3A4 gene in three racial groups were sequenced and four alleles were identified. An A-->G point mutation in the 5'-flanking region of the human CgammaP3A4 gene, designated CgammaP3A4*1B, was found in the three different racial groups. The frequency of this allele in a white population was 4.2%, whereas it was 66.7% in black subjects. The CgammaP3A4*1B allele was not found in Chinese subjects. A second variant allele, designated CgammaP3A4*2, having a Ser222Pro change, was found at a frequency of 2.7% in the white population and was absent in the black subjects and Chinese subjects analyzed. Baculovirus-directed cDNA expression revealed that the CYP3A4*2 P450 had a lower intrinsic clearance for the CYP3A4 substrate nifedipine compared with the wild-type enzyme but was not significantly different from the wild-type enzyme for testosterone 6beta-hydroxylation. Another rare allele, designated CgammaP3A4*3, was found in a single Chinese subject who had a Met445Thr change in the conserved heme-binding region of the P450. These are the first examples of potential function polymorphisms resulting from missense mutations in

  10. Lack of any association between blood groups and lung cancer, independent of histology.

    Science.gov (United States)

    Oguz, Arzu; Unal, Dilek; Tasdemir, Arzu; Karahan, Samet; Aykas, Fatma; Mutlu, Hasan; Cihan, Yasemin Benderli; Kanbay, Mehmet

    2013-01-01

    Lung cancer, the leading cause of cancer deaths, is divided into 2 main classes based on its biology, therapy and prognosis: non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). Many cases are at an advanced stage at diagnosis, which is a major obstacle to improving outcomes. It is important to define the high risk group patients for early diagnosis and chance of cure. Blood group antigens are chemical components on erythrocyte membranes but they are also expressed on a variety of epithelial cells. Links between ABO blood groups with benign or malignant diseases, such as gastric and pancreas cancers, have been observed for a long time. In this study, we aimed to investigate any possible relationship between lung cancer histological subtypes and ABO-Rh blood groups. The files of 307 pathologically confirmed lung cancer patients were were reviewed retrospectively. Cases with a serologically determined blood group and Rh factor were included and those with a history of another primary cancer were excluded, leaving a total of 221. The distribution of blood groups of the lung cancer patients were compared with the distribution of blood groups of healthy donors admitted to the Turkish Red Crescent Blood Service in our city in the year 2012. There was no significant difference between patients with lung cancer of either type and the control group in terms of distribution of ABO blood groups and Rh factor (p: 0.073). There was also no relationship with non small cell cancer histological subtypes. In this study, we found no relationship between the ABO-Rhesus blood groups and NSCLC and SCLC groups. To our knowledge this is the first analysis of ABO blood groups in SCLC patients.

  11. COMPARATIVE ANALYSIS OF BLOOD GROUPING IN HEALTHY BLOOD DONOR USING GEL CARD TECHNIQUE AND TUBE METHOD

    Directory of Open Access Journals (Sweden)

    Muhammad Usman

    2016-12-01

    Full Text Available Blood grouping is a vital test in pre-transfusion testing. Both tube and gel agglutination assays are used for ABO grouping. The main object of this study was to compare ABO grouping and D typing on tube and gel agglutination assay in order to assess the efficacy of each technique. A total of 100 healthy blood donors irrespective of age and sex were included in this study. Results showed that there is no significant difference between these two techniques. However, in 10 samples it was detected that the reaction strength in serum ABO grouping by gel agglutination assay is varied by only one grade when compared to tube agglutination assay. Due to numerous positive effects of gel assay it is more beneficial to implement this technique in the setups where blood banks bear heavy routine work load.

  12. SMIM1 underlies the Vel blood group and influences red blood cell traits

    DEFF Research Database (Denmark)

    Cvejic, Ana; Haer-Wigman, Lonneke; Stephens, Jonathan C

    2013-01-01

    The blood group Vel was discovered 60 years ago, but the underlying gene is unknown. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel. To identify the responsible gene, we sequenced the exomes of five individuals negative...... and expression of the Vel antigen on SMIM1-transfected cells confirm SMIM1 as the gene underlying the Vel blood group. An expression quantitative trait locus (eQTL), the common SNP rs1175550 contributes to variable expression of the Vel antigen (P = 0.003) and influences the mean hemoglobin concentration of red...... blood cells (RBCs; P = 8.6 × 10(-15)). In vivo, zebrafish with smim1 knockdown showed a mild reduction in the number of RBCs, identifying SMIM1 as a new regulator of RBC formation. Our findings are of immediate relevance, as the homozygous presence of the deletion allows the unequivocal identification...

  13. The distribution of the ABO blood groups among the diabetes ...

    African Journals Online (AJOL)

    The distribution of the ABO blood groups among the diabetes mellitus patients. ... Among diabetic men, the frequency of only blood group B was significantly higher, while on the contrary among diabetic women the frequency of both A and B (29.7% vs. 24.8%; P = 0.03 and 25.5% vs. 20%; P < 0.009, respectively) were ...

  14. Histo-blood group carbohydrates as facilitators for infection by Helicobacter pylori.

    Science.gov (United States)

    Brandão de Mattos, Cinara Cássia; de Mattos, Luiz Carlos

    2017-09-01

    Helicobacter pylori infect millions of people around the world. It occupies a niche in the human gastrointestinal tract characterized by high expression of a repertoire of carbohydrates. ABO and Lewis histo-blood group systems are controlled by genes coding for functional glycosyltransferases which synthesize great diversity of related fucosylated carbohydrate in different tissues, including gastrointestinal mucosa, and exocrine secretions. The structural diversity of histo-blood group carbohydrates is highly complex and depends on epistatic interactions among gene-encoding glycosyltransferases. The histo-blood group glycosyltransferases act in the glycosylation of proteins and lipids in the human gastrointestinal tract allowing the expression of a variety of potential receptors in which H. pylori can adhere. These oligosaccharide molecules are part of the gastrointestinal repertoire of carbohydrates which act as potential receptors for microorganisms, including H. pylori. This Gram-negative bacillus is one of the main causes of the gastrointestinal diseases such as chronic active gastritis, peptic ulcer, and cancer of stomach. Previous reports showed that some H. pylori strains use carbohydrates as receptors to adhere to the gastric and duodenal mucosa. Since some histo-blood group carbohydrates are highly expressed in one but not in others histo-blood group phenotypes it has pointed out that quantitative differences among them influence the susceptibility to diseases caused by H. pylori. Additionally, some experiments using animal model are helping us to understand how this bacillus explore histo-blood group carbohydrates as potential receptors, offering possibility to explore new strategies of management of infection, disease treatment, and prevention. This text highlights the importance of structural diversity of ABO and Lewis histo-blood group carbohydrates as facilitators for H. pylori infection. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. ABO Blood Group and Dementia Risk--A Scandinavian Record-Linkage Study

    DEFF Research Database (Denmark)

    Vasan, Senthil K; Rostgaard, Klaus; Ullum, Henrik

    2015-01-01

    ,615 cases of Alzheimer's disease, 1,842 cases of vascular dementia, and 9,091 cases of unspecified dementia. Overall, our study showed no association between ABO blood group and risk of Alzheimer's disease, vascular dementia or unspecified dementia. This was also true when analyses were restricted to donors......BACKGROUND: Dementia includes a group of neuro-degenerative disorders characterized by varying degrees of cognitive impairment. Recent data indicates that blood group AB is associated with impaired cognition in elderly patients. To date there are no large-scale studies that have examined...... the relationship between ABO blood group and dementia-related disorders in detail. METHODS: We used data from the SCANDAT2 database that contains information on over 1.6 million blood donors from 1968 in Sweden and 1981 from Denmark. The database was linked with health outcomes data from nationwide patient...

  16. A DEL phenotype attributed to RHD Exon 9 sequence deletion: slipped-strand mispairing and blood group polymorphisms.

    Science.gov (United States)

    Lopez, Genghis H; Turner, Robyn M; McGowan, Eunike C; Schoeman, Elizna M; Scott, Stacy A; O'Brien, Helen; Millard, Glenda M; Roulis, Eileen V; Allen, Amanda J; Liew, Yew-Wah; Flower, Robert L; Hyland, Catherine A

    2018-03-01

    The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, initially, based on genomic and cDNA studies, the genetic basis for a DEL phenotype in Taiwan was attributed to a deletion of RHD Exon 9 that was never verified at the genomic level by any other independent group. Here we investigate the genetic basis for a Caucasian donor with a DEL partial D phenotype and compare the genomic findings to those initial molecular studies. The 3'-region of the RHD gene was amplified by long-range polymerase chain reaction (PCR) for massively parallel sequencing. Primers were designed to encompass a deletion, flanking Exon 9, by standard PCR for Sanger sequencing. Targeted sequencing of exons and flanking introns was also performed. Genomic DNA exhibited a 1012-bp deletion spanning from Intron 8, across Exon 9 into Intron 9. The deletion breakpoints occurred between two 25-bp repeat motifs flanking Exon 9 such that one repeat sequence remained. Deletion mutations bordered by repeat sequences are a hallmark of slipped-strand mispairing (SSM) event. We propose this genetic mechanism generated the germline deletion in the Caucasian donor. Extensive studies show that the RHD*1227A is the most prevalent DEL allele in East Asian populations and may have confounded the initial molecular studies. Review of the literature revealed that the SSM model explains some of the extreme polymorphisms observed in the clinically significant RhD blood group antigen. © 2017 AABB.

  17. The distribution of the ABO and Rhesus blood groups among an ...

    African Journals Online (AJOL)

    Background: In this study, the authors set out to find out the ABO-RhD blood group distribution among Idoma, an indigenous ethnic group in the middle belt of Nigeria in view of the paucity of such information about the ethnic group. Methodology: 2,000 blood donor volunteers were randomly selected from the Idoma ...

  18. ABO and Rh blood groups frequency in women with HER2 positive breast cancer.

    Science.gov (United States)

    Urun, Y; Utkan, G; Altundag, K; Arslan, O; Onur, H; Arslan, U Y; Kocer, M; Dogan, I; Senler, F C; Yalcin, B; Demirkazik, A; Akbulut, H; Icli, F

    2012-01-01

    The role of genetic factors in the development of cancer is widely accepted. Data on the role of ABO blood group and Rh factor in breast cancer is inconclusive. The aim of this study was to investigate the presence of a possible association between HER2 (+) breast cancer in Turkish women and ABO blood groups and Rh factor. In 294 female patients with HER2 (+) breast cancer, ABO blood groups and Rh factor were examined. The relationship of blood groups with age, menopausal status, and family history of cancer, estrogen receptor (ER), progesterone receptor (PR) and HER2 status of these patients was evaluated. Blood groups distribution of 22,821 healthy blood donors was also assessed and compared with the patients' blood groups distribution. The median patient age was 47 years (range 20-80) and 56% of the patients were premenopausal. ER and PR were positive in 50 and 60% of the patients, respectively. Overall, the ABO blood group distribution of the 294 HER2 (+) breast cancer patients was similar to that of the healthy blood donors (p=0.36). Likewise there was no correlation between blood type and ER, PR and menopausal status. Rh (-) patients had more frequent family cancer history and this difference was significant for patients with blood group B Rh (-) and O Rh (-) (p = 0.04). In the present study we didn't find any relationship between HER2 status and ABO blood group and Rh factor. However, further studies with larger number of patients are needed to establish the role (if any) of blood groups in patients with breast cancer.

  19. Qualitative Analysis of Primary Fingerprint Pattern in Different Blood Group and Gender in Nepalese

    Directory of Open Access Journals (Sweden)

    Sudikshya KC

    2018-01-01

    Full Text Available Dermatoglyphics, the study of epidermal ridges on palm, sole, and digits, is considered as most effective and reliable evidence of identification. The fingerprints were studied in 300 Nepalese of known blood groups of different ages and classified into primary patterns and then analyzed statistically. In both sexes, incidence of loops was highest in ABO blood group and Rh +ve blood types, followed by whorls and arches, while the incidence of whorls was highest followed by loops and arches in Rh −ve blood types. Loops were higher in all blood groups except “A –ve” and “B –ve” where whorls were predominant. The fingerprint pattern in Rh blood types of blood group “A” was statistically significant while in others it was insignificant. In middle and little finger, loops were higher whereas in ring finger whorls were higher in all blood groups. Whorls were higher in thumb and index finger except in blood group “O” where loops were predominant. This study concludes that distribution of primary pattern of fingerprint is not related to gender and blood group but is related to individual digits.

  20. GENETIC POLYMORPHISM AND CYTOGENETIC CHANGES IN THE PERIPHERAL BLOOD T-LYMPHOCYTES OF PATIENTS WITH ARTHRITIS ASSOCIATED WITH IXODES TICK-BORNE BORRELIOSIS IN THE NORTHERN REGIONS OF SIBERIA

    Directory of Open Access Journals (Sweden)

    N. N. Ilyinskikh

    2017-01-01

    Full Text Available The authors have previously conducted studies that demonstrate the increased level of cytogenetic disturbances in patients with Ixodes tick-borne borreliosis (ITB. The severity of arthritis associated with ITB (AITB is also ascertained to depend on whether the patient has certain HLA-DRB1 alleles.Objective: to assess the association between HLA-DRB1 gene polymorphism and cytogenetic changes in the peripheral blood T lymphocytes of patients with AITB.Subjects and methods. 146 patients with AITB, 100 clinically healthy convalescents with ITB (CITB, and a control group of 98 healthy blood donors (HBDs without a history of tick-borne infections were examined using cytogenetic (micronucleus analysis of cytokinesis-blocked peripheral blood T lymphocytes and molecular genetic (PCR analysis of HLA-DRB1 gene polymorphism methods.Results and discussion. The frequency of cytokinesis-blocked lymphocytes with micronuclei in the AITB group was significantly higher than that in the CITB and HBD groups (p<0.01 with the exception of the results obtained in the subgroup of patients with AITB who had the DRB1*10 allele (p>0.05. The highest levels of lymphocytes with micronuclei were observed in AITB patients with the DRB1*17(03, *01, and *04 alleles as compared to those in the CITB and HBD groups (p<0.001. The CITB group showed the most significant increase in the detection rate of lymphocytes with micronuclei in people with the DRB1*01, DRB1*04, or *17(03 alleles. At the same time, there were no significant differences in the number of lymphocytes with micronuclei in the HBD group, depending on the HLA-DRB1 gene alleles (p>0.05. Thus, the patients with AITB had the highest frequency of cytogenetic disorders with the exception of individuals with the DRB1*10 allele.

  1. Reduced prevalence of placental malaria in primiparae with blood group O

    NARCIS (Netherlands)

    Bedu-Addo, George; Gai, Prabhanjan P.; Meese, Stefanie; Eggelte, Teunis A.; Thangaraj, Kumarasamy; Mockenhaupt, Frank P.

    2014-01-01

    Blood group O protects African children against severe malaria and has reached high prevalence in malarious regions. However, its role in malaria in pregnancy is ambiguous. In 839 delivering Ghanaian women, associations of ABO blood groups with Plasmodium falciparum infection were examined.

  2. Distribution of ABO blood groups in the patients with intracranial aneurysm and association of different risk factors with particular blood type.

    Science.gov (United States)

    Bir, Shyamal Chandra; Bollam, Papireddy; Nanda, Anil

    2015-01-01

    The association between ABO blood groups and intracranial aneurysms is not well-known. Many co-morbid factors are associated with intracranial aneurysms. Our objective was to assess the prevalence of different blood group in patients with intracranial aneurysm and to look for associations between risk factors and these groups. This retrospective study includes 1,491 cases who underwent surgical operations for intracranial aneurysms from 1993-2014. We have evaluated the information related to clinical history, ABO blood groups and associated risk factors in the patients both ruptured and unruptured intracranial aneurysms by chart review of the cases. In our study, out of 1,491 cases, the most common ABO blood groups were group O (668 cases, 44.80%) and Group A (603 cases, 40.44%), and Rh(+) in 1,319 (88.4%) and Rh(-) in 147 (11.6%). Blood Group A (43% vs. 36%) and Group B (16.2% vs. 8.6%) were significantly higher in Caucasian and African Americans respectively. However, in general population, there was no significant difference in blood groups between Caucasians and African Americans. Rh(-) factor was significantly higher in Caucasians compared to African Americans. Incidence of smoking was significantly higher in aneurysm patients with O group compared to others. In addition, incidence of hypercholesterolemia was significantly higher in aneurysm patients with A group compared to others. The racial disparity in the distribution of blood groups, and risk factor association with blood groups in the development of intracranial aneurysm needs to be considered. The findings from our study may be useful in identifying patients at increased risk. Further study may be required to establish the risks from multiple centers studies around the world.

  3. Assessment of the myostatin Q204X allele using an allelic discrimination assay

    OpenAIRE

    Sifuentes-Rincón,Ana M.; Puentes-Montiel,Herlinda E.; Moreno-Medina,Víctor R.; Rosa-Reyna,Xóchitl F. de la

    2006-01-01

    An allelic discrimination assay was designed and used to determine the genotypic and allelic frequencies of the myostatin (MSTN) gene Q204X allele from two Mexican Full-French herds. The assay is a simple high throughput genotyping method that could be applied to investigate the effect of the Q204X allele on the Charolais breed.

  4. Relevance of blood groups in transfusion of sickle cell disease patients.

    Science.gov (United States)

    Noizat-Pirenne, France

    2013-03-01

    Blood groups are clinically significant in sickle cell disease (SCD) as transfusion remains a key treatment in this pathology. The occurrence of a delayed haemolytic transfusion reaction (DHTR) is not rare and is a life-threatening event. The main cause of DHTR is the production of alloantibodies against red blood cell antigens. The high rate of alloimmunization in SCD patients is mainly due to the differences of red blood groups between patients of African descent, and the frequently Caucasian donors. From an immuno-haematological point of view, DHTR in SCD patients has specific features: classical antibodies known to be haemolytic can be encountered, but otherwise non significant antibodies, autoantibodies and antibodies related to partial and rare blood groups are also frequently found in individuals of African descent. In some cases, there are no detectable antibodies. As alloimmunization remains the main cause of DHTR, it is extremely important to promote blood donation by individuals of African ancestry to make appropriate blood available. Copyright © 2012 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  5. An ABO blood grouping discrepancy: Probable B(A) phenotype.

    Science.gov (United States)

    Jain, Ashish; Gupta, Anubhav; Malhotra, Sheetal; Marwaha, Neelam; Sharma, Ratti Ram

    2017-06-01

    In B(A) phenotype, an autosomal dominant phenotype, there is a weak A expression on group B RBCs. We herein report a case of a probable B(A) phenotype in a first time 20-year old male donor. The cell and serum grouping were done using tube technique and also with blood grouping gel card (Diaclone, ABD cards for donors, BioRad, Switzerland). The antisera used were commercial monoclonal IgM type. To check for the weak subgroup of A, cold adsorption and heat elution was performed. The cell grouping was A weak B RhD positive while the serum grouping was B. There was no agglutination with O cells and the autologous control was also negative. It was a group II ABO discrepancy with or without group IV discrepancy. Results for both the eluate and last wash were negative. Hence, the possibility of weak subgroup of A was unlikely. Blood grouping gel card also showed a negative reaction in the anti-A column. One lot of anti-A was showing 'weak +' agglutination while the other lot was showing 'negative' reaction with the donor RBCs by tube technique. There was no agglutination observed with anti-A1 lectin. Our case highlights the serological characteristics of a B(A) phenotype. This case emphasizes the vital role of cell and serum grouping in detecting such discrepancies especially in donors which can lead to mislabeling of the blood unit and may be a potential risk for the transfusion recipient if not resolved appropriately. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. [Racism of "Blood" and colonial medicine - Blood group anthropology studies at Keijo Imperial University Department of Forensic Medicine].

    Science.gov (United States)

    Jung, Joon Young

    2012-12-01

    This paper attempts to explore implications of Colonial medicine's Blood Type Studies, concerning the characteristics and tasks of racism in the Japanese Colonial Empire. Especially, it focuses on the Blood Group Anthropology Studies at Keijo Imperial University Department of Forensic Medicine. In Colonial Korea, the main stream of Blood Type Studies were Blood Group Anthropology Studies, which place Korean people who was inferior to Japanese people in the geography of the race on the one hand, but on the other, put Koreans as a missing link between the Mongolian and the Japanese for fulfillment of the Japanese colonialism, that is, assimilationist ideology. Then, Compared to the Western medicine and Metropole medicine of Japan, How differentiated was this tendency of Colonial Medicine from them? In this paper, main issues of Blood Group Anthropology Studies and its colonial implications are examined. The Korean Society for the History of Medicine.

  7. Distribution of ABO and Rh Blood Groups in Patients With Keratoconus: A Case-Control Study.

    Science.gov (United States)

    Naderan, Mohammad; Rajabi, Mohammad Taher; Shoar, Saeed; Kamaleddin, Mohammad Amin; Naderan, Morteza; Rezagholizadeh, Farzaneh; Zolfaghari, Masoome; Pahlevani, Rozhin

    2015-07-01

    Association of keratoconus (KC) with genetic predisposition and environmental factors has been well documented. However, no single study has investigated the possible relationship between ABO and Rh blood groups and KC. A case-control study was designed in a university hospital enrolling 214 patients with KC in the case group and equal number of age- and sex-matched healthy subjects in the control group. Primary characteristics, ABO blood group, and Rh factors were compared between the two groups. Topographic findings of KC eyes and the severity of the diseases were investigated according to the distribution of the blood groups. Blood group O and Rh(+) phenotype were most frequent in both groups. There was no significant difference between the two groups in terms of ABO blood groups or Rh factors. Mean keratometery (K), central corneal thickness, thinnest corneal thickness, flat K, steep K, sphere and cylinder, spherical equivalent, and uncorrected visual acuity were all similar between ABO blood groups and Rh(+) and Rh(-) groups. However, the best spectacle-corrected visual acuity (BCVA) had the highest value in AB blood group (0.35 ± 0.22 logMAR, P=0.005). Moreover, the blood group AB revealed the highest frequency for grade 3 KC, followed by grades 1, 2, and 4 (P=0.003). We observed no significant excess of any particular blood group among KC cases compared with healthy subjects. Except BCVA, none of the keratometric or topographic findings was significantly different between blood groups.

  8. ABO and Rh (D group distribution and gene frequency; the first multicentric study in India

    Directory of Open Access Journals (Sweden)

    Amit Agrawal

    2014-01-01

    Full Text Available Background and Objectives: The study was undertaken with the objective to provide data on the ABO and Rh(D blood group distribution and gene frequency across India. Materials and Methods: A total of 10,000 healthy blood donors donating in blood banks situated in five different geographical regions of the country (North, South, East and Center were included in the study. ABO and Rh (D grouping was performed on all these samples. Data on the frequency of ABO and Rh(D blood groups was reported in simple numbers and percentages. Results: The study showed that O was the most common blood group (37.12% in the country closely followed by B at 32.26%, followed by A at 22.88% while AB was the least prevalent group at 7.74%. 94.61% of the donor population was Rh positive and the rest were Rh negative. Regional variations were observed in the distribution. Using the maximum likelihood method, the frequencies of the I A , I B and I O alleles were calculated and tested according to the Hardy Weinberg law of Equilibrium. The calculated gene frequencies are 0.1653 for I A (p, 0.2254 for I B (q and 0.6093 for I O (r. In Indian Population, O (r records the highest value followed by B (q and A (p; O > B > A. Conclusion: The study provides information about the relative distribution of various alleles in the Indian population both on a pan-India basis as well as region-wise. This vital information may be helpful in planning for future health challenges, particularly planning with regards to blood transfusion services.

  9. Thrombin Generating Capacity and Phenotypic Association in ABO Blood Groups.

    Science.gov (United States)

    Kremers, Romy M W; Mohamed, Abdulrahman B O; Pelkmans, Leonie; Hindawi, Salwa; Hemker, H Coenraad; de Laat, H Bas; Huskens, Dana; Al Dieri, Raed

    2015-01-01

    Individuals with blood group O have a higher bleeding risk than non-O blood groups. This could be explained by the lower levels of FVIII and von Willebrand Factor (VWF) levels in O individuals. We investigated the relationship between blood groups, thrombin generation (TG), prothrombin activation and thrombin inactivation. Plasma levels of VWF, FVIII, antithrombin, fibrinogen, prothrombin and α2Macroglobulin (α2M) levels were determined. TG was measured in platelet rich (PRP) and platelet poor plasma (PPP) of 217 healthy donors and prothrombin conversion and thrombin inactivation were calculated. VWF and FVIII levels were lower (75% and 78%) and α2M levels were higher (125%) in the O group. TG is 10% lower in the O group in PPP and PRP. Less prothrombin was converted in the O group (86%) and the thrombin decay capacity was lower as well. In the O group, α2M plays a significantly larger role in the inhibition of thrombin (126%). In conclusion, TG is lower in the O group due to lower prothrombin conversion, and a larger contribution of α2M to thrombin inactivation. The former is unrelated to platelet function because it is similar in PRP and PPP, but can be explained by the lower levels of FVIII.

  10. [Serological Characteristics and Family Survey of 3 Cases of H-deficient Blood Group].

    Science.gov (United States)

    Geng, Wei; Gao, Huan-Huan; Zhang, Lin-Wei

    2016-06-01

    To investigate the serological characteristics and the genetic status of the family of H-deficient blood group in Jining area of Shandong province in China. ABO, H, and Lewis blood groups in 3 probands were screened out by the serological method, and saliva testing was performed on all the individuals. The presence of weak A or B on the RBC was confirmed by using the adsorption-elution procedure. Three cases of H-deficient blood group were identified to be para-Bombay blood group (secretor), out of 3 cases, 2 cases were Bh, 1 case was Ah, and anti-H or anti-HI antibody was detected in their serum. Three cases of H-deficerent blood group are para-Bombay phenotype, among them one proband's parents have been confirmed to be consanguineous relationship.

  11. The relation of abo and Rh blood groups, sex, age and myocardial infraction

    International Nuclear Information System (INIS)

    Siddiqui, Z.H.; Chaudhry, M.A.; Butt, H.

    2009-01-01

    The present studies have determined the relationship of myocardial infarction with ABO and Rh blood group system gender and age' in the population of Punjab province, Pakistan. One thousand and thirty patients of myocardial infarction were selected from Punjab Institute of Cardiology, Sheikh Zaid Hospital and Jinnah Hospital Lahore. All these patients were diagnosed by physicians according to standard methods. Blood group of patients was determined by agglutination method. Blood group data of same number of normal subjects was collected from blood banks and residential areas of Lahore city for comparison. A significant relationship was observed both for blood group A and Rh-negative in myocardial infarction patients. It was also observed that male individuals in age group of 51 -60 years are more vulnerable to myocardial infarction. (author)

  12. [Association between ABO blood groups and coronary heart disease in Chinese Guangxi Zhuang population].

    Science.gov (United States)

    Shi, Ying; Lin, Yingzhong; Liu, Hairun; Ji, Qingwei; Lu, Zhihong; Lu, Zhengde; Xu, Nengwen; Yuan, Jun; Liu, Ling

    2015-09-01

    To investigate this association between ABO blood groups and coronary heart disease (CHD) in the Chinese Guangxi Zhuang population. From August 2010 to April 2013, we performed a case-control study in a Chinese Zhuang population, which included 1 024 CHD cases and 1 024 age and gender-matched non-CHD controls. The ABO blood groups and biological variables were measured by standard laboratory procedures. The Gensini score was used to evaluate the severity of coronary artery stenosis. Compared to non-CHD control group, CHD group had higher levels of fasting blood glucose ((6.71 ± 6.72) mmol/L vs. (4.98 ± 1.55) mmol/L, P blood groups were associated with CHD risk in the Chinese Zhuang population. Compared with group O, the group B individuals had a higher risk of CHD (OR = 2.33, 95% CI 1.88-2.90, P group O subjects in the CHD group, and MACE at 1-year follow-up was similar between ABO blood groups of CHD individuals. ABO blood groups are associated with CHD risk in the Chinese Zhuang population.

  13. A Study of Thumb Print Patterns and ABO Blood Group Distribution ...

    African Journals Online (AJOL)

    The aim of this study was to establish a possible relationship between thumb print pattern and ABO blood group distribution. The study involves two hundred and nine-two volunteers comprising 159 female and 133 male. The blood group and finger print patterns were determined using standard techniques. Results ...

  14. Correlation of Lip Prints with Gender, ABO Blood Groups and Intercommissural Distance.

    Science.gov (United States)

    Verma, Pradhuman; Sachdeva, Suresh K; Verma, Kanika Gupta; Saharan, Swati; Sachdeva, Kompal

    2013-07-01

    In forensics, the mouth allows for a myriad of possibilities. Lip print on glass or cigarette butt found at crime scenes may link to a suspect. Hence, a dentist has to actively play his role in personal identification and criminal investigation. To investigate the uniqueness of the lip print patterns in relation to gender, ABO blood groups and intercommissural distance (ICD). The study was conducted on 208 randomly selected students. The lip print of each subject was obtained and pattern was analyzed according to Tsuchihashi classification. The blood group and ICD at rest position was recorded for each. The study showed that Type II (branched) lip pattern to be most prominent. The B+ blood group was the most common in both genders and the ICD is higher in males. The lip print pattern does not show any correlation between ABO blood groups, gender, and ICD. The lip print pattern shows no correlation with gender, ABO blood groups, or ICD. Further studies with larger samples are required to obtain statistical significance of this correlation.

  15. Investigating the relationship between FMR1 allele length and cognitive ability in children: a subtle effect of the normal allele range on the normal ability range?

    Science.gov (United States)

    Loat, C S; Craig, G; Plomin, R; Craig, I W

    2006-09-01

    The FMR1 gene contains a trinucleotide repeat tract which can expand from a normal size of around 30 repeats to over 200 repeats, causing mental retardation (Fragile X Syndrome). Evidence suggests that premutation males (55-200 repeats) are susceptible to a late-onset tremor/ataxia syndrome and females to premature ovarian failure, and that intermediate alleles ( approximately 41-55 repeats) and premutations may be in excess in samples with special educational needs. We explored the relationship between FMR1 allele length and cognitive ability in 621 low ability and control children assessed at 4 and 7 years, as well as 122 students with high IQ. The low and high ability and control samples showed no between-group differences in incidence of longer alleles. In males there was a significant negative correlation between allele length and non-verbal ability at 4 years (p = 0.048), academic achievement in maths (p = 0.003) and English (p = 0.011) at 7 years, and IQ in the high ability group (p = 0.018). There was a significant negative correlation between allele length and a standardised score for IQ and general cognitive ability at age 7 in the entire male sample (p = 0.002). This suggests that, within the normal spectrum of allele length, increased repeat numbers may have a limiting influence on cognitive performance.

  16. Beta2-adrenergic receptor allele frequencies in the Quechua, a high altitude native population.

    Science.gov (United States)

    Rupert, J L; Monsalve, M V; Devine, D V; Hochachka, P W

    2000-03-01

    The beta2-adrenergic receptor is involved in the control of numerous physiological processes and, as the primary catecholamine receptor in the lungs, is of particular importance in the regulation of pulmonary function. There are several polymorphic loci in the beta2-adrenergic receptor gene that have alleles that alter receptor function, including two (A/G46, G/C79) that increase agonist sensitivity. As such a phenotype may increase vaso and bronchial dilation, thereby facilitating air and blood flow through the lungs, we hypothesized that selection may have favoured these alleles in high altitude populations as part of an adaptive strategy to deal with the hypoxic conditions characteristic of such environments. We tested this hypothesis by determining the allele frequencies for these two polymorphisms, as well one additional missense mutation (C/T491) and two silent mutations (G/A252 and C/A523) in 63 Quechua speaking natives from communities located between 3200 and 4200 m on the Peruvian altiplano. These frequencies were compared with those of two lowland populations, one native American (Na-Dene from the west coast of Canada) and one Caucasian of Western European descent. The Quechua manifest many of the pulmonary characteristics of high altitude populations and differences in allele frequencies between the Quechua and lowlanders could be indicative of a selective advantage conferred by certain genotypes in high altitude environments. Allele frequencies varied between populations at some loci and patterns of linkage disequilibrium differed between the old-world and new-world samples; however, as these populations are not closely related, significant variation would be expected due to stochastic effects alone. Neither of the alleles associated with increased receptor sensitivity (A46, G79) was significantly over-represented in the Quechua compared with either lowland group. The Quechua were monomorphic for the C allele at base 79. This variant has been

  17. Transmission of hepatitis-B virus through salivary blood group antigens in saliva

    International Nuclear Information System (INIS)

    Meo, S.A.; Abdo, A.A.; Baksh, N.D.; Sanie, F.M.

    2010-01-01

    To determine an association between transmission of hepatitis B virus and secretor and non-secretor status of salivary blood group antigens. Study Design: Cross-sectional, analytical study. Place and Duration of Study: The Department of Physiology and Division of Hepatology, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia, from 2007 to 2009. Methodology: Eighty eight known patients, who were positive for Hepatitis B Surface Antigen [HBsAg] were recruited. Saliva was collected for investigating the secretor and non-secretor status by using blood typing kit number Kemtec Educational Science USA. Hepatitis B Surface antigen test was performed on Enzyme Linked Immunosorbent Assay technique. Polymerase chain reaction [PCR] on saliva was also carried out in High Performance Thermal Cycler-Palm- Cycler [Corbett Life Science, Sydney, Australia] and enzymatic amplification of extracted viral DNA was performed using primers covering the promoter of the core region of HBV. Results: Out of the 88 subjects, 61 belong to blood group O, 20 to A and 7 subjects to blood group B. Fifty subjects were secretors [salivary blood group antigens positive] and 38 subjects were non-secretors [salivary blood group antigens negative]. Among core gene positive 25 (69.4%) were secretors and 11 (30.6%) were non-secretors. However, in core gene negative 25 (48.1%) were secretors and 27 (51.9%) were non-secretors. Conclusion: The result shows an association [p=0.047] between secretor and non-secretors status of the salivary blood group antigens with core gene positive and core gene negative. (author)

  18. Nitric oxide synthase gene G298 allele

    International Nuclear Information System (INIS)

    Nagib El-Kilany, Galal E.; Nayel, Ehab; Hazzaa, Sahar

    2004-01-01

    Background: Nitric oxide (NO) has an important effect on blood pressure, arterial wall, and the basal release of endothelial NO in hypertension (HPN) may be reduced. Until now, there is no solid data revealing the potential role of the polymorphism of the nitric oxide synthase gene (NOS) in patients with HPN and microvascular angina. Aim: The aim of the present study is to investigate the gene of endothelial nitric oxide synthase (eNOS), as the polymorphism of this gene may be a putative candidate for HPN and initiate the process of atherosclerosis. Methods: Sixty participants were recruited for this study; 50 were hypertensive patients complaining of chest pain [30 of them have electrocardiogram (EKG) changes of ischemia], 20 had isolated HPN, and 10 healthy volunteers served as control. All patients underwent stress myocardial perfusion imaging (MPI) and coronary angiography. Genotyping of eNOS for all patients and controls was performed. The linkages between HPN, microvascular angina and eNOS gene polymorphism were investigated. Results: MPI and coronary angiography revealed that 15 patients had chest pain with true ischemia and reversible myocardial perfusion defects (multiple and mild) but normal epicardial coronary arteries (microvascular angina), while 15 patients had significant coronary artery disease (CAD), and 20 hypertensive patients showed normal perfusion scan and coronary angiography. The prevalence of the NOS G 298 allele was higher in the hypertensive group with microvascular angina (documented by MPI) than it was among the control participants (P<.005). The eNOS allele was significantly higher in the hypertensive group than in the control participants, but there was no significant difference in homozygote mutants among hypertensive participants, x-syndrome and patients with CAD. Conclusion: eNOS gene polymorphism is proved to be an important etiology in microvascular angina (x-syndrome) among hypertensive patients. In addition, the eNOS mutant

  19. Pattern of distribution of blood group antigens on human epidermal cells during maturation

    DEFF Research Database (Denmark)

    Dabelsteen, Erik; Buschard, Karsten; Hakomori, Sen-Itiroh

    1984-01-01

    The distribution in human epidermis of A, B, and H blood group antigens and of a precursor carbohydrate chain, N-acetyl-lactosamine, was examined using immunofluorescence staining techniques. The material included tissue from 10 blood group A, 4 blood group B, and 9 blood group O persons. Murine...... on the lower spinous cells whereas H antigen was seen predominantly on upper spinous cells or on the granular cells. Epithelia from blood group A or B persons demonstrated A or B antigens, respectively, but only if the tissue sections were trypsinized before staining. In such cases A or B antigens were found...... monoclonal antibodies were used to identify H antigen (type 2 chain) and N-acetyl-lactosamine. Human antisera were used to identify A and B antigens. In all groups N-acetyl-lactosamine and H antigen were found on the cell membranes of the spinous cell layer. N-acetyl-lactosamine was present mainly...

  20. Is there an association of ABO blood groups and Rhesus factor with alopecia areata?

    Science.gov (United States)

    İslamoğlu, Zeynep Gizem Kaya; Unal, Mehmet

    2018-01-15

    Alopecia areata (AA) is an autoimmune disease characterized by noncicatricial hair loss localized on hair, beard, mustache, eyebrow, eyelash, and sometimes on the body. Although etiopathogenesis is not fully understood, many studies show remarkable associations between various diseases and ABO blood groups. However, there is no study with AA and blood groups. Healthy people and patients with AA were included in this study. A total of 155 patients with AA and 299 healthy controls were included in the study. ABO blood group distribution in patients with AA and distribution of healthy donors were similar. However, Rhesus factor positivity in the AA group was significantly higher than in healthy donors. The relationship between stress and AA was high as known. But, ABO blood group and Rhesus factor were not in a significant connection with stress. We conclude that there was no association between ABO blood group and AA, but the observed distribution of Rhesus blood group differed slightly but significantly from that of the healthy population. The result of the study shows a small but statistically significant difference in the Rh blood group between patients with AA and the healthy population blood groups. This result is important because it suggests that genetic factors may influence the development of AA. The role of blood groups in the development of AA remains to be determined. We believe that the studies which will be carried out in other centers with wider series will be more valuable to support this hypothesis. © 2018 Wiley Periodicals, Inc.

  1. An international investigation into O red blood cell unit administration in hospitals: the GRoup O Utilization Patterns (GROUP) study.

    Science.gov (United States)

    Zeller, Michelle P; Barty, Rebecca; Aandahl, Astrid; Apelseth, Torunn O; Callum, Jeannie; Dunbar, Nancy M; Elahie, Allahna; Garritsen, Henk; Hancock, Helen; Kutner, José Mauro; Manukian, Belinda; Mizuta, Shuichi; Okuda, Makoto; Pagano, Monica B; Pogłód, Ryszard; Rushford, Kylie; Selleng, Kathleen; Sørensen, Claess Henning; Sprogøe, Ulrik; Staves, Julie; Weiland, Thorsten; Wendel, Silvano; Wood, Erica M; van de Watering, Leo; van Wordragen-Vlaswinkel, Maria; Ziman, Alyssa; Jan Zwaginga, Jaap; Murphy, Michael F; Heddle, Nancy M; Yazer, Mark H

    2017-10-01

    Transfusion of group O blood to non-O recipients, or transfusion of D- blood to D+ recipients, can result in shortages of group O or D- blood, respectively. This study investigated RBC utilization patterns at hospitals around the world and explored the context and policies that guide ABO blood group and D type selection practices. This was a retrospective study on transfusion data from the 2013 calendar year. This study included a survey component that asked about hospital RBC selection and transfusion practices and a data collection component where participants submitted information on RBC unit disposition including blood group and D type of unit and recipient. Units administered to recipients of unknown ABO or D group were excluded. Thirty-eight hospitals in 11 countries responded to the survey, 30 of which provided specific RBC unit disposition data. Overall, 11.1% (21,235/191,397) of group O units were transfused to non-O recipients; 22.6% (8777/38,911) of group O D- RBC units were transfused to O D+ recipients, and 43.2% (16,800/38,911) of group O D- RBC units were transfused to recipients that were not group O D-. Disposition of units and hospital transfusion policy varied within and across hospitals of different sizes, with transfusion of group O D- units to non-group O D- patients ranging from 0% to 33%. A significant proportion of group O and D- RBC units were transfused to compatible, nonidentical recipients, although the frequency of this practice varied across sites. © 2017 AABB.

  2. 21 CFR 864.9160 - Blood group substances of nonhuman origin for in vitro diagnostic use.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Blood group substances of nonhuman origin for in... Used In Establishments That Manufacture Blood and Blood Products § 864.9160 Blood group substances of nonhuman origin for in vitro diagnostic use. (a) Identification. Blood group substances of nonhuman origin...

  3. The role of blood groups in the development of diabetes mellitus after gestational diabetes mellitus.

    Science.gov (United States)

    Karagoz, Hatice; Erden, Abdulsamet; Ozer, Ozerhan; Esmeray, Kubra; Cetinkaya, Ali; Avci, Deniz; Karahan, Samet; Basak, Mustafa; Bulut, Kadir; Mutlu, Hasan; Simsek, Yasin

    2015-01-01

    Gestational diabetes mellitus (GDM) is a common condition that is defined as glucose intolerance of varying degree with onset or first recognition during pregnancy and it affects approximately 5% of all pregnancies all over the world. GDM is not only associated with adverse pregnancy outcomes such as macrosomia, dystocia, birth trauma, and metabolic complications in newborns, but it is also a strong predictor of transitioning to overt DM postpartum. The association of ABO blood groups with DM has been observed before in several epidemiological and genetic studies and resulted with inconsistent findings, but still there are not enough studies in the literature about the association of ABO blood groups with GDM. In this study, we aimed at investigating any possible relationship between the ABO blood group system and GDM and also the transitioning of GDM to overt DM postpartum, in Turkey. A total of 233 patients with GDM from Kayseri Training and Research Hospital between 2002 and 2012 were included in the study. The cases that have serologically determined blood groups and Rh factor in the hospital records were included in the study, and the patients with unknown blood groups were excluded. Patients were classified according to blood groups (A, B, AB, and O) and Rh status (+/-). GDM was diagnosed based on the glucose cut-points of the International Association of the Diabetes and Pregnancy Society Groups. The distributions of blood groups of the patients with GDM were compared with the distribution of blood groups of 17,314 healthy donors who were admitted to the Turkish Red Crescent Blood Service in our city in 2012. There was a significant difference between the patients with GDM and control group in terms of distribution of ABO blood groups. Blood group AB was found to be higher in the patients with GDM compared to the control group (P=0.029). When the patients were compared according to the development of DM, the ratio of group O was higher than others, while the

  4. Report of the third international workshop on molecular blood group genotyping

    NARCIS (Netherlands)

    Daniels, G.; van der Schoot, C. E.; Gassner, C.; Olsson, M. L.

    2009-01-01

    The Third International Society of Blood Transfusion Workshop on Molecular Blood Group Genotyping was held in 2008, with a feedback meeting at the International Society of Blood Transfusion Congress in Macao SAR, China. Thirty-three laboratories participated, eight less than in 2006. Six samples

  5. Prevalance of ABO and Rhesus Blood Groups in Blood Donors: A Study from a Tertiary Care Teaching Hospital of Kumaon Region of Uttarakhand.

    Science.gov (United States)

    Garg, Parul; Upadhyay, Saloni; Chufal, Sanjay Singh; Hasan, Yuman; Tayal, Ishwer

    2014-12-01

    Backround: ABO and Rhesus (Rh) blood group antigens are hereditary characters and are useful in population genetic studies, in resolving medico-legal issues and more importantly for the immunologic safety of blood during transfusion. This study is aimed to determine the distribution pattern of the ABO and Rh blood groups among blood donors in Kumaon region of Uttarakhand and compare it with other data from similar studies within the India and all over the world. It is a retrospective study carried out at blood bank of Shushila Tewari Hospital of Government Medical College, Haldwani from January 2012 to December 2013. The study was conducted on 12,701 blood donors. ABO and Rh typing was done using slide agglutination method with antisera ABO and Rh (Tulip diagnostics ltd). Doubtful cases were confirmed by tube agglutination method and reverse grouping using known pooled A and B cells. The age group and sex of donors, frequency of ABO and Rh blood groups were reported in simple percentages. The predominant donors belonged to age group between 18-35years (84.28%). Male donors were more than female donors, ratio being 352:1. Replacement donors (99.71%) were much more than voluntary donors (0.91%). The most common blood group was B (32.07%) and least common being AB (10.53%). Blood group 'O' and 'A' had same frequency. The prevalence of Rhesus positive and negative distribution in the studied population was 94.49% and 5.51% respectively. Blood group frequency with respect to ABO and Rhesus positive was found to be shown by formula B> O>A >AB. The frequency for ABO and Rhesus negative was given by the formula B>A>O>AB. Knowledge of frequencies of the different blood groups is very important for blood banks and transfusion service policies that could contribute significantly to the National Health System.

  6. ABO Blood Group Genotyping by Real-time PCR in Kazakh Population

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    Pavel Tarlykov

    2014-12-01

    Full Text Available Introduction. ABO blood group genotyping is a new technology in hematology that helps prevent adverse transfusion reactions in patients. Identification of antigens on the surface of red blood cells is based on serology; however, genotyping employs a different strategy and is aimed directly at genes that determine the surface proteins. ABO blood group genotyping by real-time PCR has several crucial advantages over other PCR-based techniques, such as high rapidity and reliability of analysis. The purpose of this study was to examine nucleotide substitutions differences by blood types using a PCR-based method on Kazakh blood donors.Methods. The study was approved by the Ethics Committee of the National Center for Biotechnology. Venous blood samples from 369 healthy Kazakh blood donors, whose blood types had been determined by serological methods, were collected after obtaining informed consent. The phenotypes of the samples included blood group A (n = 99, B (n = 93, O (n = 132, and AB (n = 45. Genomic DNA was extracted using a salting-out method. PCR products of ABO gene were sequenced on an ABI 3730xl DNA analyzer (Applied Biosystems. The resulting nucleotide sequences were compared and aligned against reference sequence NM_020469.2. Real-time PCR analysis was performed on CFX96 Touch™ Real-Time PCR Detection System (BioRad.Results. Direct sequencing of ABO gene in 369 samples revealed that the vast majority of nucleotide substitutions that change the ABO phenotype were limited to exons 6 and 7 of the ABO gene at positions 261, 467, 657, 796, 803, 930 and 1,060. However, genotyping of only three of them (261, 796 and 803 resulted in identification of major ABO genotypes in the Kazakh population. As a result, TaqMan probe based real-time PCR assay for the specific detection of genotypes 261, 796 and 803 was developed. The assay did not take into account several other mutations that may affect the determination of blood group, because they have a

  7. Allele coding in genomic evaluation

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    Christensen Ole F

    2011-06-01

    Full Text Available Abstract Background Genomic data are used in animal breeding to assist genetic evaluation. Several models to estimate genomic breeding values have been studied. In general, two approaches have been used. One approach estimates the marker effects first and then, genomic breeding values are obtained by summing marker effects. In the second approach, genomic breeding values are estimated directly using an equivalent model with a genomic relationship matrix. Allele coding is the method chosen to assign values to the regression coefficients in the statistical model. A common allele coding is zero for the homozygous genotype of the first allele, one for the heterozygote, and two for the homozygous genotype for the other allele. Another common allele coding changes these regression coefficients by subtracting a value from each marker such that the mean of regression coefficients is zero within each marker. We call this centered allele coding. This study considered effects of different allele coding methods on inference. Both marker-based and equivalent models were considered, and restricted maximum likelihood and Bayesian methods were used in inference. Results Theoretical derivations showed that parameter estimates and estimated marker effects in marker-based models are the same irrespective of the allele coding, provided that the model has a fixed general mean. For the equivalent models, the same results hold, even though different allele coding methods lead to different genomic relationship matrices. Calculated genomic breeding values are independent of allele coding when the estimate of the general mean is included into the values. Reliabilities of estimated genomic breeding values calculated using elements of the inverse of the coefficient matrix depend on the allele coding because different allele coding methods imply different models. Finally, allele coding affects the mixing of Markov chain Monte Carlo algorithms, with the centered coding being

  8. Frequency of ABO blood groups and RhD factor in the female population of District Peshawar.

    Science.gov (United States)

    Nazli, Rubina; Haider, Jamila; Khan, Mohammad Akmal; Akhtar, Tasleem; Aslam, Hina

    2015-01-01

    To determine the frequency of ABO blood group and Rhesus (Rh) D antigen in the females of "District" Peshawar, Khyber Pakhtunkhwa Province, Pakistan. This cross-sectional study was conducted on 429 women having pregnancy induced hypertension, admitted in the three teaching hospitals of Peshawar, over a period of one year. Blood sample was collected from each subject after taking informed consent. The antigen antibody agglutination slide test for "blood grouping (ABO)" and RhD factors was done by using IgM and IgG monoclonal reagents. The antisera used were from Biolaboratory, USA. Data was analyzed for percentage calculation. The blood group distribution was 134 (31.2%), 43 (10.1%), 116 (27%), 136 (31.7%) for blood groups A, AB, O and B, respectively. Subjects having blood group B was slightly more dominant, followed by A and O, while blood group AB was rare in these females. Blood group A Rh negative is more in female 12 (37.5%) followed by group O 10 (31.3%), group B 09 (28.1%) and group AB 01 (3.1%). Frequency of "Rh-positive blood group" is B, A, O and AB, whereas the frequency of the most common Rh-negative blood group are A, O, B and AB respectively. The determination of the frequency of blood groups in the region would not only help in blood transfusion services, but also reduce the risk of erythroblastosis foetalis in the neonates.

  9. Human leukocyte antigen class II susceptibility conferring alleles among non-insulin dependent diabetes mellitus patients

    International Nuclear Information System (INIS)

    Tipu, H.N.; Ahmed, T.A.; Bashir, M.M.

    2010-01-01

    To determine the frequency of Human Leukocyte Antigen (HLA) class II susceptibility conferring alleles among type 2 Diabetes mellitus patients, in comparison with healthy controls. Cross-sectional comparative study. Patients with non-insulin dependent Diabetes mellitus meeting World Health Organization criteria were studied. These were compared with age and gender matched healthy control subjects. For each subject (patients as well as controls), DNA was extracted from ethylene diamine tetra-acetate sample and HLA class II DRB1 typing was carried out at allele group level (DRB1*01-DRB1*16) by sequence specific primers. Human leukocyte antigen DRB1 type was determined by agarose gel electrophoresis and results were recorded. Frequencies were determined as number of an allele divided by total number of alleles per group; p-value was computed using Pearson's chi-square test. Among the 100 patients, there were 63 males and 37 females with 68 controls. A total of 13 different HLA DRB1 alleles were detected, with DRB1*15 being the commonest in both the groups. The allele DRB1*13 had statistically significant higher frequency in patient group as compared to controls (p 0.005). HLA DRB1*13 was found with a significantly increased frequency in non-insulin dependent Diabetes mellitus. (author)

  10. The role of blood groups in the development of diabetes mellitus after gestational diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Karagoz H

    2015-10-01

    Full Text Available Hatice Karagoz,1 Abdulsamet Erden,2 Ozerhan Ozer,2 Kubra Esmeray,2 Ali Cetinkaya,2 Deniz Avci,2 Samet Karahan,2 Mustafa Basak,2 Kadir Bulut,2 Hasan Mutlu,3 Yasin Simsek4 1Internal Medicine Department, Acibadem Kayseri Hospital, 2Internal Medicine Department, 3Medical Oncology Department, 4Endocrinology Department, Kayseri Training and Research Hospital, Kayseri, Turkey Introduction: Gestational diabetes mellitus (GDM is a common condition that is defined as glucose intolerance of varying degree with onset or first recognition during pregnancy and it affects approximately 5% of all pregnancies all over the world. GDM is not only associated with adverse pregnancy outcomes such as macrosomia, dystocia, birth trauma, and metabolic complications in newborns, but it is also a strong predictor of transitioning to overt DM postpartum. The association of ABO blood groups with DM has been observed before in several epidemiological and genetic studies and resulted with inconsistent findings, but still there are not enough studies in the literature about the association of ABO blood groups with GDM. In this study, we aimed at investigating any possible relationship between the ABO blood group system and GDM and also the transitioning of GDM to overt DM postpartum, in Turkey.Patients and methods: A total of 233 patients with GDM from Kayseri Training and Research Hospital between 2002 and 2012 were included in the study. The cases that have serologically determined blood groups and Rh factor in the hospital records were included in the study, and the patients with unknown blood groups were excluded. Patients were classified according to blood groups (A, B, AB, and O and Rh status (+/-. GDM was diagnosed based on the glucose cut-points of the International Association of the Diabetes and Pregnancy Society Groups. The distributions of blood groups of the patients with GDM were compared with the distribution of blood groups of 17,314 healthy donors who were

  11. Origin of allelic diversity in antirrhinum S locus RNases.

    Science.gov (United States)

    Xue, Y; Carpenter, R; Dickinson, H G; Coen, E S

    1996-01-01

    In many plant species, self-incompatibility (SI) is genetically controlled by a single multiallelic S locus. Previous analysis of S alleles in the Solanaceae, in which S locus ribonucleases (S RNases) are responsible for stylar expression of SI, has demonstrated that allelic diversity predated speciation within this family. To understand how allelic diversity has evolved, we investigated the molecular basis of gametophytic SI in Antirrhinum, a member of the Scrophulariaceae, which is closely related to the Solanaceae. We have characterized three Antirrhinum cDNAs encoding polypeptides homologous to S RNases and shown that they are encoded by genes at the S locus. RNA in situ hybridization revealed that the Antirrhinum S RNase are primarily expressed in the stylar transmitting tissue. This expression is consistent with their proposed role in arresting the growth of self-pollen tubes. S alleles from the Scrophulariaceae form a separate group from those of the Solanaceae, indicating that new S alleles have been generated since these families separated (approximately 40 million years). We propose that the recruitment of an ancestral RNase gene into SI occurred during an early stage of angiosperm evolution and that, since that time, new alleles subsequently have arisen at a low rate. PMID:8672882

  12. ABO Blood Group and Endometrial Carcinoma: A Preliminary Single-Center Experience from Saudi Arabia.

    Science.gov (United States)

    Abu-Zaid, Ahmed; Alsabban, Mohannad; Abuzaid, Mohammed; Alomar, Osama; Al-Badawi, Ismail A; Salem, Hany

    2017-12-18

    Inherited ABO blood groups have been shown to play possible contributions in the pathogenesis of various gynecologic and non-gynecologic carcinomas. With regard to gynecologic carcinomas, there is a confined number of studies that explored the relationship between ABO blood group and endometrial carcinoma (EC) in the PubMed-indexed literature. To the best of our knowledge, no such study has ever been conducted in Saudi Arabia. Our study has two objectives: (I) to determine the prevalence of ABO blood groups among Saudi patients with EC, and (II) to explore the relationship between ABO blood group and several clinico-pathological prognostic parameters (namely: menopausal status [age], body mass index [BMI], tumor grade, FIGO [Fédération Internationale de Gynécologie et d'Obstétrique] stage and recurrence) in Saudi patients with EC. A retrospective cross-sectional study from 01-January-2010 to 31-July-2014 was conducted at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia - a referral tertiary healthcare institute. One-hundred and fourteen patients (n=114) were included in the study. Clinico-pathological data were extrapolated from medical records, and their association with ABO blood groups were evaluated. Categorical data were presented as number of cases (n) and percentages (%). Two-tailed Chi-square test was used for univariate analysis. For all purposes, p values 28 kg/m 2 (84.2%), diagnosed with early FIGO stage I-II (76.3%) and developed no recurrence (86.8%). The frequencies of ABO blood group types A, B, AB, and O were 28.1%, 12.3%, 3.5% and 56.1%, respectively. When ABO blood groups were analyzed as four different types (A, B, AB and O), O-type was the most common ABO blood group in pre- and post-menopausal EC patients (43.8% and 58.2%, respectively; p=0.14). There were no statistically significant correlations between ABO blood groups and all the examined clinico-pathological factors. Moreover, when ABO blood groups were

  13. Routine preoperative blood group and save testing is unnecessary for elective laparoscopic cholecystectomy

    International Nuclear Information System (INIS)

    Tandon, A.; Shahzad, K.; Nunes, Q.; Shrotri, M.; Lunevicius, R.

    2017-01-01

    Background: Although the practice of preoperative testing of ABO group and Rh (D) type for elective cholecystectomy has deep historical roots, it is not evidence-based. We aimed to assess the preoperative blood group and save testing practice for a cohort of patients subjected to elective laparoscopic cholecystectomy for symptomatic cholecystolithiasis between January 2010 and October 2014. Methods: National Health Service (NHS) hospital based, surgical procedure-specific, retrospective study was conducted. A final group consisted of 2,079 adult patients. We estimated the incidence of perioperative blood transfusion attributable to laparoscopic cholecystectomy. The results of eight other studies are presented. Results: A preoperative blood group and save test was performed in 907 patients (43.6%), whereas cross-matching was documented in 28 patients (3.1%). None required an intraoperative blood transfusion. Twelve patients (0.58%) underwent blood transfusion postoperatively following laparoscopic cholecystectomy, of which ten were transfused due to severe intra-abdominal bleeding (0.48%). There were no deaths. Conclusions: The likelihood of blood transfusion attributable to elective laparoscopic cholecystectomy is 1:200. A routine preoperative blood group and save testing is unnecessary. It neither alters the management of severe hypovolemia, secondary to perioperative bleeding, nor does it lead to better outcomes. (author)

  14. High circulating osteoprotegerin levels are associated with non-zero blood groups.

    Science.gov (United States)

    Nagy, Elod Erno; Varga-Fekete, Timea; Puskas, Attila; Kelemen, Piroska; Brassai, Zoltan; Szekeres-Csiki, Katalin; Gombos, Timea; Csanyi, Maria Csilla; Harsfalvi, Jolan

    2016-05-26

    Osteoprotegerin (OPG) and von Willebrand factor (VWF) form complex within endothelial cells and following secretion. The nature of blood group antigens strongly influences the levels of circulating VWF, but there is no available data concerning its ascendancy on OPG levels. We aimed to assess the relationship of AB0 blood groups with OPG, VWF levels (VWF: Ag) and collagen binding activity (VWF: CB) in peripheral arterial disease (PAD) patients. Functional and laboratory parameters of 105 PAD patients and 109 controls were examined. Results of OPG, VWF: Ag, VWF: CB (ELISA-s) were analysed by comparative statistics, together with clinical data. OPG levels were higher in patients than in controls (4.64 ng/mL vs. 3.68 ng/mL, p blood groups compared to 0-groups both in patients and controls (4.95 ng/mL vs. 3.90 ng/mL, p = 0.012 and 4.09 ng/mL vs. 3.40 ng/mL, p = 0.002). OPG levels are associated to blood group phenotypes and higher in non-0 individuals. Increased OPG levels in PAD characterize disease severity. The significant correlation between OPG and VWF:CB might have functional importance in an atherothrombosis-prone biological environment.

  15. ABO/Rh Blood Groups and Risk of HIV Infection and Hepatitis B Among Blood Donors of Abidjan, Côte D'ivoire.

    Science.gov (United States)

    Siransy, Liliane Kouabla; Nanga, Zizendorf Yves; Zaba, Flore Sandrine; Tufa, Nyasenu Yawo; Dasse, Sery Romuald

    2015-09-01

    Hepatitis B and HIV infection are two viral infections that represent real global public health problems. In order to improve their management, some hypotheses suggest that genetic predispositions like ABO and Rh blood groups would influence the occurrence of these diseases. The aim of the present study was to examine the association between ABO and Rhesus blood groups and the susceptibility to HIV infection and hepatitis B. We conducted a cross-sectional and analytical study in a population of voluntary blood donors in the Blood Transfusion Center of Abidjan. All blood donors who donated blood between January and June 2014 were tested for HBs antigen and anti-HIV antibodies (ELISA tests) and were ABO typed. The total number of examined blood donors during this period was 45,538, of which 0.32% and 8.07% were respectively infected with HIV and hepatitis B virus. O-group donors were more infected than non-O donors. Our study is an outline concerning the search for a link between ABO and Rh blood groups and hepatitis B and HIV infection. Further studies should be conducted to confirm the interaction between these two infections and contribute to the search for new therapeutic approaches.

  16. Distribution of ABO blood groups and rhesus factor in a Large Scale ...

    African Journals Online (AJOL)

    Background: The demand for blood and blood products has increased due to advances in medical science, population growth and increased life expectancy. This has increased the need for various blood groups in Khuzestan province because of the higher incidence of thalassemia and other blood transfusion dependent ...

  17. Histopathological Study of Central Nervous System Lesions: Emphasizing Association of Neoplasms with ABO Blood Groups.

    Science.gov (United States)

    Kumarguru, B N; Pallavi, P; Sunila; Manjunath, G V; Vasan, T S; Rajalakshmi, B R

    2017-04-01

    The Central Nervous System (CNS) lesions show considerable geographic and racial variations with respect to the incidence and the pattern of distribution of lesions. The ABO blood status is a readily accessible factor in genetic constitution of the patients. It has been shown to be associated with many diseases. But the influence of blood group status on the pathogenesis of brain tumours is still unclear. To study various histopathological patterns of CNS lesions and to evaluate the association of CNS tumours with the distribution of ABO blood groups in documented cases. In the present study, 147 cases were analyzed. It was an analytical type of study, done at JSS Medical College, Mysore, over a period of 2 years and 8 months from January 2009 to August 2011. Histopathology slides were routinely stained by Haematoxylin and Eosin (H&E) stain. Special stains were performed in selected cases. Blood group of the patients and the control group were documented. Blood group distribution pattern was assessed in relation to histopathological diagnosis of various CNS tumours. Histopathological diagnosis of 147 cases included neoplastic lesions (84.35%) and non-neoplastic lesions (15.64%). Neoplastic lesions (84.35%) constituted the majority, which included neuroepithelial tumours (29.25%) as predominant pattern. Non-neoplastic lesions constituted only 15.64%, which included inflammatory lesion (8.16%) as the predominant pattern. ABO blood group data was available in 92 cases (84.4%) of neoplastic lesions, which included 71 cases (48.29%) of primary CNS neoplasms categorized according to WHO grades. The control group constituted 21,067 healthy voluntary donors. Blood group O was the most frequent blood group in neoplastic lesions (40.21%) and primary CNS neoplasms categorized according to WHO grades (45.07%). The association between the CNS neoplasms and ABO blood groups was not statistically significant (p = 0.055). But a definite change in the pattern of distribution of ABO

  18. Comparison of allele frequency for HLA-DR and HLA-DQ between patients with ECC and caries-free children

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    Bagherian A

    2008-03-01

    Full Text Available Background: Early childhood caries (ECC is one of the most common diseases of childhood. The etiology of ECC is multifactorial and both genetic and environmental factors play important roles in the pathogenesis of the disease. Genetic variations in the hosts may contribute to changes in the risk for dental caries. Genetic factors such as human leukocyte antigen (HLA have recently been suggested as a predisposing factor. Aim: The aim of this study was to look for an association between HLA-DRB1 and HLA-DQB1 with ECC for developing new strategies for the diagnosis as well as the prevention of the disease. Design: In this study, we extracted the genomic DNAs from whole blood samples of 44 patients with ECC and 35 caries-free children by the salting-out method. We amplified the genomic DNA by PCR-SSP and then HLA-typing was performed for all alleles. Results: The results revealed a significant increase in the frequency of HLA-DRB1FNx0104 in the patient group (P = 0.019. The odds ratio for this allele was detected to be 10. The frequency of HLA-DQB1 alleles was not significantly different between the two groups. Conclusion: The above results suggest that HLA-DRB1FNx0104 is associated with the susceptibility to ECC. Thus HLA-DRB1FNx0104 detection as a molecular marker for early diagnosis of ECC may be recommended.

  19. Association of ABO blood groups with diabetes mellitus

    African Journals Online (AJOL)

    2010-02-08

    Feb 8, 2010 ... We studied the association of ABO blood groups with DM type 2. Patients and methodology: It was ... dent diabetes mellitus (NIDDM or type 2), characterized by elevated insulin levels ... diabetic ketoacidosis. Sample size was ...

  20. The Royan Public Umbilical Cord Blood Bank: Does It Cover All Ethnic Groups in Iran Based on HLA Diversity?

    Science.gov (United States)

    Ebrahimkhani, Saeideh; Farjadian, Shirin; Ebrahimi, Marzieh

    2014-04-01

    Umbilical cord blood (UCB) stem cells allow the transplantation of partially human leukocyte antigen (HLA)-matched grafts and are a valuable resource for the treatment of hematologic malignancies and heritable hematologic, immunologic and metabolic diseases, especially when a compatible bone marrow donor is unavailable. The aim of this study was to determine how many ethnic groups in Iran are covered by the available UCB units based on HLA diversity. From 2009 until mid-2013, 4,981 (30.3%) of the 16,437 UCB samples collected met the storage criteria and were cryopreserved at a public cord blood bank (CBB) in Tehran, Iran. HLA-A, -B and -DRB1 were typed in 1,793 samples. The mean volume of the cryopreserved samples was 81.25 ± 20.3 ml. The range of total nucleated cells per unit was 51 × 10(7)-107 × 10(7). The most common HLA alleles were HLA-A*2 (17%) and HLA-A*24 (15.6%), HLA-B*35 (16.8%) and HLA-B*51 (13.9%), and HLA-DRB1*11 (20%) and HLA-DRB1*15 (14%). The predominant haplotypes were HLA-A*24-B*35-DRB1*11 (2%), HLA-A*02-B*50-DR*07 (1.8%), and HLA-A*02-B*51-DRB1*11 (1.5%). Based on the HLA-DRB1 profiles, the UCB units available at the Royan public UCB bank are a potentially adequate resource for hematopoietic stem cell transplantation for Iranian recipients belonging to particular ethnic groups. Regular educational programs to improve the public knowledge of UCB for transplantation can enhance the public CBB stocks for all Iranian ethnic groups in the future.

  1. Distribution of ABO and Rh-D blood groups in the Benin area of Niger-Delta: Implication for regional blood transfusion

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    Enosolease Mathew

    2008-01-01

    Full Text Available ABO and Rhesus (Rh blood group antigens are hereditary characters and are useful in population genetic studies, in resolving medico-legal issues and more importantly in compatibility test in blood transfusion practice. Data on frequency distribution of ABO and Rh-D in Niger-Delta region of Nigeria are not available; hence we made an attempt to retrospectively analyze the records on the blood donors, transfusion recipients and patients attending antenatal care or some other medical interventions. Over a twenty-year period between 1986 and 2005, a total of 160,431 blood samples were grouped for ABO and Rh-D at the blood bank of the University of Benin Teaching Hospital, Benin City, Nigeria. Blood group distribution among these samples showed phenotypes A, B, AB and O as 23.72%, 20.09%, 2.97% and 53.22%, respectively. The Rh-D negative phenotype was found among 6.01% of the samples tested.

  2. The Association between ABO and Rh Blood Groups and Risk of Endometriosis in Iranian Women.

    Science.gov (United States)

    Malekzadeh, Farideh; Moini, Ashraf; Amirchaghmaghi, Elham; Daliri, Leila; Akhoond, Mohammad Reza; Talebi, Mehrak; Hosseini, Rihaneh

    2018-06-01

    Endometriosis is a common gynaecological disease that affects quality of life for women. Several studies have revealed that both environmental and genetic factors contribute to the development of endometriosis. The aim of this study was to investigate the distribution of ABO and Rh blood groups in Iranian women with endometriosis who presented to two referral infertility centers in Tehran, Iran. In this case-control study, women who referred to Royan Institute and Arash Women's Hospital for diagnostic laparoscopy between 2013 and 2014 were assessed. Based on the laparoscopy findings, we categorized the women into two groups: endometriosis and control (women without endometriosis and normal pelvis). Chi-square and logistic regression tests were used for data analysis. In this study, we assessed 433 women, of which 213 patients were assigned to the endometriosis group while the remaining 220 subjects comprised the control group. The most frequent ABO blood group was O (40.6%). The least frequent blood group was AB (4.8%). In terms of Rh blood group, Rh+ (90.1%) was more frequent than Rh- (9.9%). There was no significant correlation between ABO (P=0.091) and Rh (P=0.55) blood groups and risk of endometriosis. Also, there was no significant difference between the two groups with regards to the stage of endometriosis and distribution of ABO and Rh blood groups (P>0.05). Although the O blood group was less dominant in Iranian women with endometriosis, we observed no significant correlation between the risk of endometriosis and the ABO and Rh blood groups. Endometriosis severity was not correlated to any of these blood groups. Copyright© by Royan Institute. All rights reserved.

  3. ABO blood grouping: A potential risk factor for early childhood caries - A cross-sectional study.

    Science.gov (United States)

    Govindaraju, Lavanya; Jeevanandan, Ganesh; Subramanian, E M G

    2018-01-01

    The paradigm of etiology of early childhood caries (ECC) is shifting toward genetics. Of various inherited factors, blood group of an individual is genetically determined. The aim of the study is to determine if blood group of an individual will serve as a potential risk factor in the development of ECC. A cross-sectional study was conducted in Chennai. Blood samples were collected from a total of 500 children age for determination of the blood group. Of which 96 children (24 per blood group) were randomly selected and were included in the study. Oral screening of the selected children was done by a pediatric dentist who was blinded to the blood group of the children. Decayed, extracted, and filling index was noted. Details on other associated factors for the development of ECC such as the socioeconomic status, oral hygiene measures, diet, and feeding practices were collected by directly interviewing the parents through a questionnaire. Statistical analysis was done using Chi-square and Kruskal-Wallis test and post hoc Tukey test with significance level set at 0.05. Intergroup analysis of the associated factors showed no significant differences between the children of different blood groups. A statistically significant relation was noted between the blood groups and development of ECC (P = 0.025). Blood group is a potential risk indicator for the development of ECC.

  4. The effect of alcoholism on secretor status of blood groups A and B ...

    African Journals Online (AJOL)

    One hundred and fifty were alcoholics and one hundred and fifty non-alcoholics served as controls. In the alcoholic group, seventy five were blood group B while seventy five were blood group A. Fifty out of the seventy five (67%) group A alcoholics were secretors, while 25 (33%) were non-secretors. Fourty two out of the ...

  5. Human leukocyte antigen-A, -B, and -DRB1 haplotypes of cord blood units in the Tzu Chi Taiwan Cord Blood Bank.

    Science.gov (United States)

    Wen, Shu-Hui; Lai, Meng-Jiun; Yang, Kuo-Liang

    2008-07-01

    Cord blood (CB) is considered an alternative resource to bone marrow and peripheral blood stem cells (PBSC) for allogeneic stem cell transplantation. In this study, human leukocyte antigen (HLA)-A, -B, and -DRB1 high-resolution allele types were analyzed from a total of 710 CB units in the Tzu Chi Taiwan Cord Blood Bank. We observed 21 HLA-A alleles, 59 HLA-B alleles, and 28 HLA-DRB1 alleles, whereas 19 unique alleles were present in the CB units of 2,023 individuals selected for confirmatory testing in the Tzu Chi Taiwan Marrow Donor Registry (TCTMDR). The allelic associations between the HLA-A and -B locus were stronger than that of either the HLA-B and -DRB1 loci or the HLA-A and -DRB1 loci. The most common haplotype of CB units in the general Taiwanese population was A*3303-B*5801-DRB1*0301 (6.59%), followed by A*0207-B*4601-DRB1*0901 (3.47%) and then A*1101-B*4001-DRB1*0901 (2.11%). Moreover, two haplotypes, A*2402-B*5201-DRB1*1502 and A*0201-B*1301-DRB1*1202, existed uniquely in the CB units but were not observed in the data of TCTMDR. Although the number of CB units studied for high-resolution of HLA typing in the current study is small, we believe our data should provide useful information to increase the chances of obtaining acceptable HLA-A-, -B-, and -DRB1-matched CB units for patients.

  6. Non-association between anti-Toxoplasma gondii antibodies and ABO blood group system

    Directory of Open Access Journals (Sweden)

    ACF Rodrigues

    2011-01-01

    Full Text Available Toxoplasma gondii infects humans through the gastrointestinal tract (GIT, which elicits humoral immune response with specific antibodies. The expression of the ABO blood group glycoconjugates also occurs in this same system and may influence the human susceptibility of infection by T. gondii. The aim of the present study was to investigate the association between ABO blood group phenotypes and the presence of anti-T. gondii antibodies. Data - including age, results of serology tests for T. gondii infection and ABO blood group phenotypes - were assembled from the medical records of 1,006 pregnant women attended in the Base Hospital of the Medical School of São José do Rio Preto, Brazil, between 2001 and 2004. The chi-square test was used to compare the results with the level of significance set at 5%. Of the studied cases, 64.1% (645/1006 and 35.9% (391/1006 presented respectively positive and negative serology tests for anti-T. gondii antibodies. The mean age of those who tested positive was higher than those with negative serology tests (p = 0.0004. The frequencies of ABO blood group phenotypes were similar in those with and without anti-T. gondii antibodies (p = 0.35. In conclusion, the ABO blood group system is not associated with the presence or absence of anti-T. gondii antibodies.

  7. ABO blood group and risk of pancreatic cancer in a Turkish population in Western Blacksea region.

    Science.gov (United States)

    Engin, Huseyin; Bilir, Cemil; Üstün, Hasan; Gökmen, Ayla

    2012-01-01

    We aimed to investigate the relationship between blood groups and pancreatic cancer in a Turkish population in Western Blacksea region. This is a retrospective study. Zonguldak Karaelmas University outpatient oncology clinic records were screened for the period between 2004 and 2011. The median age of patients were 56 (± 16) and 132 of 633 study population had pancreatic cancer. Pancreatic cancer patients had significantly higher rates of blood group A compared to controls (OR 1.8, 95%CI, p 0.005). Rates of blood group AB was significantly lower than the control group (OR 0.37, 95% CI, p 0.04). The median survival (IR) time in subjects having the blood groups A, B, AB and O were 7.0 (1-28), 7.0 (2-38), 10 (2-36) and 9.0 (2-48) months respectively; the blood group 0 had significantly higher overall survival (OS) compared to the non-0 groups (p 0.04). Pancreatic cancer patients had more common blood group A in our population. Moreover, blood group AB appeared to be a protective factor against pancreatic cancer in our population. Blood group 0 had a significantly longer survival compared to non-0, regardless of prognostic factors.

  8. Distribution of HLA-A,B alleles in 13 panels of blood donors in France.

    Science.gov (United States)

    Prevost, P; Busson, M; Marcelli-Barge, A

    1984-05-01

    In this study, we analysed 13 samples of the French population--4147 non-related individuals living in Bordeaux, Brest, Caen, Dijon, Limoges, Lyon, Marseille, Nancy, Paris, Poitiers, Rennes, Strasbourg and Toulouse--all of whom were typed for 10 alleles of the HLA-A locus and 16 alleles of the HLA-B locus. The results showed a strong heterogeneity (chi 2 = 675.13 for 324 df, p less than 10(5)). A diagram has been drawn up, showing the matrix of genetic distances obtained thanks to the B2 of Balkrishnan & Sanghvi (1968). This diagram enables us to envisage the hypothesis of 6 homogeneous clusters. A partition of chi 2 was used to test this 6 luster hypothesis: Paris and Caen (p = 0.98); Nancy, Strasbourg (p less than 5%); Rennes, Brest (p less than 1%); Dijon, Lyon, Marseille (p = 0.89); Limoges, Poitiers (p = 0.18); Toulouse, Bordeaux (p less than 10(-5)). The heterogeneity within these clusters represents only 1/43 of the total heterogeneity.

  9. Comparison in anesthetic effects of propofol among patients with different ABO blood groups.

    Science.gov (United States)

    Du, Yiri; Shi, Haixia; Yu, Jianshe

    2017-05-01

    Our study was aimed to investigate anesthetic effects of propofol in patients with different blood groups.A total of 72 participants were enrolled from patients arranged for surgeries of cholecystectomy, tonsillectomy, and spinal operation. Each blood group (A, B, AB, and O) contained 18 participants. Mean arterial pressure (MAP), heart rate (HR), and bispectral index (BIS) were assayed with Philips monitor. These indexes were observed before propofol anesthesia (T0), and then were recorded when concentration of propofol was 1 μg/mL (T1), 2 μg/mL (T2), 3 μg/mL (T3), and 4 μg/mL (T4). The differences in MAP, HR, and BIS at T0 among groups were compared with the χ test. Multiple comparisons were adopted to calculate the differences in MAP, HR, and BIS between groups at T1, T2, T3, and T4.No significant differences in age, sex, and weight of all groups were found (P > .05). Before propofol anesthesia (T0), all the participants exhibited no differences in MAP, HR, and BIS (P > .05). Subsequently, we found obvious differences in ΔMAP, ΔHR, and ΔBIS between groups. The patients in the B blood group showed highest ΔMAP and ΔHR at each time point (P blood group exhibited highest value at T3 and T4 (P blood group remarkably affects the anesthetic effects of propofol.

  10. Prevalence of Rh, Duffy, Kell, Kidd & MNSs blood group antigens in the Indian blood donor population.

    Science.gov (United States)

    Makroo, R N; Bhatia, Aakanksha; Gupta, Richa; Phillip, Jessy

    2013-03-01

    Little data are available regarding the frequencies of the blood group antigens other than ABO and RhD in the Indian population. Knowledge of the antigen frequencies is important to assess risk of antibody formation and to guide the probability of finding antigen-negative donor blood, which is especially useful when blood is required for a patient who has multiple red cell alloantibodies. This study was carried out to determine the frequencies of the D, C, c, E, e, K, k, Fy(a), Fy(b), Jk(a), Jk(b), M, N, S and s antigens in over 3,000 blood donors. Samples from randomly selected blood donors from Delhi and nearby areas (both voluntary and replacement) were collected for extended antigen typing during the period January 2009 to January 2010. Antigens were typed via automated testing on the Galileo instrument using commercial antisera. A total of 3073 blood samples from donors were phenotyped. The prevalence of these antigens was found to be as follows in %: D: 93.6, C: 87, c: 58, E: 20, e: 98, K: 3.5, k: 99.97, F(a) : 87.4, Fy(b) : 57.6, Jk(a) : 81.5, Jk(b) : 67.4, M: 88.7, N: 65.4, S: 54.8 and s: 88.7. This study found the prevalence of the typed antigens among Indian blood donors to be statistically different to those in the Caucasian, Black and Chinese populations, but more similar to Caucasians than to the other racial groups.

  11. Report of the Second International Workshop on molecular blood group genotyping

    NARCIS (Netherlands)

    Daniels, G.; van der Schoot, C. E.; Olsson, M. L.

    2007-01-01

    The second International Society of Blood Transfusion and International Council for Standardization in Haematology workshop on molecular blood group genotyping was held in 2006. Forty-one laboratories participated. Six samples were distributed: two representing DNA from transfusion-dependent

  12. Dried blood spots of pooled samples for RHD gene screening in blood donors of mixed ancestry.

    Science.gov (United States)

    Silva-Malta, M C F; Araujo, N C Fidélis; Vieira, O V Neves; Schmidt, L Cayres; Gonçalves, P de Cassia; Martins, M Lobato

    2015-10-01

    In this study, we present a strategy for RHD gene screening based on real-time polymerase chain reaction (PCR) using dried blood spots of pooled samples. Molecular analysis of blood donors may be used to detect RHD variants among the presumed D-negative individuals. RHD genotyping using pooled samples is a strategy to test a large number of samples at a more reasonable cost. RHD gene detection based on real-time PCR using dried blood spots of pooled samples was standardised and used to evaluate 1550 Brazilian blood donors phenotyped as RhD-negative. Positive results were re-evaluated by retesting single samples using real-time PCR and conventional multiplex PCR to amplify five RHD-specific exons. PCR-sequence-specific primers was used to amplify RHDψ allele. We devised a strategy for RHD gene screening using dried blood spots of five pooled samples. Among 1550 serologically D-negative blood donors, 58 (3.74%) had the RHD gene. The non-functional RHDψ allele was detected in 47 samples (3.02%). The present method is a promising strategy to detect the RHD gene among presumed RhD-negative blood donors, particularly for populations with African ancestry. © 2015 British Blood Transfusion Society.

  13. ABO blood group phenotype frequency estimation using molecular phenotyping in rhesus and cynomolgus macaques.

    Science.gov (United States)

    Kanthaswamy, S; Ng, J; Oldt, R F; Valdivia, L; Houghton, P; Smith, D G

    2017-11-01

    A much larger sample (N = 2369) was used to evaluate a previously reported distribution of the A, AB and B blood group phenotypes in rhesus and cynomolgus macaques from six different regional populations. These samples, acquired from 15 different breeding and research facilities in the United States, were analyzed using a real-time quantitative polymerase chain reaction (qPCR) assay that targets single nucleotide polymorphisms (SNPs) responsible for the macaque A, B and AB phenotypes. The frequency distributions of blood group phenotypes of the two species differ significantly from each other and significant regional differentiation within the geographic ranges of each species was also observed. The B blood group phenotype was prevalent in rhesus macaques, especially those from India, while the frequencies of the A, B and AB phenotypes varied significantly among cynomolgus macaques from different geographic regions. The Mauritian cynomolgus macaques, despite having originated in Indonesia, showed significant (P ≪ .01) divergence from the Indonesian animals at the ABO blood group locus. Most Mauritian animals belonged to the B blood group while the Indonesian animals were mostly A. The close similarity in blood group frequency distributions between the Chinese rhesus and Indochinese cynomolgus macaques demonstrates that the introgression between these two species extends beyond the zone of intergradation in Indochina. This study underscores the importance of ABO blood group phenotyping of the domestic supply of macaques and their biospecimens. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. Relation of ABO blood groups to the severity of coronary atherosclerosis: an Gensini score assessment.

    Science.gov (United States)

    Gong, Ping; Luo, Song-Hui; Li, Xiao-Lin; Guo, Yuan-Lin; Zhu, Cheng-Gang; Xu, Rui-Xia; Li, Sha; Dong, Qian; Liu, Geng; Chen, Juan; Zeng, Rui-Xiang; Li, Jian-Jun

    2014-12-01

    Although the study on the relationship between ABO blood groups and coronary atherosclerosis has a long history, few data is available regarding ABO to severity of coronary atherosclerosis in a large cohort study. Therefore, the present study aimed to investigate the relation of the ABO blood groups to the severity of coronary atherosclerosis assessed by Gensini score (GS) in a large Chinese cohort undergoing coronary angiography. A total of 2919 consecutive patients undergoing coronary angiography were enrolled, and their baseline characteristics and ABO blood groups were collected. The GS was calculated as 1st tertile (0-10), 2nd tertile (11-36), 3rd tertile (>36) according to angiographic results. The relation of the ABO blood groups to GS was investigated. The frequency of blood group A was significantly higher in the upper GS tertiles (24.4% vs. 28.2% vs. 29.5%, p = 0.032). Multivariable linear regression analysis revealed that blood group A was independently associated with GS (β = 0.043, p = 0.017). Likewise, multivariable logistic regression analysis showed that group A remained significantly associated with mid-high GS (OR = 1.44, 95% CI 1.16-1.80, p = 0.001), and the group O was showed as a protective factor (OR = 0.77, 95% CI = 0.65-0.92, p = 0.004). In this large Chinese cohort study, the data indicated that there was an association between ABO blood groups and the severity of coronary atherosclerosis. Moreover, the blood group A was an independent risk factor for serious coronary atherosclerosis. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  15. Different HLA-DRB1 allele distributions in distinct clinical subgroups of sarcoidosis patients

    Directory of Open Access Journals (Sweden)

    Nisell Magnus

    2010-02-01

    Full Text Available Abstract Background A strong genetic influence by the MHC class II region has been reported in sarcoidosis, however in many studies with different results. This may possibly be caused by actual differences between distinct ethnic groups, too small sample sizes, or because of lack of accurate clinical subgrouping. Subjects and methods In this study we HLA typed a large patient population (n = 754 recruited from one single centre. Patients were sub-grouped into those with Löfgren's syndrome (LS (n = 302 and those without (non-Löfgren's (n = 452, and the majority of them were clinically classified into those with recovery within two years (resolving and those with signs of disease for more than two years (non-resolving. PCR was used for determination of HLA-DRB1 alleles. Swedish healthy blood donors (n = 1366 served as controls. Results There was a dramatic difference in the distribution of HLA alleles in LS compared to non-LS patients (p = 4 × 10-36. Most notably, DRB1*01, DRB1*03 and DRB1*14, clearly differed in LS and non-LS patients. In relation to disease course, DRB1*07, DRB1*14 and DRB1*15 generally associated with, while DRB1*01 and DRB1*03 protected against, a non-resolving disease. Interestingly, the clinical influence of DRB1*03 (good prognosis dominated over that of DRB1*15 (bad prognosis. Conclusions We found several significant differences between LS and non-LS patients and we therefore suggest that genetic association studies in sarcoidosis should include a careful clinical characterisation and sub-grouping of patients, in order to reveal true genetic associations. This may be particularly accurate to do in the heterogeneous non-LS group of patients.

  16. Report of the First International Workshop on molecular blood group genotyping

    NARCIS (Netherlands)

    Daniels, G.; van der Schoot, C. E.; Olsson, M. L.

    2005-01-01

    The use of molecular genetic technology for blood group typing is becoming routine procedure in many reference laboratories worldwide. A First International Workshop was organized on behalf of the International Society of Blood Transfusion (ISBT) and the International Council for Standardization in

  17. Rapid ABO genotyping by high-speed droplet allele-specific PCR using crude samples.

    Science.gov (United States)

    Taira, Chiaki; Matsuda, Kazuyuki; Takeichi, Naoya; Furukawa, Satomi; Sugano, Mitsutoshi; Uehara, Takeshi; Okumura, Nobuo; Honda, Takayuki

    2018-01-01

    ABO genotyping has common tools for personal identification of forensic and transplantation field. We developed a new method based on a droplet allele-specific PCR (droplet-AS-PCR) that enabled rapid PCR amplification. We attempted rapid ABO genotyping using crude DNA isolated from dried blood and buccal cells. We designed allele-specific primers for three SNPs (at nucleotides 261, 526, and 803) in exons 6 and 7 of the ABO gene. We pretreated dried blood and buccal cells with proteinase K, and obtained crude DNAs without DNA purification. Droplet-AS-PCR allowed specific amplification of the SNPs at the three loci using crude DNA, with results similar to those for DNA extracted from fresh peripheral blood. The sensitivity of the methods was 5%-10%. The genotyping of extracted DNA and crude DNA were completed within 8 and 9 minutes, respectively. The genotypes determined by the droplet-AS-PCR method were always consistent with those obtained by direct sequencing. The droplet-AS-PCR method enabled rapid and specific amplification of three SNPs of the ABO gene from crude DNA treated with proteinase K. ABO genotyping by the droplet-AS-PCR has the potential to be applied to various fields including a forensic medicine and transplantation medical care. © 2017 Wiley Periodicals, Inc.

  18. Intensive versus conventional blood pressure monitoring in a general practice population. The Blood Pressure Reduction in Danish General Practice trial: a randomized controlled parallel group trial.

    Science.gov (United States)

    Klarskov, Pia; Bang, Lia E; Schultz-Larsen, Peter; Gregers Petersen, Hans; Benee Olsen, David; Berg, Ronan M G; Abrahamsen, Henrik; Wiinberg, Niels

    2018-01-17

    To compare the effect of a conventional to an intensive blood pressure monitoring regimen on blood pressure in hypertensive patients in the general practice setting. Randomized controlled parallel group trial with 12-month follow-up. One hundred and ten general practices in all regions of Denmark. One thousand forty-eight patients with essential hypertension. Conventional blood pressure monitoring ('usual group') continued usual ad hoc blood pressure monitoring by office blood pressure measurements, while intensive blood pressure monitoring ('intensive group') supplemented this with frequent home blood pressure monitoring and 24-hour ambulatory blood pressure monitoring. Mean day- and night-time systolic and diastolic 24-hour ambulatory blood pressure. Change in systolic and diastolic office blood pressure and change in cardiovascular risk profile. Of the patients, 515 (49%) were allocated to the usual group, and 533 (51%) to the intensive group. The reductions in day- and night-time 24-hour ambulatory blood pressure were similar (usual group: 4.6 ± 13.5/2.8 ± 82 mmHg; intensive group: 5.6 ± 13.0/3.5 ± 8.2 mmHg; P = 0.27/P = 0.20). Cardiovascular risk scores were reduced in both groups at follow-up, but more so in the intensive than in the usual group (P = 0.02). An intensive blood pressure monitoring strategy led to a similar blood pressure reduction to conventional monitoring. However, the intensive strategy appeared to improve patients' cardiovascular risk profile through other effects than a reduction of blood pressure. Clinical Trials NCT00244660. © The Author 2018. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  19. Mannose-binding lectin variant alleles and HLA-DR4 alleles are associated with giant cell arteritis

    DEFF Research Database (Denmark)

    Jacobsen, Soren; Baslund, Bo; Madsen, Hans O.

    2002-01-01

    /GCA, MBL variant alleles were associated with signs of increased inflammatory activity and clinical signs of arteritic manifestations. This was not found for HLA-DR4 alleles. These findings indicate that HLA-DR4 and MBL are contributing to the pathophysiology of GCA at different levels in the disease...... alleles in controls, patients with PMR only, and patients with GCA was 37, 32, and 53% (p = 0.01), respectively. HLA-DRB1*04 was found in 47% of patients with PMR only and in 54% of patients with GCA, which differed significantly from the 35% found in controls (p = 0.01). HLA-DR4 alleles were...... not associated with any clinical phenotypes of PMR/GCA, whereas MBL variant alleles were associated with cranial arteritis, high erythrocyte sedimentation rate, and low B-hemoglobin. CONCLUSION: We found MBL variant alleles and HLA-DR4 alleles to be weak susceptibility markers for GCA. In patients with PMR...

  20. Simplification of genotyping techniques of the ABO blood type experiment and exploration of population genetics.

    Science.gov (United States)

    Hu, Jian; Zhou, Yi-ren; Ding, Jia-lin; Wang, Zhi-yuan; Liu, Ling; Wang, Ye-kai; Lou, Hui-ling; Qiao, Shou-yi; Wu, Yan-hua

    2017-05-20

    The ABO blood type is one of the most common and widely used genetic traits in humans. Three glycosyltransferase-encoding gene alleles, I A , I B and i, produce three red blood cell surface antigens, by which the ABO blood type is classified. By using the ABO blood type experiment as an ideal case for genetics teaching, we can easily introduce to the students several genetic concepts, including multiple alleles, gene interaction, single nucleotide polymorphism (SNP) and gene evolution. Herein we have innovated and integrated our ABO blood type genetics experiments. First, in the section of Molecular Genetics, a new method of ABO blood genotyping was established: specific primers based on SNP sites were designed to distinguish three alleles through quantitative real-time PCR. Next, the experimental teaching method of Gene Evolution was innovated in the Population Genetics section: a gene-evolution software was developed to simulate the evolutionary tendency of the ABO genotype encoding alleles under diverse conditions. Our reform aims to extend the contents of genetics experiments, to provide additional teaching approaches, and to improve the learning efficiency of our students eventually.

  1. Relationships between skin cancers and blood groups--link between non-melanomas and ABO/Rh factors.

    Science.gov (United States)

    Cihan, Yasemin Benderli; Baykan, Halit; Kavuncuoglu, Erhan; Mutlu, Hasan; Kucukoglu, Mehmet Burhan; Ozyurt, Kemal; Oguz, Arzu

    2013-01-01

    This investigation focused on possible relationships between skin cancers and ABO/Rh blood groups. Between January 2005 and December 2012, medical data of 255 patients with skin cancers who were admitted to Kayseri Training and Research Hospital, Radiation Oncology and Plastic Surgery Outpatient Clinics were retrospectively analyzed. Blood groups of these patients were recorded. The control group consisted of 25701 healthy volunteers who were admitted to Kayseri Training and Research Hospital, Blood Donation Center between January 2010 and December 2011. The distribution of the blood groups of the patients with skin cancers was compared to the distribution of ABO/Rh blood groups of healthy controls. The association of the histopathological subtypes of skin cancer with the blood groups was also investigated. Of the patients, 50.2% had A type, 26.3% had O type, 16.1% had B type, and 7.5% had AB blood group with a positive Rh (+) in 77.3%. Of the controls, 44.3% had A type, 31.5% had 0 type, 16.1% had B type, and 8.1% had AB blood group with a positive Rh (+) in 87.8%. There was a statistically significant difference in the distribution of blood groups and Rh factors (A Rh (-) and 0 Rh positive) between the patients and controls. A total of 36.8% and 20.4% of the patients with basal cell carcinoma (BCC) had A Rh (+) and B Rh (+), respectively, while 39.2% and 27.6% of the controls had A Rh (+) and B Rh (+), respectively. A significant relationship was observed between the patients with BCC and controls in terms of A Rh (-) (p=0.001). Our study results demonstrated that there is a significant relationship between non-melanoma skin cancer and ABO/Rh factors.

  2. Report of the fourth International Workshop on molecular blood group genotyping

    NARCIS (Netherlands)

    Daniels, G.; van der Schoot, C. E.; Olsson, M. L.

    2011-01-01

    The fourth International Society of Blood Transfusion (ISBT) workshop on molecular blood group genotyping was held in 2010, with a feedback meeting at the ISBT Congress in Berlin, Germany. Fifty laboratories participated, 17 more than in 2008. Six samples were distributed. Samples 1-3 were DNA

  3. Using high-resolution human leukocyte antigen typing of 11,423 randomized unrelated individuals to determine allelic varieties, deduce probable human leukocyte antigen haplotypes, and observe linkage disequilibria between human leukocyte antigen-B and-C and human leukocyte antigen-DRB1 and-DQB1 alleles in the Taiwanese Chinese population

    Directory of Open Access Journals (Sweden)

    Kuo-Liang Yang

    2017-01-01

    Full Text Available Objective: We report here the human leukocyte antigen (HLA allelic variety and haplotype composition in a cohort of the Taiwanese Chinese population and their patterns of linkage disequilibria on HLA-B: HLA-C alleles and HLA-DRB1: HLA-DQB1 alleles at a high-resolution level. Materials and Methods: Peripheral whole blood from 11,423 Taiwanese Chinese unrelated individuals was collected in acid citrate dextrose. Genomic DNA was extracted using the QIAamp DNA Blood Mini Kit. The DNA material was subjected to HLA genotyping for HLA-A,-B,-C,-DRB1, and-DQB1 loci using a commercial polymerase chain reaction-sequence-based typing (PCR-SBT kit, the SeCore® A/B/C/DRB1/DQB1 Locus Sequencing kit. High-resolution allelic sequencing was performed as previously described. Results: The number of individual HLA-B alleles detected was greater than the number of alleles recognized in the both the HLA-A and-DRB1 loci. Several novel alleles were discovered as a result of employing the SBT method and the high number of donors tested. In addition, we observed a genetic polymorphic feature of association between HLA-A and-B, HLA-B and-C, and HLA-DRB1 and-DQB1 alleles. Further, the homozygous haplotype frequencies of HLA-A and-B; HLA-A,-C, and-B; HLA-A,-C,-B, and-DRB1; and HLA-A,-C,-B,-DRB1, and-DQB1 in Taiwanese Chinese population are presented. Conclusion: As increasing number of HLA alleles are being discovered, periodic HLA profile investigation in a given population is essential to recognize the HLA complexity in that population. Population study can also provide an up-to-date strategic plan for future needs in terms of compatibility measurement for HLA matching between transplant donors and patients.

  4. Relation between ABO blood groups and Helicobacter pylori infection in symptomatic patients

    Directory of Open Access Journals (Sweden)

    Jaff MS

    2011-09-01

    Full Text Available Mohamad Salih Jaff Pathology Department, College of Medicine, Hawler Medical University (formerly Salahuddin University, Erbil, Kurdistan Region, Iraq Abstract: Epidemiological studies have demonstrated higher frequencies of the O blood group and the nonsecretor phenotype of ABH antigens among patients suffering from peptic ulcers. Since Helicobacter pylori has been established as the main etiological factor in this disease, controversies about the associations of the ABO and Lewis blood group phenotypes and secretor and nonsecretor phenotypes in relation to susceptibility towards infection by this bacillus have been presented. The aim of this study was to verify the frequencies of ABO and Rhesus (Rh blood groups in H. pylori seropositive symptomatic patients. The study included (n = 1108 patients with dyspepsia symptoms referred from an outpatient clinic in Erbil city for investigation. Age, sex, and residency were recorded as a routine laboratory framework. Patients underwent SD Bioline (Standard Diagnostics Inc, Kyonggi-do, South Korea and enzyme-linked immunosorbent assay serologic tests for H. pylori. ABO blood group phenotypes were determined by a standard hemagglutination test. Results showed that 64.8% of patients (n = 718/1108 were seropositive for H. pylori infection, and (35.2% (n = 390/1108 were seronegative. Of the seropositive patients, 40.8% (n = 293/718 were male and 59.2% (n = 425/718 were female; while of the seronegative patients, 46.7% (n = 182/390 were male and 53.3% (n = 208/390 were female. The mean age for seropositives and seronegatives was (38.0 ± 14.6 years and (37.6 ± 15.7 years respectively. The frequency of the ABO and Rh-positive (Rh+ blood groups among seropositive patients was (A = 32.0%, B = 19.5%, AB = 6.7%, O = 41.8%, and Rh+ = 92.5% and was (A = 32.3%, B = 28.2%, AB = 8.0%, O = 31.5%, and Rh+ = 92.5% in seronegatives. The results of this study suggest that ABO blood groups, age, and gender influence

  5. Gene frequencies of ABO and Rh blood groups in Nigeria: A review ...

    African Journals Online (AJOL)

    Background: ABO and Rhesus factor (Rh) blood type are germane in human life in genetics and clinical studies. Aim of the study: The review was undertaken with the objective to provide data on the ABO and Rh(D) blood group distribution and gene frequency across Nigeria which is vital for blood transfusion and ...

  6. Allele coding in genomic evaluation

    DEFF Research Database (Denmark)

    Standen, Ismo; Christensen, Ole Fredslund

    2011-01-01

    Genomic data are used in animal breeding to assist genetic evaluation. Several models to estimate genomic breeding values have been studied. In general, two approaches have been used. One approach estimates the marker effects first and then, genomic breeding values are obtained by summing marker...... effects. In the second approach, genomic breeding values are estimated directly using an equivalent model with a genomic relationship matrix. Allele coding is the method chosen to assign values to the regression coefficients in the statistical model. A common allele coding is zero for the homozygous...... genotype of the first allele, one for the heterozygote, and two for the homozygous genotype for the other allele. Another common allele coding changes these regression coefficients by subtracting a value from each marker such that the mean of regression coefficients is zero within each marker. We call...

  7. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

    Science.gov (United States)

    Cross, Deanna S; Ivacic, Lynn C; Stefanski, Elisha L; McCarty, Catherine A

    2010-06-17

    There is a lack of knowledge regarding the frequency of disease associated polymorphisms in populations and population attributable risk for many populations remains unknown. Factors that could affect the association of the allele with disease, either positively or negatively, such as race, ethnicity, and gender, may not be possible to determine without population based allele frequencies.Here we used a panel of 51 polymorphisms previously associated with at least one disease and determined the allele frequencies within the entire Personalized Medicine Research Project population based cohort. We compared these allele frequencies to those in dbSNP and other data sources stratified by race. Differences in allele frequencies between self reported race, region of origin, and sex were determined. There were 19544 individuals who self reported a single racial category, 19027 or (97.4%) self reported white Caucasian, and 11205 (57.3%) individuals were female. Of the 11,208 (57%) individuals with an identifiable region of origin 8337 or (74.4%) were German.41 polymorphisms were significantly different between self reported race at the 0.05 level. Stratification of our Caucasian population by self reported region of origin revealed 19 polymorphisms that were significantly different (p = 0.05) between individuals of different origins. Further stratification of the population by gender revealed few significant differences in allele frequencies between the genders. This represents one of the largest population based allele frequency studies to date. Stratification by self reported race and region of origin revealed wide differences in allele frequencies not only by race but also by region of origin within a single racial group. We report allele frequencies for our Asian/Hmong and American Indian populations; these two minority groups are not typically selected for population allele frequency detection. Population wide allele frequencies are important for the design and

  8. Intensive versus conventional blood pressure monitoring in a general practice population. The Blood Pressure Reduction in Danish General Practice trial: a randomized controlled parallel group trial

    DEFF Research Database (Denmark)

    Klarskov, Pia; Bang, Lia E; Schultz-Larsen, Peter

    2018-01-01

    To compare the effect of a conventional to an intensive blood pressure monitoring regimen on blood pressure in hypertensive patients in the general practice setting. Randomized controlled parallel group trial with 12-month follow-up. One hundred and ten general practices in all regions of Denmark....... One thousand forty-eight patients with essential hypertension. Conventional blood pressure monitoring ('usual group') continued usual ad hoc blood pressure monitoring by office blood pressure measurements, while intensive blood pressure monitoring ('intensive group') supplemented this with frequent...... a reduction of blood pressure. Clinical Trials NCT00244660....

  9. Estimating the probability of allelic drop-out of STR alleles in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Eriksen, Poul Svante; Mogensen, Helle Smidt

    2009-01-01

    In crime cases with available DNA evidence, the amount of DNA is often sparse due to the setting of the crime. In such cases, allelic drop-out of one or more true alleles in STR typing is possible. We present a statistical model for estimating the per locus and overall probability of allelic drop......-out using the results of all STR loci in the case sample as reference. The methodology of logistic regression is appropriate for this analysis, and we demonstrate how to incorporate this in a forensic genetic framework....

  10. Association of blood groups with ovarian reserve and outcome of in vitro fertilization treatment.

    Science.gov (United States)

    Awartani, Khalid; Al Ghabshi, Rahma; Al Shankiti, Hanan; Al Dossari, Mohamed; Coskun, Serdar

    2016-01-01

    The association between ABO blood groups and ovarian reserve in infertile patients has been a point of controversy. The aim of this study was to assess the correlation of certain blood groups with ovarian reserve and response to treatment in patients undergoing infertility treatment. Retrospective medical record review. Infertility clinic in the assisted reproductive technology (ART) unit at King Faisal Specialist Hospital and Research Center, Riyadh Saudi Arabia. All patients under 40 years of age who attended the infertility clinic at a tertiary care centre in 2010 and underwent in vitro fertilization (IVF) treatment in 2010 and 2011 were divided into groups according to blood type, and clinical parameters were compared. The association between blood groups and ovarian reserve using day 3 luteinzing hormone (LH) and follicular stimulating hormone (FSH) levels, and antral follical count (AFC). In 424 patients who underwent 566 IVF cycles, age, LH, FSH and AFC were similar among the different blood groups (P=.9, .1, .5, respectively). with controlled ovarian stimulation, no difference was observed among the four groups in menopausal gonadotrophin (hMG) dose or the duration of stimulation. The number of oocytes retrieved, fertilization rate, cleavage rate, and number of embryos transferred were similar. There was no difference in the cancellation rate or pregnancy rate among the groups. There was no significant association between blood type and ovarian reserve or response during IVF treatment in our population. Anti-Mullerian hormone levels are best correlated with ovarian reserve testing. Unavailability of AMH levels. Retrospective design.

  11. INCREASED VASOOCCLUSIVE CRISIS IN “O” BLOOD GROUP SICKLE CELL DISEASE PATIENTS: ASSOCIATION WITH UNDERLYING THROMBOSPONDIN LEVELS.

    Directory of Open Access Journals (Sweden)

    M. Al Huneini

    2017-04-01

    Full Text Available Abstract: Objectives: To explore the incidence of vaso-occlusive crisis (VOC in Blood Group “O” sickle cell disease (SCD patients, and correlate it with the blood group and thrombospondin (TSP levels. Methods: In 89 consecutive SCD patients, blood samples were obtained for vWF antigen, collagen binding activity, blood group typing, C-reactive protein, variant hemoglobin analysis (HPLC, Serum TSP 1 and TSP 2 levels, complete blood counts, liver function tests, LDH and renal function tests during VOC episodes and in steady state conditions. Results: In the steady state SCD patients (n=72, “O” blood group patients (n=37 showed significantly higher median serum TSP 1 and TSP 2 levels than the non “O” blood group patients [n=35] [p <0.05, Mann-Whitney test], with an inverse relation between VWF:Ag, Factor VIII:C and TSP levels. Furthermore, the serum TSP 1 and TSP 2 levels were significantly higher in patients presenting with acute VOC [n=17], and in those with repeated VOC’s (group 1, n=16 especially amongst those patients with blood group “O” [p, <0.05, Mann-Whitney test]. Conclusions: The study shows that there was an inverse relation between TSP and vWF levels, in blood group “O” SCD patients with an upregulation of the TSP levels. Expectedly, during active VOC crisis, the TSP 1 and TSP 2 levels were significantly elevated.    Key Words: VOC; SCD; TSP; vWD; Blood groups

  12. ABO and RhD blood groups and gestational hypertensive disorders: a population-based cohort study.

    Science.gov (United States)

    Lee, B K; Zhang, Z; Wikman, A; Lindqvist, P G; Reilly, M

    2012-09-01

    To examine the association between ABO and RhD blood groups and gestational hypertensive disorders in a large population-based cohort. Cohort study. Risks of gestational hypertensive disorders, pre-eclampsia, and severe pre-eclampsia, estimated by odds ratios for maternal ABO blood group and RhD status. National health registers of Sweden. All singleton deliveries in Sweden born to first-time mothers during the period 1987-2002 [total n = 641 926; any gestational hypertensive disorders, n = 39 011 (6.1%); pre-eclampsia cases, n = 29 337 (4.6%); severe pre-eclampsia cases, n = 8477 (1.3%)]. Using blood group O as a reference, odds ratios of gestational hypertensive disorders, pre-eclampsia, and severe pre-eclampsia were obtained from logistic regression models adjusted for potential confounding factors. Gestational hypertensive disorders, pre-eclampsia, and severe pre-eclampsia. Compared with blood group O, all non-O blood groups had modest but statistically significantly higher odds of pre-eclampsia. Blood group AB had the highest risk for pre-eclampsia (OR = 1.10, 95% CI 1.04-1.16) and severe pre-eclampsia (OR = 1.18, 95% CI 1.07-1.30). RhD-positive mothers had a small increased risk for pre-eclampsia (OR = 1.07, 95% CI 1.03-1.10). In the largest study on this topic to date, women with AB blood group have the highest risks of gestational hypertensive disorders, pre-eclampsia, and severe pre-eclampsia, whereas women with O blood group have the lowest risks of developing these disorders. Although the magnitude of increased risk is small, this finding may help improve our understanding of the etiology of pre-eclampsia. © 2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG.

  13. HFE gene mutations and iron status of Brazilian blood donors.

    Science.gov (United States)

    Santos, P C J L; Cançado, R D; Terada, C T; Rostelato, S; Gonzales, I; Hirata, R D C; Hirata, M H; Chiattone, C S; Guerra-Shinohara, E M

    2010-01-01

    Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018) and a 83.65% decrease (P = 0.007) in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001) and the HFE 63HD plus DD genotype (55.84%, P = 0.021). In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

  14. HFE gene mutations and iron status of Brazilian blood donors

    Directory of Open Access Journals (Sweden)

    P.C.J.L. Santos

    2010-01-01

    Full Text Available Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542 were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018 and a 83.65% decrease (P = 0.007 in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001 and the HFE 63HD plus DD genotype (55.84%, P = 0.021. In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

  15. ABO blood group is associated with response to inhaled nitric oxide in neonates with respiratory failure.

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    George T El-Ferzli

    Full Text Available Inhaled nitric oxide (iNO reduces death or need for extracorporeal membrane oxygenation (ECMO in infants with persistent pulmonary hypertension of the newborn (PPHN. However, the response to iNO is variable and only 50-60% of infants demonstrate a response to iNO. It is not known why only some infants respond to iNO. Adults and children with blood groups B or AB do not respond as well to iNO as those with blood groups O/A.To determine if blood group was associated with iNO response in newborn infants, a retrospective medical record review was done of infants admitted to a regional NICU from 2002-9 with a diagnosis of PPHN. Data were collected during the first twelve hours post-initiation of treatment. Of 86 infants diagnosed with PPHN, 23 infants had blood group A [18 received iNO], 21 had group B [18 with iNO], 40 had group O [36 with iNO], and 2 had group AB [both received iNO]. Change in PaO(2/FiO(2 was less in infants with blood group A, of whom less than half were responders (ΔPaO(2/FiO(2>20% at 12 h versus 90% of infants with either O or B. Race, sex, birth weight, gestational age, Apgar scores at 1 and 5 minutes, and baseline PaO(2/FiO(2 were similar among groups. Outcomes including need for ECMO, death, length of ventilatory support, length of iNO use, and hospital stay were statistically not different by blood groups.Our results indicate that blood group influences iNO response in neonates. We hypothesize that either there is genetic linkage of the ABO gene locus with vasoregulatory genes, or that blood group antigens directly affect vascular reactivity.

  16. Relative Risks of Thrombosis and Bleeding in Different ABO Blood Groups.

    Science.gov (United States)

    Franchini, Massimo; Lippi, Giuseppe

    2016-03-01

    The ABO blood group system is composed of complex carbohydrate molecules (i.e., the A, B, and H determinants) that are widely expressed on the surface of red blood cells and in a variety of other cell and tissues. Along with their pivotal role in transfusion and transplantation medicine, the ABO antigens participate in many other physiological processes and, in particular, are important determinants of von Willebrand factor and factor VIII circulating plasma levels. The precise influence of the ABO system on hemostasis has led the way to the investigation of a putative implication in the risk of developing cardiovascular disorders. Along with the underlying molecular mechanisms, the current knowledge on the role of ABO blood group antigens in both the thrombotic and hemorrhagic risk will be summarized in this narrative review. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  17. A study of the association of childhood asthma with HLA alleles in the population of Siliguri, West Bengal, India.

    Science.gov (United States)

    Lama, M; Chatterjee, M; Chaudhuri, T K

    2014-09-01

    Asthma is a heterogeneous disease for which a strong genetic basis is firmly established. It is a complex disorder influenced by gene-environment interaction. Human leukocyte antigen (HLA) genes have been shown to be consistently associated with asthma and its related phenotypes in various populations. The aim of this study was to determine the frequency of the selected HLA classes I and II allelic groups in asthmatic and control groups. HLA typing was performed using polymerase chain reaction-sequence-specific typing (PCR-SSP) method. The allele frequency was estimated by direct counting. Frequency of each HLA allelic group was compared between asthmatic group and control group using χ(2) test. P-value was corrected by multiplying with the number of the allelic groups studied. Odds ratio (OR) and its corresponding 95% confidence interval (CI) for each allelic group were calculated using graphpad instat 3.10. The results of this study showed a significantly higher frequency of HLA-DRB1*03 in asthmatics than in controls (11.43% vs 3.64%, OR = 3.78, 95% CI = 1.61-8.85, P = 0.0025, Pcorr  population. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. MICA diversity and linkage disequilibrium with HLA-B alleles in renal-transplant candidates in southern Brazil.

    Science.gov (United States)

    Yamakawa, Roger Haruki; Saito, Patrícia Keiko; Gelmini, Geórgia Fernanda; da Silva, José Samuel; Bicalho, Maria da Graça; Borelli, Sueli Donizete

    2017-01-01

    The major histocompatibility complex (MHC) class I chain-related gene A (MICA) is located centromerically to the human leukocyte antigen (HLA)-B. The short distance between these loci in the MHC indicates the presence of linkage disequilibrium (LD). Similarly to the HLA, the MICA is highly polymorphic, and this polymorphism has not been well documented in different populations. In this study, we estimated the allelic frequencies of MICA and the linkage disequilibrium with HLA-B alleles in 346 renal-transplant candidates in southern Brazil. MICA and HLA were typed using the polymerase chain reaction-sequence-specific primer method (PCR-SSO), combined with the Luminex technology. A total of 19 MICA allele groups were identified. The most frequent allele groups were MICA*008 (21.6%), MICA*002 (17.0%) and MICA*004 (14.8%). The most common haplotypes were MICA*009-B*51 (7.8%), MICA*004-B*44 (6.06%) and MICA*002-B*35 (5.63%). As expected from the proximity of the MICA and HLA-B loci, most haplotypes showed strong LD. Renal patients and healthy subjects in the same region of Brazil showed statistically significant differences in their MICA polymorphisms. The MICA*027 allele group was more frequent in renal patients (Pc = 0.018, OR: 3.421, 95% CI: 1.516-7.722), while the MICA*019 allele group was more frequent in healthy subjects (Pc = 0.001, OR: 0.027, 95% CI: 0.002-0.469). This study provided information on the distribution of MICA polymorphisms and linkage disequilibrium with HLA-B alleles in Brazilian renal-transplant candidates. This information should help to determine the mechanisms of susceptibility to different diseases in patients with chronic kidney disease, and to elucidate the mechanisms involved in allograft rejection associated with MICA polymorphisms in a Brazilian population.

  19. An unusual occurrence of repeated single allele variation on Y-STR locus DYS458

    Directory of Open Access Journals (Sweden)

    Pankaj Shrivastava

    2016-09-01

    Full Text Available Six brothers were accused of gagging and raping a woman. A single male Y-STR profile was obtained from vaginal smear swab and clothes of the victim, which did not match with the DNA profile of the accused brothers. As a reference point, the blood sample of their father (aged 87 years was also analyzed with the same kit. The Y-STR haplotype of all six brothers was found to be the same as that of their father except at locus DYS458. At this locus, while the eldest, second and fourth siblings share allele 18 with their father, a loss of one repeat (allele 17 instead of 18 is observed in the third son while fifth and sixth siblings have allele 19 representing a gain of one repeat. Thus, two changes viz. a gain (twice and loss of one repeat at this locus in one generation is both interesting and unusual.

  20. How good is the obesity associated with blood groups in a cohort of female university going students?

    Science.gov (United States)

    Jawed, Shireen; Atta, Komal; Tariq, Saba; Amir, Farah

    2018-01-01

    To find out frequency of obesity in female University students in Faisalabad and to investigate its association with blood groups of ABO system. A cross sectional study was conducted with a sample size of 200 female University students, recruited from the Faisalabad based institutes from May 2017 to July 2017. Relevant information was taken by administering questionnaire. Height in meters and weight in kg were taken by stadiometer. BMI was calculated using formula BMI=weight in kg/height m 2 . Blood groups were determined by classic (antigen-antibody agglutination test). The data was analyzed through SPSS 20. Descriptive were presented as mean± SD and association of BMI with blood groups was assessed by regression analysis. P value ≤0.05 deemed statistically significant. Out of students, 192 attempted the questionnaire and participated in study (96% response rate), 30% of the 192 females were obese, distribution of ABO blood group showed 43%, followed by O, A and AB. 90% were Rh positive and 10% were Rh negative. Blood group O showed a trend towards obesity and blood group AB showed a trend towards lean body. The blood group O showed the significant positive association with obesity. Population with blood group O showed greatest susceptibility to be overweight and obese.

  1. Assessment of relationship of ABO blood groups among tobacco induced oral cancer patients of Kanpur Population, Uttar Pradesh.

    Science.gov (United States)

    Ramesh, Gayathri; Katiyar, Anuradha; Raj, Amrita; Kumar, Amit; Nagarajappa, Ramesh; Pandey, Amit

    2017-11-01

    The possibility of association between ABO blood groups and malignancy was first discussed by Anderson DE & Haas C. The association between blood group and oral cancer is least explored and hence this study was undertaken to evaluate relationship of ABO blood groups with an increased risk for oral cancer. The present study was conducted at various cancer hospitals in Kanpur. The study samples comprised 100 oral cancer patients and 50 controls with tobacco chewing habit. The information regarding the socio demographic profile, history on tobacco habits, type of oral cancer and ABO blood group profile was obtained from the case sheets of the patients. The frequency of squamous cell carcinoma was significantly higher in men (78%) than women (22%) and mostly found in the age range of 45-65 years and also consuming chewing type of tobacco. It was found that out of 100 patients, 53 were of blood group B+ve, 28 of O +ve, 16 of A+ve and 3 had the blood group AB+ve. The high potential risk of developing OSCC was more in B+ve blood group (1.96 times), and relative frequency (%) in blood group O+ve (1.64 times) than in the control group Among locations of oral cancers, squamous cell carcinoma of tongue (25%) and buccal mucosa (15%) was more common in B+ve and Carcinoma of floor of mouth (11%) was more common in O+ve blood group cases. It was found that people with blood group B+ve, followed by O+ve had increased risk of developing OSCC with most prevalent being Well Differentiated OSCC as compared to people of other blood groups. The present study reveals that there is an inherited element in the susceptibility against different types of oral cancers. The people with blood group B+ve and O+ve having tobacco chewing habits can be appraised that they are more at risk to develop oral cancer than people with other blood groups.

  2. Polycystic ovary syndrome, blood group & diet: A correlative study in South Indian females

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    Rahul Pal, Pratik Kumar Chatterjee, Poulomi Chatterjee, Vinodini NA, PrasannaMithra, Sourjya Banerjee, Suman VB2, Sheila R. Pai

    2014-07-01

    Full Text Available Aim: To find out the co-relation between polycystic ovary syndrome (PCOS with blood group & diet in South Indian females, between the age-group of (20-30 years. Objectives: Correlative analysis of ABO & Rh system, dietary habits & alcohol consumption with PCOS. Materials & Methods: 100 patients between (20-30 years, diagnosed with PCOS were selected. A standard PCOS questionnaire was given. Blood group & dietary status data were collected. Patients were grouped according to ABO & Rh system considering their diet & alcohol intake (p≤0.05 significant. Result: Our data revealed that the highest risk of PCOS was observed in females with blood group ‘O’ positive followed by ‘B’ positive who were on mixed diet & used to consume alcohol. Our study also suggests that Rh negative individuals didn’t show any association with PCOS. Conclusion: The results of our study suggest that ‘O’ positive females, are more prone to PCOS. Though the relative frequency of B positive individuals are more in India, females with blood group O positive are more susceptible to PCOS, contributing factors being mixed diet & alcohol intake. So, early screening of ‘O’ positive &‘B’ positive females of reproductive age-group in South-India, could be used as a measure for timely diagnosis of PCOS, better management &also prevention of complications. However, further research should be done to investigate the multifaceted mechanisms triggering these effects.

  3. ABO Blood Groups Influence Macrophage-mediated Phagocytosis of Plasmodium falciparum-infected Erythrocytes

    Science.gov (United States)

    Branch, Donald R.; Hult, Annika K.; Olsson, Martin L.; Liles, W. Conrad; Cserti-Gazdewich, Christine M.; Kain, Kevin C.

    2012-01-01

    Erythrocyte polymorphisms associated with a survival advantage to Plasmodium falciparum infection have undergone positive selection. There is a predominance of blood group O in malaria-endemic regions, and several lines of evidence suggest that ABO blood groups may influence the outcome of P. falciparum infection. Based on the hypothesis that enhanced innate clearance of infected polymorphic erythrocytes is associated with protection from severe malaria, we investigated whether P. falciparum-infected O erythrocytes are more efficiently cleared by macrophages than infected A and B erythrocytes. We show that human macrophages in vitro and mouse monocytes in vivo phagocytose P. falciparum-infected O erythrocytes more avidly than infected A and B erythrocytes and that uptake is associated with increased hemichrome deposition and high molecular weight band 3 aggregates in infected O erythrocytes. Using infected A1, A2, and O erythrocytes, we demonstrate an inverse association of phagocytic capacity with the amount of A antigen on the surface of infected erythrocytes. Finally, we report that enzymatic conversion of B erythrocytes to type as O before infection significantly enhances their uptake by macrophages to observed level comparable to that with infected O wild-type erythrocytes. These data provide the first evidence that ABO blood group antigens influence macrophage clearance of P. falciparum-infected erythrocytes and suggest an additional mechanism by which blood group O may confer resistance to severe malaria. PMID:23071435

  4. Blood group A and Rh(D)-negativity are associated with symptomatic West Nile virus infection

    Science.gov (United States)

    Kaidarova, Zhanna; Bravo, Marjorie D.; Kamel, Hany T.; Custer, Brian S; Busch, Michael P.; Lanteri, Marion C.

    2016-01-01

    Background West Nile virus (WNV) infection is mostly asymptomatic but 20% of subjects report WNV fever and 1% of patients experience neurological diseases with higher rates in elderly and immunosuppressed persons. With no treatment and no vaccine to prevent the development of symptomatic infections, it is essential to understand prognostic factors influencing symptomatic disease outcome. Host genetic background has been linked to the development of WNV neuroinvasive disease. The present study investigates the association between the ABO and Rh(D) blood group status and WNV disease outcome. Study Design and Methods The distribution of blood groups was investigated within a cohort of 374 WNV+ blood donors including 244 asymptomatic (AS) and 130 symptomatic (S) WNV+ blood donors. Logistic regression analyses were used to examine associations between A, B, O and Rh(D) blood groups and WNV clinical disease outcome. Results Symptomatic WNV+ donors exhibited increased frequencies of blood group A (S 47.6% AS 36.8%, P=0.04, OR [95%CI] 1.56 [1.01–2.40]) and Rh(D)-negative individuals (S 21.5% AS 13.1%, P=0.03, OR [95%CI] 1.82 [1.04–3.18]). Conclusion The findings suggest a genetic susceptibility placing blood group A and Rh(D)-negative individuals at risk for the development of symptomatic disease outcome after WNV infection. PMID:27189860

  5. Sistema de grupo sangüíneo Duffy: biologia e prática transfusional Duffy blood group system: biology and transfusion practice

    Directory of Open Access Journals (Sweden)

    Eduardo Jens

    2005-06-01

    locus was mapped on chromosome 1q22-q23. The Fyª and Fy b antigens are encoded by FYA and FYB alleles, and are responsible for the Fy(a+b-, Fy(a-b+ and Fy(a+b+ phenotypes. They are carried by a 336 amino acid glycoprotein called DARC (Duffy Antigen/Receptor for Chemokines which has high affinity to chemokines, also being Plasmodium vivax receptors. The polymorphisms related to its alleles have led to the development of a PCR genotyping technique, which is useful for the safety of blood transfusion, and determining fetus-maternal incompatibilities. In the last decade, much research has been done to determine the biological role of blood group antigens. In this paper we reviewed the Duffy Blood Group System, especially in respect to transfusional practice and biological functions.

  6. Gene frequencies of ABO and Rh blood groups in Nigeria: A review

    African Journals Online (AJOL)

    Abass Toba Anifowoshe

    2016-12-05

    Dec 5, 2016 ... d Department of Science Technology, The Federal Polytechnic Ado-Ekiti, Nigeria .... germane discoveries lead to reduced mortality due to blood trans- fusion. Human ABO ... the current frequencies of ABO types among populations based ... ABO blood group system extends beyond transfusion medicine/.

  7. Abo And Rhesus Blood Groups Distribution In Mothers And ...

    African Journals Online (AJOL)

    Objective: To provide information in the distribution of ABO and Rhesus Blood Group in our population. Study Population/Methods: One hundred and twenty one antenatal mothers who were sequentially booked in antenatal care clinic of University of Jos Health Clinic, Jos, Plateau State after their informed consent.

  8. Impact of pre-existing MSP142-allele specific immunity on potency of an erythrocytic Plasmodium falciparum vaccine

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    Bergmann-Leitner Elke S

    2012-09-01

    Full Text Available Abstract Background MSP1 is the major surface protein on merozoites and a prime candidate for a blood stage malaria vaccine. Preclinical and seroepidemiological studies have implicated antibodies to MSP1 in protection against blood stage parasitaemia and/or reduced parasite densities, respectively. Malaria endemic areas have multiple strains of Plasmodium falciparum circulating at any given time, giving rise to complex immune responses, an issue which is generally not addressed in clinical trials conducted in non-endemic areas. A lack of understanding of the effect of pre-existing immunity to heterologous parasite strains may significantly contribute to vaccine failure in the field. The purpose of this study was to model the effect of pre-existing immunity to MSP142 on the immunogenicity of blood-stage malaria vaccines based on alternative MSP1 alleles. Methods Inbred and outbred mice were immunized with various recombinant P. falciparum MSP142 proteins that represent the two major alleles of MSP142, MAD20 (3D7 and Wellcome (K1, FVO. Humoral immune responses were analysed by ELISA and LuminexTM, and functional activity of induced MSP142-specific antibodies was assessed by growth inhibition assays. T-cell responses were characterized using ex vivo ELISpot assays. Results Analysis of the immune responses induced by various immunization regimens demonstrated a strong allele-specific response at the T cell level in both inbred and outbred mice. The success of heterologous regimens depended on the degree of homology of the N-terminal p33 portion of the MSP142, likely due to the fact that most T cell epitopes reside in this part of the molecule. Analysis of humoral immune responses revealed a marked cross-reactivity between the alleles. Functional analyses showed that some of the heterologous regimens induced antibodies with improved growth inhibitory activities. Conclusion The development of a more broadly efficacious MSP1 based vaccine may be

  9. Relationship between ABO blood groups and von Willebrand factor, ADAMTS13 and factor VIII in patients undergoing hemodialysis.

    Science.gov (United States)

    Rios, Danyelle R A; Fernandes, Ana Paula; Figueiredo, Roberta C; Guimarães, Daniela A M; Ferreira, Cláudia N; Simões E Silva, Ana C; Carvalho, Maria G; Gomes, Karina B; Dusse, Luci Maria Sant' Ana

    2012-05-01

    Several studies have demonstrated that non-O blood groups subjects present an increased VTE risk as compared to those carrying O blood group. The aim of this study was to investigate the ABO blood groups influence on factor VIII (FVIII) activity, von Willebrand factor (VWF), and ADAMTS13 plasma levels in patients undergoing hemodialysis (HD). Patients undergoing HD (N=195) and 80 healthy subjects (control group) were eligible for this cross-sectional study. The ABO blood group phenotyping was performed by the reverse technique. FVIII activity was measured through coagulometric method, and VWF and ADAMTS13 antigens were assessed by ELISA. FVIII activity and VWF levels were significantly higher and ADAMTS13 levels was decreased in HD patients, as compared to healthy subjects (P blood groups showed a significant increase in FVIII activity (P = 0.001) and VWF levels (P blood group. However, no significant difference was observed in ADAMTS13 levels (P = 0.767). In the control group, increased in FVIII activity (P = 0.001) and VWF levels (P = 0.002) and decreased in ADAMTS13 levels (P = 0.005) were observed in subjects carrying non-O blood groups as compared to carriers of O blood group.Our data confirmed that ABO blood group is an important risk factor for increased procoagulant factors in plasma, as FVIII and VWF. Admitting the possible role of kidneys in ADAMTS13 synthesis or on its metabolism, HD patients were not able to increase ADAMTS13 levels in order to compensate the increase of VWF levels mediated by ABO blood groups. Considering that non-O blood groups constitute a risk factor for thrombosis, it is reasonable to admit that A, B and AB HD patients need a careful and continuous follow-up in order to minimize thrombotic events.

  10. Are the blood groups of women with preeclampsia a risk factor for the development of hypertension postpartum?

    Science.gov (United States)

    Avci, Deniz; Karagoz, Hatice; Ozer, Ozerhan; Esmeray, Kubra; Bulut, Kadir; Aykas, Fatma; Cetinkaya, Ali; Uslu, Emine; Karahan, Samet; Basak, Mustafa; Erden, Abdulsamet

    2016-01-01

    Preeclampsia (PE) is a pregnancy-related disorder characterized by hypertension (HT) and proteinuria noticeable after 20 weeks of gestation. PE is now considered as a cardiovascular disease risk factor and a number of studies have shown that experiencing PE increases the prevalence of various cardiovascular risk factors, such as metabolic syndrome and HT. In this study, we aimed to investigate any possible relationship between the ABO/Rh blood group system and PE in Turkey. In the second part of the study, we examined the relationship between the ABO blood group system and development of HT after PE. A total of 250 patients with PE from Kayseri Training and Research Hospital between 2002 and 2012 were included in the study. Patients were classified according to blood groups (A, B, AB, and O) and Rh status (+/-). There was a significant difference between the patients with PE and the control group in terms of distribution of ABO blood groups and the percentage of group AB was found to be higher in patients with PE compared to the control group (P=0.029). The risk of developing PE was significantly higher in group AB than other blood groups (P=0.006). The risk of developing HT after PE was significantly higher in group O than other blood groups (P=0.004). In this study, we found that the patients with blood group AB have a higher risk for PE. The patients with PE of blood group O are at high risk of developing HT, and Rh factor was identified as another risk at this point and these patients should be closely followed postpartum.

  11. Prevalence of Diego blood group antigen and the antibody in three ethnic population groups in Klang valley of Malaysia

    OpenAIRE

    Cheong Tar Wei; Faisal Muti Al-Hassan; Norris Naim; Aishah Knight; Sanmukh R Joshi

    2013-01-01

    Background: Diego blood group antigen, Di(a), is very rare among Caucasians and Blacks, but relatively common among the South American Indians and Asians of Mongolian origin. The antibody to Di(a) is clinically significant to cause hemolytic disease in a new-born or hemolytic transfusion reaction. Objectives: This study was designed to determine the prevalence of Di(a) antigen among the blood donors from the three major ethnic groups in Klang Valley of Malaysia as well as to find an incidence...

  12. A research on relationship between ABO blood groups and body mass index among Turkish seafarers.

    Science.gov (United States)

    Nas, Selçuk; Fışkın, Remzi

    2017-01-01

    The present study aims to investigate and to reveal the relationship between ABO blood groups and body mass index (BMI) and obesity among Turkish seafarers by using the health examination reports data obtained from 2009 to 2016. The data on age, gender, weight, height and blood groups obtained from 298,247 medical examination reports of Turkish seafarers were used with the official permission of Directorate General of Health for Border and Coastal Areas. Only 116,871 reports included blood group data. Regression and analysis of variance (ANOVA) tests were performed to survey relationship between variables. The results of the study were compared with other studies in the related literature. It has been revealed that AB Rh (-) group was associated the highest mean BMI value (mean: 25.952). It is suggested that seafarers with AB Rh (-) blood group, who have the highest mean BMI value, should pay special attention to their weight.

  13. Impact of sickle cell trait on the thrombotic risk associated with non-O blood groups in northern Nigeria.

    Science.gov (United States)

    Ahmed, Sagir G; Kagu, Modu B; Ibrahim, Umma A; Bukar, Audu A

    2015-10-01

    The non-O blood group is an established risk factor for deep vein thrombosis (DVT), while controversy surrounds the role of sickle cell trait (SCT) as a risk factor for DVT. We hypothesised that if SCT is a risk factor for DVT, individuals with non-O blood groups and SCT (Hb AS) would have a higher risk of DVT than their counterparts with non-O blood groups and normal haemoglobin phenotype (Hb AA). We retrospectively analysed the prevalence of SCT and non-O blood groups among 148 DVT patients with control subjects in order to determine the role of SCT as a risk factor for DVT and its impact on the risk of DVT among patients with non-O blood groups. In comparison with control subjects, DVT patients had significantly higher prevalences of SCT (35.1% vs 27.7%, p=0.04) and non-O blood groups (68.9% vs 45.9%, p=0.02). The odds ratios for DVT due to SCT, non-O blood groups with normal Hb phenotype (Hb AA) and non-O blood groups with SCT (Hb AS) were 1.3, 2.4 and 3.5, respectively. These results suggest that SCT by itself is a weak risk factor for DVT but it has the potential of escalating the DVT risk among patients with non-O blood groups. The combined effects of elevated clotting factors (non-O group effect) and increased clotting factor activation (SCT effect) were responsible for the escalated DVT risk among patients with co-inheritance of non-O blood groups and SCT. Co-inheritance of SCT and non-O blood group is, therefore, an important mixed risk factor for DVT. This should be taken into account when assessing DVT risk profiles of patients in Africa and other parts of the world where the SCT is prevalent.

  14. Abnormal segregation of alleles in CEPH pedigree DNAs arising from allele loss in lymphoblastoid DNA.

    Science.gov (United States)

    Royle, N J; Armour, J A; Crosier, M; Jeffreys, A J

    1993-01-01

    Somatic events that result in the reduction to hemi- or homozygosity at all loci affected by the event have been identified in lymphoblastoid DNA from mothers of two CEPH families. Using suitably informative probes, the allele deficiencies were detected by the abnormal transmission of alleles from grandparents to grandchildren, with the apparent absence of the alleles from the parent. Undetected somatic deficiencies in family DNAs could result in misscoring of recombination events and consequently introduce errors into linkage analysis.

  15. Correlation of ABO and Rh blood groups with transfusion administration and fever onset after hip surgery in children.

    Science.gov (United States)

    Brdar, Radivoj; Petronic, Ivana; Nikolic, Dejan; Golubovic, Zoran; Bukva, Bojan; Radlovic, Vladimir; Abramovic, Dusan; Ducic, Sinisa; Colovic, Hristina

    2012-01-01

    Aim of our study was to evaluate distribution of ABO and Rh blood type groups in children after hip surgery regarding transfusion administration and fever presence. Four types of ABO blood groups (A; B; AB; O) and 2 types of Rh blood groups (Rh+; Rh-) were evaluated in group with administered transfusion (tr+) and without given transfusion (tr-); and in group with fever (fev+) and without fever (fev-), in 146 children after hip surgery. Tr+ and fev+ groups were divided into 3 groups (0-24h; 25-48h; 49-72h): for tr+ group (Group 1, Group 2, Group 3), and for fev+ group (Group A, Group B, Group C). AB blood group significantly decreased in Group 1 (χ2= 6.44; pblood group in Group 3 in tr+ group (χ2= 7.68; pblood group significantly increased in Group 3 in tr+ group (χ2= 9.96; pblood group significantly decreased in Groups B (χ2= 12.2; pblood group significantly increased in Group C (χ2= 34.4; pgroup. Administration of transfusion and fever onset in pediatric patients undergoing surgical correction of the hip is not influenced by the ABO and Rh blood groups system in humans. There is correlation between distribution of ABO blood groups with the time of transfusion administration and fever onset in children after hip surgery.

  16. Allelic database and accession divergence of a Brazilian mango collection based on microsatellite markers.

    Science.gov (United States)

    Dos Santos Ribeiro, I C N; Lima Neto, F P; Santos, C A F

    2012-12-19

    Allelic patterns and genetic distances were examined in a collection of 103 foreign and Brazilian mango (Mangifera indica) accessions in order to develop a reference database to support cultivar protection and breeding programs. An UPGMA dendrogram was generated using Jaccard's coefficients from a distance matrix based on 50 alleles of 12 microsatellite loci. The base pair number was estimated by the method of inverse mobility. The cophenetic correlation was 0.8. The accessions had a coefficient of similarity from 30 to 100%, which reflects high genetic variability. Three groups were observed in the UPGMA dendrogram; the first group was formed predominantly by foreign accessions, the second group was formed by Brazilian accessions, and the Dashehari accession was isolated from the others. The 50 microsatellite alleles did not separate all 103 accessions, indicating that there are duplicates in this mango collection. These 12 microsatellites need to be validated in order to establish a reliable set to identify mango cultivars.

  17. Population differentiation in allele frequencies of obesity-associated SNPs.

    Science.gov (United States)

    Mao, Linyong; Fang, Yayin; Campbell, Michael; Southerland, William M

    2017-11-10

    Obesity is emerging as a global health problem, with more than one-third of the world's adult population being overweight or obese. In this study, we investigated worldwide population differentiation in allele frequencies of obesity-associated SNPs (single nucleotide polymorphisms). We collected a total of 225 obesity-associated SNPs from a public database. Their population-level allele frequencies were derived based on the genotype data from 1000 Genomes Project (phase 3). We used hypergeometric model to assess whether the effect allele at a given SNP is significantly enriched or depleted in each of the 26 populations surveyed in the 1000 Genomes Project with respect to the overall pooled population. Our results indicate that 195 out of 225 SNPs (86.7%) possess effect alleles significantly enriched or depleted in at least one of the 26 populations. Populations within the same continental group exhibit similar allele enrichment/depletion patterns whereas inter-continental populations show distinct patterns. Among the 225 SNPs, 15 SNPs cluster in the first intron region of the FTO gene, which is a major gene associated with body-mass index (BMI) and fat mass. African populations exhibit much smaller blocks of LD (linkage disequilibrium) among these15 SNPs while European and Asian populations have larger blocks. To estimate the cumulative effect of all variants associated with obesity, we developed the personal composite genetic risk score for obesity. Our results indicate that the East Asian populations have the lowest averages of the composite risk scores, whereas three European populations have the highest averages. In addition, the population-level average of composite genetic risk scores is significantly correlated (R 2 = 0.35, P = 0.0060) with obesity prevalence. We have detected substantial population differentiation in allele frequencies of obesity-associated SNPs. The results will help elucidate the genetic basis which may contribute to population

  18. Relative Risk of Various Head and Neck Cancers among Different Blood Groups: An Analytical Study

    Science.gov (United States)

    Kote, Sunder; Patthi, Basavaraj; Singla, Ashish; Singh, Shilpi; Kundu, Hansa; Jain, Swati

    2014-01-01

    Background: Cancer is a unique disease characterized by abnormal growth of cells which have the ability to invade the adjacent tissues and sometimes even distant organs. The limited and contrasting evidence regarding the association of ABO blood groups with the different types of head and neck cancers in the Indian population warrants the need for the present study. Aim and Objective: To assess the relative risk of various Head & Neck cancers among different blood groups. Materials and Method: Three hundred sixty two diagnosed cases of different type of head and neck cancers and 400 controls were selected from four hospitals of New Delhi, India. The information regarding the type of head and neck cancer was obtained from the case sheets of the patients regarding their socio demographic profile, dietary history using a structured performa. The information regarding type of cancer (cases only), ABO blood group was collected. Statistical Tests: The data was analysed using the SPSS 19 version. Chi square test and odd ratios were calculated. The level of significance was fixed at 5%. Results: The O blood group was found to be most prevalent followed by B, A and AB among the cases as well as the controls. Oral cancer patients showed maximum number in blood group O followed by B, A and AB. Significant pattern of distribution was seen among the patients of esophageal cancer, laryngeal cancer and salivary gland cancer as well (p= 0.003, p=0.000 p=0.112 respectively. Conclusion: The present study reveals that there is an inherited element in the susceptibility or protection against different types of head and neck cancers. Blood group A was found to be a potential risk factor for the development of oral cancers, esophageal cancers and salivary gland cancers while blood group B was found to be a potential risk factor for laryngeal cancers. PMID:24959511

  19. Relative Risk of Various Head and Neck Cancers among Different Blood Groups: An Analytical Study.

    Science.gov (United States)

    Singh, Khushboo; Kote, Sunder; Patthi, Basavaraj; Singla, Ashish; Singh, Shilpi; Kundu, Hansa; Jain, Swati

    2014-04-01

    Cancer is a unique disease characterized by abnormal growth of cells which have the ability to invade the adjacent tissues and sometimes even distant organs. The limited and contrasting evidence regarding the association of ABO blood groups with the different types of head and neck cancers in the Indian population warrants the need for the present study. To assess the relative risk of various Head & Neck cancers among different blood groups. Three hundred sixty two diagnosed cases of different type of head and neck cancers and 400 controls were selected from four hospitals of New Delhi, India. The information regarding the type of head and neck cancer was obtained from the case sheets of the patients regarding their socio demographic profile, dietary history using a structured performa. The information regarding type of cancer (cases only), ABO blood group was collected. Statistical Tests: The data was analysed using the SPSS 19 version. Chi square test and odd ratios were calculated. The level of significance was fixed at 5%. The O blood group was found to be most prevalent followed by B, A and AB among the cases as well as the controls. Oral cancer patients showed maximum number in blood group O followed by B, A and AB. Significant pattern of distribution was seen among the patients of esophageal cancer, laryngeal cancer and salivary gland cancer as well (p= 0.003, p=0.000 p=0.112 respectively. The present study reveals that there is an inherited element in the susceptibility or protection against different types of head and neck cancers. Blood group A was found to be a potential risk factor for the development of oral cancers, esophageal cancers and salivary gland cancers while blood group B was found to be a potential risk factor for laryngeal cancers.

  20. Evasion of Immunity to Plasmodium falciparum: Rosettes of Blood Group A Impair Recognition of PfEMP1

    Science.gov (United States)

    Moll, Kirsten; Palmkvist, Mia; Ch'ng, Junhong; Kiwuwa, Mpungu Steven; Wahlgren, Mats

    2015-01-01

    The ABO blood group antigens are expressed on erythrocytes but also on endothelial cells, platelets and serum proteins. Notably, the ABO blood group of a malaria patient determines the development of the disease given that blood group O reduces the probability to succumb in severe malaria, compared to individuals of groups A, B or AB. P. falciparum rosetting and sequestration are mediated by PfEMP1, RIFIN and STEVOR, expressed at the surface of the parasitized red blood cell (pRBC). Antibodies to these antigens consequently modify the course of a malaria infection by preventing sequestration and promoting phagocytosis of pRBC. Here we have studied rosetting P. falciparum and present evidence of an immune evasion mechanism not previously recognized. We find the accessibility of antibodies to PfEMP1 at the surface of the pRBC to be reduced when P. falciparum forms rosettes in blood group A RBC, as compared to group O RBC. The pRBC surrounds itself with tightly bound normal RBC that makes PfEMP1 inaccessible to antibodies and clearance by the immune system. Accordingly, pRBC of in vitro cloned P. falciparum devoid of ABO blood group dependent rosetting were equally well detected by anti-PfEMP1 antibodies, independent of the blood group utilized for their propagation. The pathogenic mechanisms underlying the severe forms of malaria may in patients of blood group A depend on the ability of the parasite to mask PfEMP1 from antibody recognition, in so doing evading immune clearance. PMID:26714011

  1. ABO blood group and esophageal carcinoma risk: from a case-control study in Chinese population to meta-analysis.

    Science.gov (United States)

    Wang, Wei; Liu, Lei; Wang, Zhiwei; Lu, Xiaopeng; Wei, Min; Lin, Tianlong; Zhang, Yixin; Jiang, Songqi; Wang, Qiang; Cao, Ziang; Shi, Minxin

    2014-10-01

    The association between ABO blood group and the risk of esophageal carcinoma (EC) in previously published studies is uncertain and conflicting. The aim of the current study was to determine the correlation of ABO blood group with EC risk via a case-control study and meta-analysis. We performed a population-based case-control study of 3,595 cases and 41,788 controls in Chinese population to evaluate the association between ABO blood group and EC risk. Then, a comprehensive meta-analysis combining our original data and previously published data was conducted to clearly discern the real relationship. The strength of association was measured by odds ratios (ORs) with 95% confidence intervals (CI). In our case-control study, the risk of EC in blood group B was significantly higher than that in non-B groups (A, O, and AB) (OR = 1.15, 95% CI 1.09-1.21). Compared with non-O groups (A, B, and AB), individuals with blood group O demonstrated a reduced risk of EC (OR = 0.90, 95% CI 0.85-0.94). The meta-analysis also indicated that blood group B was associated with significantly higher EC risk (OR = 1.20, 95% CI 1.10-1.31), and people with blood group O had a decreased EC risk (OR = 0.94, 95% CI 0.90-0.99). Neither the case-control study nor the meta-analysis produced any significant association of blood group A or AB with EC risk. Results from our case-control study and the followed meta-analysis confirmed that there was an increased risk of EC in blood group B individuals, whereas a decreased risk of EC was observed in blood group O individuals.

  2. Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency)

    NARCIS (Netherlands)

    Linthorst, Gabor E.; Folman, Claudia C.; Aerts, Johannes M. F. G.; Hollak, Carla E. M.

    2003-01-01

    Blood groups B and P1 are substrates for the lysosomal enzyme alpha-galactosidase A. Therefore, patients with alpha-Gal A deficiency and blood groups B or P1 may exhibit more severe disease. In 48 Fabry patients distribution of blood group was not different from that in the Dutch population. No

  3. Awareness and distribution of ABO, Rhesus blood groups and haemoglobin phenotypes among medical undergraduates in a Nigerian university.

    Science.gov (United States)

    Akingbola, T S; Yuguda, S; Akinyemi, O O; Olomu, S

    2016-09-01

    In the past two decades the Nigerian government and religious organisations have put more emphasis on knowing the haemoglobin electrophoresis of school children and intending couples respectively. Knowledge of the distribution of blood groups and haemoglobin electrophoretic patterns among young people is vital for the prevention of haemoglobinopathies in the population and for providing effective blood banking services. Therefore, this study was designed to assess the frequency and awareness of blood group and haemoglobinphenotypes among a new set of fourth year clinical medical and dental students of the University of Ibadan, Nigeria. Data, including socio-demographics, self- reported blood group and haemoglobin phenotypes, were obtained from 155 students using a self-administered questionnaire. The ABO, Rhesus (Rh) blood groups and haemoglobin electrophoresis were determined by the tile (slide) technique and cellulose acetate at alkaline phrespectively. Only 43.9% of the participants knew their blood groups while less than a third (29.7%) knew their haemoglobin phenotypes. knowledge of both their blood groups and haemoglobin phenotypes was documented in as low as 20.6% of the respondents. The frequency of haemoglobin AA, AS, AC and. CC were 78.0%, 16.8%, 3.9% and 1.3% respectively. Similarly, the distribution of blood groups were: 0 RhD positive - 47.8%;0 RhD negative- 1.9%;ARhD positive- 21.9%; A RhD negative - 1.3%; B RhD positive - 23.2%; B RhD negative -1.3% and AB RhD positive - 2.6%. No participant was AB RhD negative. Participants who bad previously donated blood and those who were females were more likely to know their blood groups and haemoglobin phenotypes respectively (pblood groups and haemoglobin phenotypes among the medical and dental students was poor. Documentation and routine screening for haemoglobinphenotypes as well as blood grouping, accompanied by appropriate counseling should be institutionalised in Nigeriantertiary institutions.

  4. The association of ABO blood groups with extent of coronary atherosclerosis in Croatian patients suffering from chronic coronary artery disease.

    Science.gov (United States)

    Karabuva, Svjetlana; Carević, Vedran; Radić, Mislav; Fabijanić, Damir

    2013-01-01

    The aim of study was to: 1) examine the relationship between ABO blood groups and extent of coronary atherosclerosis in patients with chronic coronary artery disease (CAD), 2) compare ABO blood groups distribution in CAD patients and general population, 3) examine possible differences in traditional risk factors frequency in CAD patients with different ABO blood groups. In the 646 chronic CAD patients (72.4% males) coronary angiograms were scored by quantitative assessment using multiple angiographic scoring system, Traditional risk factors were self reported or measured by standard methods. ABO blood distribution of patients was compared with group of 651 healthy blood donors (74.6% males). Among all ABO blood group patients there was no significant difference between the extent of coronary atherosclerosis with regard to all the three scoring systems: number of affected coronary arteries (P = 0.857), Gensini score (P = 0.818), and number of segments narrowed > 50% (P = 0.781). There was no significant difference in ABO blood group distribution between CAD patients and healthy blood donors. Among CAD patients, men with blood group AB were significantly younger than their pairs with non-AB blood groups (P = 0.008). Among CAD patients with AB blood group, males groups (P = 0.003). No association between ABO blood groups and the extent of coronary atherosclerosis in Croatian CAD patients is observed. Observation that AB blood group might possibly identify Croatian males at risk to develop the premature CAD has to be tested in larger cohort of patients.

  5. ABO blood group phenotypes influence parity specific immunity to Plasmodium falciparum malaria in Malawian women

    NARCIS (Netherlands)

    Senga, Edward; Loscertales, Maria-Paz; Makwakwa, K. E. B.; Liomba, George N.; Dzamalala, Charles; Kazembe, Peter N.; Brabin, Bernard J.

    2007-01-01

    BACKGROUND: Blood group O has been significantly associated with increased placental malaria infection in primiparae and reduced risk of infection in multiparae in the Gambia, an area with markedly seasonal malaria transmission. This study analyses the association between ABO blood group phenotypes

  6. ABO blood groups and risk of deep venous thromboembolism in Chinese Han population from Chaoshan region in South China

    Directory of Open Access Journals (Sweden)

    Min Yu

    2017-04-01

    Full Text Available Objectives: To demonstrate the prevalence of ABO blood groups with deep venous thromboembolism in Chinese Han population. Methods: A retrospective study was conducted between January 2010 and March 2015 in The First Affiliated Hospital of Shantou University Medical College in Chaoshan District of Guangdong Province in South China. Eighty nine patients with confirmed diagnosis of deep venous thromboembolism were included. Frequency of blood groups was determined. Results: Of 89 patients with deep venous thromboembolism, 28 patients had blood group A (31.5%, 28 patients had blood group B (31.5%, 13 patients had blood group AB (14.6%, and 20 patients had blood group O (22.5%. Compared with O blood type, the odds ratios of deep venous thromboembolism for A, B and AB were 2.23 (95% CI, 1.27-3.91, 2.34 (95% CI, 1.34-4.09 and 4.43 (95% CI, 2.24-8.76. Conclusion: There is a higher risk of venous thromboembolism in non-O blood groups than O group.

  7. ABO blood groups and risk of deep venous thromboembolism in Chinese Han population from Chaoshan region in South China.

    Science.gov (United States)

    Yu, Min; Wang, Cantian; Chen, Tingting; Hu, Shuang; Yi, Kaihong; Tan, Xuerui

    2017-04-01

     Objectives: To demonstrate the prevalence of ABO blood groups with deep venous thromboembolism in Chinese Han population. A retrospective study was conducted between January 2010 and March 2015 in The First Affiliated Hospital of Shantou University Medical College in Chaoshan District of Guangdong Province in South China. Eighty nine patients with confirmed diagnosis of deep venous thromboembolism were included. Frequency of blood groups was determined. Results: Of 89 patients with deep venous thromboembolism, 28 patients had blood group A (31.5%), 28 patients had blood group B (31.5%), 13 patients had blood group AB (14.6%), and 20 patients had blood group O (22.5%). Compared with O blood type, the odds ratios of deep venous thromboembolism for A, B and AB were 2.23 (95% CI, 1.27-3.91), 2.34 (95% CI, 1.34-4.09) and  4.43 (95% CI, 2.24-8.76). Conclusion: There is a higher risk of venous thromboembolism in non-O blood groups than O group.

  8. ABO alleles are linked with haplotypes of an erythroid cell-specific regulatory element in intron 1 with a few exceptions attributable to genetic recombination.

    Science.gov (United States)

    Nakajima, T; Sano, R; Takahashi, Y; Watanabe, K; Kubo, R; Kobayashi, M; Takahashi, K; Takeshita, H; Kominato, Y

    2016-01-01

    Recent investigation of transcriptional regulation of the ABO genes has identified a candidate erythroid cell-specific regulatory element, named the +5·8-kb site, in the first intron of ABO. Six haplotypes of the site have been reported previously. The present genetic population study demonstrated that each haplotype was mostly linked with specific ABO alleles with a few exceptions, possibly as a result of hybrid formation between common ABO alleles. Thus, investigation of these haplotypes could provide a clue to further elucidation of ABO alleles. © 2015 International Society of Blood Transfusion.

  9. Frequencies and ethnic distribution of ABO and RhD blood groups in China: a population-based cross-sectional study.

    Science.gov (United States)

    Liu, Jue; Zhang, Shikun; Wang, Qiaomei; Shen, Haiping; Zhang, Yiping; Liu, Min

    2017-12-03

    ABO and RhD blood groups are key factors affecting blood transfusion safety. The distribution of ABO and RhD blood groups varies globally, but limited data exist for ethnic distributions of these blood groups in Asian populations. We aimed to evaluate the distribution of ABO and RhD blood groups among Chinese ethnic groups. A population-based cross-sectional study. Data on ABO groups and ethnicities were obtained from the National Free Preconception Health Examination Project (NFPHEP) with participants from 220 counties of 31 provinces in China PARTICIPANTS: There were 3 832 034 participants aged 21-49 years who took part in the NFPHEP from January 2010 to December 2012 and were included in this study. The proportion of ABO and RhD blood groups among different ethnic groups was calculated. ABO and RhD blood distribution was significantly different among nine ethnic groups (Pgroups, the Yi group had more A phenotypes (34.0%), and the Manchu (33.7%) and Mongolian (33.3%) ethnic groups had more B phenotypes. The Zhuang group had the greatest proportion of O phenotypes (41.8%), followed by the Miao group (37.7%). AB phenotypes were more frequent in the Uygur ethnic group (10.6%) but lower in the Zhuang group (5.5%). Meanwhile, RhD negativity (RhD-) was greater in the Uygur group (3.3%) than in the Mongolian (0.3%) and Manchu ethnic groups (0.4%). O RhD- blood groups were more frequent in the Uygur group (0.8%) than in the other ethnic groups (0.1%-0.4%, Pblood phenotypes vary across different ethnic groups in China. The diversity in the distribution of the ABO and RhD blood groups in different ethnic groups should be considered when developing rational and evidence-based strategies for blood collection and management. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  10. Identification of Ppd-B1 alleles in common wheat cultivars by CAPS marker.

    Science.gov (United States)

    Okoń, S; Kowalczyk, K; Miazga, D

    2012-05-01

    Photoperiod response is a major determinant of the duration of growth stages in common wheat. In common wheat, many genes play a role in determining flowering time, but the Ppd genes located on the homoeologous group 2 play a major role. Of these Ppd-B1 is located on the short arm of 2B. In 107 common wheat cultivars grown in Poland and neighboring countries, the identification of Ppd-B1 alleles using in-del analysis by using a CAPS markers was investigated. 87 cultivars were shown to carry dominant Ppd-B1 alleles. This shows that Ppd-B1 alleles is have been widely used in common wheat breeding programme in these countries. Recessive ppd-B1 alleles were found only in 20 cultivars (12 Polish, 5 former Soviet Union, 2 German, 1 Swedish).

  11. Prenatal typing of Rh and Kell blood group system antigens: The edge of a watershed

    NARCIS (Netherlands)

    van der Schoot, C. Ellen; Tax, G. H. Martine; Rijnders, Robbert J. P.; de Haas, Masja; Christiaens, Godelieve C. M. L.

    2003-01-01

    Knowledge of the molecular basis of the blood group systems has enabled the development of assays for blood group genotyping. At this time, polymerase chain reaction (PCR)-based assays validated on fetal material obtained by invasive means (chorionic villus sampling or amniocentesis) are available

  12. Results of exchange transfusions in newborns without blood group incompatibility

    Directory of Open Access Journals (Sweden)

    Servet Yel

    2013-01-01

    Full Text Available Objective: Hyperbilirubinemia is a common problem ofneonatal period that has high morbidity and mortality.Blood exchange is the most effective and urgent treatmentmodality for very high bilirubin levels that can lead toneurotoxicity called as kernicterus. The aim of this studywas to compare 90 minutes exchange transfusion withthat of 120 minutes.Methods: This study was performed at Dicle UniversityMedical Faculty, Neonatal Unit between July 2007 andJune 2008. A total of 36 term newborn (38 - 42 gestationalweek without blood group incompatibility and withtotal serum bilirubin levels over 25 mg/dl were included.Newborns were randomly assigned in two groups eachof them comprise 18 babies as Group 1 underwent 90minute-exchange and Group 2 120 minute. Effectivenessand complications of exchange transfusion were recorded.Newborns with Rh, ABO or subgroup incompatibilities,prematurity or small for gestational age, septicemia,hypothyroidism, G6PD enzyme deficiency, intrauterineinfections, diabetic mother’s baby, hemolytic disease ormetabolic diseases were excluded.Results: There were no significant differences in thebody weight, gestational age, postnatal age, age of mother,total bilirubin and albumin levels, the number of bloodexchange, hospital stay days and complications betweentwo groups (p>0.05. However, mean phototherapy durationwas significantly shorter in 120 minutes transfusiongroup compared with 90 minutes group (p<0.001.Conclusion: Our results indicated that 90 minutes wassufficient for an effective exchange transfusion in severehyperbilirubinemic newborn infants. However longer exchangetransfusion durations may shorten the duration ofphototherapy.Key words: Indirect hyperbilirubinemia, exchange transfusion,newborns, outcome

  13. Detection of rare blood group, Bombay (Oh) phenotype patients and management by acute normovolemic hemodilution.

    Science.gov (United States)

    Shrivastava, Manisha; Navaid, Seema; Peethambarakshan, A; Agrawal, Kalpana; Khan, Athar

    2015-01-01

    Due to lack of correct blood grouping practices, the rare Bombay Oh phenotype may be missed, subjecting patients to the risk of severe hemolytic transfusion reaction. In the absence of blood donor registry, transfusion management of patients needing immediate surgery is a challenge. This study presents detection of rare Bombay Oh phenotype patients and their management by acute peri-operative acute normovolemic hemodilution (ANH) in a hospital from central India. Blood grouping of patients and blood donors with a standard tube method was carried out and samples identified as rare Bombay phenotype were confirmed by saliva inhibition test. Surgical management of cases needing transfusion was done by ANH, as per the British Committee for Standards in Hematology guidelines. The incidence of Bombay phenotype was 0.002% or 1 in 51,924 in the study. Amongst three cases (patients) identified as Bombay phenotype, one was Bombay Oh, Rh negative. Two cases were missed in the first instance and one case actually did not require transfusion. In the absence of a blood donor registry for Bombay phenotype, the cases needing transfusion were successfully managed with ANH in the operation theatre. A simple test like blood grouping should be done with serious intention with incorporation of both forward and reverse grouping, so that no patient receives wrong blood leading to fatal hemolysis due to transfusion. ANH is a cost-effective transfusion option for suitable patients. Appropriate clinical decision making, use of strategies to decrease peri-operative blood losses and cost-effective country based planning could be more widely applied to improve clinical transfusion practice.

  14. Comparison of Lip Print Patterns in Two Indian Subpopulations and Its Correlation in ABO Blood Groups.

    Science.gov (United States)

    Sr, Ashwinirani; Suragimath, Girish; Sande, Abhijeet R; Kulkarni, Prasad; Nimbal, Anand; Shankar, T; Gowd, T Snigdha; Shetty, Prajwal K

    2014-10-01

    The study of lip-print pattern (cheiloscopy) is a scientific method for personal identification and plays a major role in forensic and criminal investigations. To compare the lip print patterns in Kerala and Maharashtra population and correlate between ABO blood groups. Two hundred subjects, 100 from Maharashtra and 100 from Kerala were considered for the study. Lip prints were recorded, analyzed according to Tsuchihashi classification. The lip print patterns were compared in the two populations, correlated in ABO blood groups. The data obtained was statistically analyzed with SPSS software using chi-square test. In our study, predominant lip print pattern observed in Kerala population was type IV (53%) and Maharashtra population was type II (42%). The difference between the two population was statistically significant (pblood groups had type II lip print predominance. Subjects with B+, AB+ and O+ blood groups had type IV predominance. The lip print patterns do not show any correlation in ABO blood groups. Lip prints are unique to each individual and are different even in two persons. Lip print patterns were different in the two sub populations studied, and they showed no correlation in ABO blood groups.

  15. AllelicImbalance: An R/ bioconductor package for detecting, managing, and visualizing allele expression imbalance data from RNA sequencing

    DEFF Research Database (Denmark)

    Gådin, Jesper R.; van't Hooft, Ferdinand M.; Eriksson, Per

    2015-01-01

    the possible biases. Results: We present AllelicImblance, a software program that is designed to detect, manage, and visualize allelic imbalances comprehensively. The purpose of this software is to allow users to pose genetic questions in any RNA sequencing experiment quickly, enhancing the general utility...... of RNA sequencing. The visualization features can reveal notable, non-trivial allelic imbalance behavior over specific regions, such as exons. Conclusions: The software provides a complete framework to perform allelic imbalance analyses of aligned RNA sequencing data, from detection to visualization...

  16. Genetic structure, diversity, and allelic richness in composite collection and reference set in chickpea (Cicer arietinum L.

    Directory of Open Access Journals (Sweden)

    Gowda Cholenahalli LL

    2008-10-01

    Full Text Available Abstract Background Plant genetic resources (PGR are the basic raw materials for future genetic progress and an insurance against unforeseen threats to agricultural production. An extensive characterization of PGR provides an opportunity to dissect structure, mine allelic variations, and identify diverse accessions for crop improvement. The Generation Challenge Program http://www.generationcp.org conceptualized the development of "composite collections" and extraction of "reference sets" from these for more efficient tapping of global crop-related genetic resources. In this study, we report the genetic structure, diversity and allelic richness in a composite collection of chickpea using SSR markers, and formation of a reference set of 300 accessions. Results The 48 SSR markers detected 1683 alleles in 2915 accessions, of which, 935 were considered rare, 720 common and 28 most frequent. The alleles per locus ranged from 14 to 67, averaged 35, and the polymorphic information content was from 0.467 to 0.974, averaged 0.854. Marker polymorphism varied between groups of accessions in the composite collection and reference set. A number of group-specific alleles were detected: 104 in Kabuli, 297 in desi, and 69 in wild Cicer; 114 each in Mediterranean and West Asia (WA, 117 in South and South East Asia (SSEA, and 10 in African region accessions. Desi and kabuli shared 436 alleles, while wild Cicer shared 17 and 16 alleles with desi and kabuli, respectively. The accessions from SSEA and WA shared 74 alleles, while those from Mediterranean 38 and 33 alleles with WA and SSEA, respectively. Desi chickpea contained a higher proportion of rare alleles (53% than kabuli (46%, while wild Cicer accessions were devoid of rare alleles. A genotype-based reference set captured 1315 (78% of the 1683 composite collection alleles of which 463 were rare, 826 common, and 26 the most frequent alleles. The neighbour-joining tree diagram of this reference set represents

  17. Estimated allele substitution effects underlying genomic evaluation models depend on the scaling of allele counts

    NARCIS (Netherlands)

    Bouwman, Aniek C.; Hayes, Ben J.; Calus, Mario P.L.

    2017-01-01

    Background: Genomic evaluation is used to predict direct genomic values (DGV) for selection candidates in breeding programs, but also to estimate allele substitution effects (ASE) of single nucleotide polymorphisms (SNPs). Scaling of allele counts influences the estimated ASE, because scaling of

  18. Duffy blood group system and the malaria adaptation process in humans

    Directory of Open Access Journals (Sweden)

    Gledson Barbosa de Carvalho

    2011-02-01

    Full Text Available Malaria is an acute infectious disease caused by the protozoa of the genus Plasmodium. The antigens of the Duffy Blood Group System, in addition to incompatibilities in transfusions and hemolytic disease of the newborn, are of great interest in medicine due to their association with the invasion of red blood cells by the parasite Plasmodium vivax. For invasions to occur an interaction between the parasites and antigens of the Duffy Blood Group System is necessary. In Caucasians six antigens are produced by the Duffy locus (Fya, Fyb, F3, F4, F5 and F6. It has been observed that Fy(a-b- individuals are resistant to Plasmodium knowlesi and P. vivax infection, because the invasion requires at least one of these antigens. The P. vivax Duffy Binding Protein (PvDBP is functionally important in the invasion process of these parasites in Duffy / DARC positive humans. The proteins or fractions may be considered, therefore, an important and potential inoculum to be used in immunization against malaria.

  19. Stress-related methylation of the catechol-O-methyltransferase Val 158 allele predicts human prefrontal cognition and activity.

    Science.gov (United States)

    Ursini, Gianluca; Bollati, Valentina; Fazio, Leonardo; Porcelli, Annamaria; Iacovelli, Luisa; Catalani, Assia; Sinibaldi, Lorenzo; Gelao, Barbara; Romano, Raffaella; Rampino, Antonio; Taurisano, Paolo; Mancini, Marina; Di Giorgio, Annabella; Popolizio, Teresa; Baccarelli, Andrea; De Blasi, Antonio; Blasi, Giuseppe; Bertolino, Alessandro

    2011-05-04

    DNA methylation at CpG dinucleotides is associated with gene silencing, stress, and memory. The catechol-O-methyltransferase (COMT) Val(158) allele in rs4680 is associated with differential enzyme activity, stress responsivity, and prefrontal activity during working memory (WM), and it creates a CpG dinucleotide. We report that methylation of the Val(158) allele measured from peripheral blood mononuclear cells (PBMCs) of Val/Val humans is associated negatively with lifetime stress and positively with WM performance; it interacts with stress to modulate prefrontal activity during WM, such that greater stress and lower methylation are related to reduced cortical efficiency; and it is inversely related to mRNA expression and protein levels, potentially explaining the in vivo effects. Finally, methylation of COMT in prefrontal cortex and that in PBMCs of rats are correlated. The relationship of methylation of the COMT Val(158) allele with stress, gene expression, WM performance, and related brain activity suggests that stress-related methylation is associated with silencing of the gene, which partially compensates the physiological role of the high-activity Val allele in prefrontal cognition and activity. Moreover, these results demonstrate how stress-related DNA methylation of specific functional alleles impacts directly on human brain physiology beyond sequence variation.

  20. Prevalence of hemoglobinopathy, ABO and rhesus blood groups in rural areas of West Bengal, India.

    Science.gov (United States)

    Mondal, Bikash; Maiti, Soumyajit; Biswas, Biplab Kumar; Ghosh, Debidas; Paul, Shyamapada

    2012-08-01

    Hemoglobinopathies are a group of inherited disorders of hemoglobin synthesis. It could be formed a fatal scenario in concern of lacking of actual information. Beside this, ABO and Rh blood grouping are also important matter in transfusion and forensic medicine and to reduce new born hemolytic disease (NHD). The spectrum and prevalence of various hemoglobinopathies, ABO and rhesus (Rh) blood groups was screened among patients who visited B.S. Medical College and Hospital, Bankura, West Bengal, India. This study was carried out on 958 patients of different ages ranging from child to adults from January to June 2011. High-performance liquid chromatography (HPLC), complete blood count (CBC) and hemagglutination technique were performed for the assessment of abnormal hemoglobin variants, ABO and Rh blood groups, respectively. Results from this study had been shown that there was high prevalence of hemoglobinpathies (27.35%) where β-thalassemia in heterozygous state occurred more frequent than other hemoglobinopathies. Out of 958 patients, 72.65% were HbAA and 27.35% were hemoglobinopathies individuals where 17.64% β-thalassemia heterozygous, 2.92% β-thalassemia homozygous, 3.86% HbAE, 1.15% HbAS trait, 1.25% HbE-β thalassemia trait and 0.52% HbS-β thalassemia trait were found. No incidence of HbSS, HbSC, HbCC, HbD and other variants of hemoglobinpathies were observed. The gene frequencies with respect to ABO systems had been shown as O > B > A > AB. Blood group O was the highest (35.8%) and the least percentage distribution was blood group AB (6.68%). Rhesus positive (Rh+) were 97.7%, while the remaining was 2.3% Rhesus negative (Rh-). The frequencies of A(+), B(+), AB(+,) and O(+) blood groups were 22.44%, 33.61%, 6.58%, and 35.07%, respectively. Remarkable percentages of hemoglobinopathies were prevalent from the present study. An extensive screening of the population is needed to assess the prevalence of hemoglobinopathies, which will help in identification of

  1. Is There a Relation between ABO Blood Groups and Clinical Outcome in Patients with Pemphigoid? A Case-Control Study.

    Science.gov (United States)

    Bakhtiari, Sedigheh; Toosi, Parviz; Azimi, Somayyeh; Esmaili, Nafiseh; Montazami, Ali; Rafieian, Nasrin

    2016-01-01

    Background. Relationship between blood groups and dermatologic diseases remains controversial and was not yet fully elucidated nor explained clearly. The aim of this study was to examine if any relation exists between different types of pemphigoid diseases and ABO blood group. Methods. In this case-control study, 159 pemphigoid patients and 152 healthy matched-controls were evaluated. All blood group (including Rh status) data for the study was obtained from the hospital medical records. Statistical comparisons were completed with chi-square test and logistic regression. Results. Blood group "O" was found in 32.9% of patients and 38.2% of control group. Blood group "A" was found among 30.8% of patients and 34.2% of control group, while group "B" was reported in 27.4% of cases and 21.1% of controls and "AB" was identified among 8.9% of patients and 6.6% of control group. 84.9% of patients were Rh positive, while in the control group 86.2% of patients were Rh positive. No significant differences were found regarding ABO blood groups (P = 0.46) or Rh (P = 0.76) between pemphigoid patients and control group. Also, older females had the higher risk of developing bullous pemphigoid. Conclusion. We found no relationship between ABO blood groups and pemphigoid disease.

  2. Evaluation of the Secretor Status of ABO Blood Group Antigens in Saliva among Southern Rajasthan Population Using Absorption Inhibition Method.

    Science.gov (United States)

    Metgud, Rashmi; Khajuria, Nidhi; Mamta; Ramesh, Gayathri

    2016-02-01

    The ABO blood group system was the significant element for forensic serological examination of blood and body fluids in the past before the wide adaptation of DNA typing. A significant proportion of individuals (80%) are secretors, meaning that antigens present in the blood are also found in other body fluids such as saliva. Absorption inhibition is one such method that works by reducing strength of an antiserum based on type and amount of antigen present in the stains. To check the efficacy of identifying the blood group antigens in saliva and to know the secretor status using absorption inhibition method among southern Rajasthan population. Blood and saliva samples were collected from 80 individuals comprising 20 individuals in each blood group. The absorption inhibition method was used to determine the blood group antigens in the saliva and then the results were correlated with the blood group of the collected blood sample. The compiled data was statistically analysed using chi-square test. Blood groups A & O revealed 100% secretor status for both males and females. While blood groups B and AB revealed 95% secretor status. Secretor status evaluation of the ABO blood group antigen in saliva using absorption inhibition method can be a useful tool in forensic examination.

  3. Miltenberger blood group typing by real-time polymerase chain reaction (qPCR) melting curve analysis in Thai population.

    Science.gov (United States)

    Vongsakulyanon, A; Kitpoka, P; Kunakorn, M; Srikhirin, T

    2015-12-01

    To develop reliable and convenient methods for Miltenberger (Mi(a) ) blood group typing. To apply real-time polymerase chain reaction (qPCR) melting curve analysis to Mi(a) blood group typing. The Mi(a) blood group is the collective set of glycophorin hybrids in the MNS blood group system. Mi(a+) blood is common among East Asians and is also found in the Thai population. Incompatible Mi(a) blood transfusions pose the risk of life-threatening haemolysis; therefore, Mi(a) blood group typing is necessary in ethnicities where the Mi(a) blood group is prevalent. One hundred and forty-three blood samples from Thai blood donors were used in the study. The samples included 50 Mi(a+) samples and 93 Mi(a-) samples, which were defined by serology. The samples were typed by Mi(a) typing qPCR, and 50 Mi(a+) samples were sequenced to identify the Mi(a) subtypes. Mi(a) subtyping qPCR was performed to define GP.Mur. Both Mi(a) typing and Mi(a) subtyping were tested on a conventional PCR platform. The results of Mi(a) typing qPCR were all concordant with serology. Sequencing of the 50 Mi(a+) samples revealed 47 GP.Mur samples and 3 GP.Hop or Bun samples. Mi(a) subtyping qPCR was the supplementary test used to further define GP.Mur from other Mi(a) subtypes. Both Mi(a) typing and Mi(a) subtyping performed well using a conventional PCR platform. Mi(a) typing qPCR correctly identified Mi(a) blood groups in a Thai population with the feasibility of Mi(a) subtype discrimination, and Mi(a) subtyping qPCR was able to further define GP.Mur from other Mi(a) subtypes. © 2015 British Blood Transfusion Society.

  4. Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care

    DEFF Research Database (Denmark)

    Clausen, Frederik Banch

    2014-01-01

    Incompatibility of red blood cell blood group antigens between a pregnant woman and her fetus can cause maternal immunization and, consequently, hemolytic disease of the fetus and newborn. Noninvasive prenatal testing of cell-free fetal DNA can be used to assess the risk of hemolytic disease...

  5. Detection of rare blood group, Bombay (Oh phenotype patients and management by acute normovolemic hemodilution

    Directory of Open Access Journals (Sweden)

    Manisha Shrivastava

    2015-01-01

    Full Text Available Background: Due to lack of correct blood grouping practices, the rare Bombay Oh phenotype may be missed, subjecting patients to the risk of severe hemolytic transfusion reaction. In the absence of blood donor registry, transfusion management of patients needing immediate surgery is a challenge. This study presents detection of rare Bombay Oh phenotype patients and their management by acute peri-operative acute normovolemic hemodilution (ANH in a hospital from central India. Materials and Methods: Blood grouping of patients and blood donors with a standard tube method was carried out and samples identified as rare Bombay phenotype were confirmed by saliva inhibition test. Surgical management of cases needing transfusion was done by ANH, as per the British Committee for Standards in Hematology guidelines. Results: The incidence of Bombay phenotype was 0.002% or 1 in 51,924 in the study. Amongst three cases (patients identified as Bombay phenotype, one was Bombay Oh, Rh negative. Two cases were missed in the first instance and one case actually did not require transfusion. In the absence of a blood donor registry for Bombay phenotype, the cases needing transfusion were successfully managed with ANH in the operation theatre. Conclusion: A simple test like blood grouping should be done with serious intention with incorporation of both forward and reverse grouping, so that no patient receives wrong blood leading to fatal hemolysis due to transfusion. ANH is a cost-effective transfusion option for suitable patients. Appropriate clinical decision making, use of strategies to decrease peri-operative blood losses and cost-effective country based planning could be more widely applied to improve clinical transfusion practice.

  6. [Erythrocyte blood groups and geographic pathology (author's transl)].

    Science.gov (United States)

    Salmon, C

    1979-01-01

    Blood groups are an obstacle to reproduction, transfusion and transplantation. There are immunological abortions due to the antibodies of "p" phenotype women; and Rh haemolytic disease of the new-born is in direct proportion to the frequency of the "r" gene in a given population; the problem of transfusional allo-immunisation is completely parallel. Certain membrane anomalies (due to exceptional erythrocyte blood groups--Rh null, Rh mod or McLeod, for example), can provoke hemolytic anaemias, but in these cases the subjects are scattered throughout the world. An important problem is that of the relationships between Duffy antigens and malaria: from what is known about plasmodium Knowlesi, Fya and Fyb antigens are related to the erythrocyte receptors for this plasmodium: the Fy(a-b-) red cells, even of exceptional non-blacks, are not infested with parasites. Two kinds of receptors are postulated: one for adherence and another for penetration. In contrast, plasmodium falciparum does not recognise the same receptors as plasmodium Knowlesi. Experiments carried out on man have led to the conclusion that plasmodium vivax also used Fya and Fyb antigens to penetrate the red cell. These recent facts give rise to the problem of a possible natural selection by plasmodium vivax, which would eradicate polymorphism, whilst until now, the facts concerning plasmodium falciparum have explained the balance of polymorphism.

  7. Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

    Energy Technology Data Exchange (ETDEWEB)

    Dobkin, C.S.; Nolin, S.L.; Cohen, I. [NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY (United States)] [and others

    1996-08-09

    The fragile X mutation is diagnosed from the structure of the FMR1 gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both a {open_quotes}full mutation{close_quotes} allele from which there is no gene expression and a {open_quotes}premutation{close_quotes} allele which has normal gene expression. We compared the DNA in blood cells and skin fibroblasts from four mosaic fragile X males to see if there was a difference in the relative amounts of premutation and full mutation alleles within the tissues of these individuals. Two of these males showed striking differences in the ratio of premutation to full mutation in different tissues while the other two showed only slight differences. These observations conform with the widely accepted hypothesis that the fragile X CGG repeat is unstable in somatic tissue during early embryogenesis. Accordingly, the mosaicism in brain and skin, which are both ectodermal in origin, may be similar to each other but different from blood which is not ectodermal in origin. Thus, the ratio of full mutation to premutation allele in skin fibroblasts might be a better indicator of psychological impairment than the ratio in blood cells. 24 refs., 4 figs., 1 tab.

  8. SSR allelic diversity changes in 480 European bread wheat varieties released from 1840 to 2000.

    Science.gov (United States)

    Roussel, V; Leisova, L; Exbrayat, F; Stehno, Z; Balfourier, F

    2005-06-01

    A sample of 480 bread wheat varieties originating from 15 European geographical areas and released from 1840 to 2000 were analysed with a set of 39 microsatellite markers. The total number of alleles ranged from 4 to 40, with an average of 16.4 alleles per locus. When seven successive periods of release were considered, the total number of alleles was quite stable until the 1960s, from which time it regularly decreased. Clustering analysis on Nei's distance matrix between these seven temporal groups showed a clear separation between groups of varieties registered before and after 1970. Analysis of qualitative variation over time in allelic composition of the accessions indicated that, on average, the more recent the European varieties, the more similar they were to each other. However, European accessions appear to be more differentiated as a function of their geographical origin than of their registration period. On average, western European countries (France, The Netherlands, Great Britain, Belgium) displayed a lower number of alleles than southeastern European countries (former Yugoslavia, Greece, Bulgaria, Romania, Hungary) and than the Mediterranean area (Italy, Spain and Portugal), which had a higher number. A hierarchical tree on Nei's distance matrix between the 15 geographical groups of accessions exhibited clear opposition between the geographical areas north and south of the arc formed by the Alps and the Carpathian mountains. These results suggest that diversity in European wheat accessions is not randomly distributed but can be explained both by temporal and geographical variation trends linked to breeding practices and agriculture policies in different countries.

  9. Do ABO blood group antigens hamper the therapeutic efficacy of mesenchymal stromal cells?

    Science.gov (United States)

    Moll, Guido; Hult, Annika; von Bahr, Lena; Alm, Jessica J; Heldring, Nina; Hamad, Osama A; Stenbeck-Funke, Lillemor; Larsson, Stella; Teramura, Yuji; Roelofs, Helene; Nilsson, Bo; Fibbe, Willem E; Olsson, Martin L; Le Blanc, Katarina

    2014-01-01

    Investigation into predictors for treatment outcome is essential to improve the clinical efficacy of therapeutic multipotent mesenchymal stromal cells (MSCs). We therefore studied the possible harmful impact of immunogenic ABO blood groups antigens - genetically governed antigenic determinants - at all given steps of MSC-therapy, from cell isolation and preparation for clinical use, to final recipient outcome. We found that clinical MSCs do not inherently express or upregulate ABO blood group antigens after inflammatory challenge or in vitro differentiation. Although antigen adsorption from standard culture supplements was minimal, MSCs adsorbed small quantities of ABO antigen from fresh human AB plasma (ABP), dependent on antigen concentration and adsorption time. Compared to cells washed in non-immunogenic human serum albumin (HSA), MSCs washed with ABP elicited stronger blood responses after exposure to blood from healthy O donors in vitro, containing high titers of ABO antibodies. Clinical evaluation of hematopoietic stem cell transplant (HSCT) recipients found only very low titers of anti-A/B agglutination in these strongly immunocompromised patients at the time of MSC treatment. Patient analysis revealed a trend for lower clinical response in blood group O recipients treated with ABP-exposed MSC products, but not with HSA-exposed products. We conclude, that clinical grade MSCs are ABO-neutral, but the ABP used for washing and infusion of MSCs can contaminate the cells with immunogenic ABO substance and should therefore be substituted by non-immunogenic HSA, particularly when cells are given to immunocompentent individuals.

  10. Association of ABO and Rh blood group types to hepatitis B, hepatitis C, HIV and syphillis infection, a five year experience in healthy blood donors in a tertiary care hospital

    International Nuclear Information System (INIS)

    Batool, Z.; Durrani, S.H.; Tariq, S.

    2017-01-01

    Aim of the study: The aim of the study was to find out the frequency of Hepatitis B Hepatitis C, Syphilis, HIV and malaria in apparently healthy blood donors and to find out any association between ABO and Rh blood groups. Methods: It was a descriptive study carried out at Rehman Medical Institute laboratory. All blood donors who volunteered for blood donation from Jan 2008 to Dec 2014 were reviewed for blood groups and screening tests. Those who were eligible were then screened for Hepatitis B, Hepatitis C, HIV, syphilis and malaria on Architect 8200i through chemiluminescent immunoassay whereas malaria was screened by a thin film. Blood group was determined by both forward and reverse grouping. Statistical analysis was carried out using SPSS software and expressed as frequencies. Results: A total of 41033 apparently healthy donors were included in the study. All of them were voluntary donors. Their age ranged from 18-70 years with a mean age of 38+-10.5 years. Out of these 41033, 40245 (98.3%) were males and 788(1.9%) were females. The most frequent blood group was B positive followed by O positive. Out of 41033 donors 961 (2.30%) had Hepatitis B, 566 (1.30%) had Hepatitis C, 363 (0.90%) had syphilis, 311 (0.76%) had malaria and 30 (0.07%) had HIV. There is a significant association between A blood group and HIV and hepatitis B. Donors with blood group O had no significant association with any blood transmitted infection. Conclusion: Blood group O may have some influence in protecting against blood transmitted infection. People having Blood group A are more prone to get Hepatitis B and HIV. (author)

  11. A polymorphism in AGT and AGTR1 gene is associated with lead-related high blood pressure.

    Science.gov (United States)

    Kim, Hyung-Ki; Lee, Hwayoung; Kwon, Jun-Tack; Kim, Hak-Jae

    2015-12-01

    We investigated the association of polymorphisms in two renin-angiotensin system-related genes, expressed as angiotensinogen (AGT) and angiotensin II type 1 receptor (AGTR1), with blood lead levels and lead-related blood pressure in lead-exposed male workers in Korea. A cross-sectional study involving 808 lead-exposed male workers in Korea was conducted using a restriction fragment length polymorphism-based strategy to differentiate the various genotypes of polymorphisms in the AGT and AGTR1 genes. The association of clinical characteristics with genotypes as modifiers was estimated after adjustment for age, smoking status, drinking status, body mass index and job duration of each subject. Genotype and allele frequencies of the M235T polymorphism in AGT were associated with lead-related high blood pressure status. Moreover, blood lead levels were associated with allele frequencies of the AGT M235T polymorphism. These results suggested that the M/M genotype and M allele of AGT are risk factors for lead-related high blood pressure. © The Author(s) 2014.

  12. Immune Desensitization Allows Pediatric Blood Group Incompatible Kidney Transplantation.

    Science.gov (United States)

    Stojanovic, Jelena; Adamusiak, Anna; Kessaris, Nicos; Chandak, Pankaj; Ahmed, Zubir; Sebire, Neil J; Walsh, Grainne; Jones, Helen E; Marks, Stephen D; Mamode, Nizam

    2017-06-01

    Blood group incompatible transplantation (ABOi) in children is rare as pretransplant conditioning remains challenging and concerns persist about the potential increased risk of rejection. We describe the results of 11 ABOi pediatric renal transplant recipients in the 2 largest centers in the United Kingdom, sharing the same tailored desensitization protocol. Patients with pretransplant titers of 1 or more in 8 received rituximab 1 month before transplant; tacrolimus and mycophenolate mofetil were started 1 week before surgery. Antibody removal was performed to reduce titers to 1 or less in 8 on the day of the operation. No routine postoperative antibody removal was performed. Death-censored graft survival at last follow-up was 100% in the ABOi and 98% in 50 compatible pediatric transplants. One patient developed grade 2A rejection successfully treated with antithymocyte globulin. Another patient had a titer rise of 2 dilutions treated with 1 immunoadsorption session. There was no histological evidence of rejection in the other 9 patients. One patient developed cytomegalovirus and BK and 2 others EBV and BK viremia. Tailored desensitization in pediatric blood group incompatible kidney transplantation results in excellent outcomes with graft survival and rejection rates comparable with compatible transplants.

  13. [Cloning and sequencing of KIR2DL1 framework gene cDNA and identification of a novel allele].

    Science.gov (United States)

    Sun, Ge; Wang, Chang; Zhen, Jianxin; Zhang, Guobin; Xu, Yunping; Deng, Zhihui

    2016-10-01

    To develop an assay for cDNA cloning and haplotype sequencing of KIR2DL1 framework gene and determine the genotype of an ethnic Han from southern China. Total RNA was isolated from peripheral blood sample, and complementary DNA (cDNA) transcript was synthesized by RT-PCR. The entire coding sequence of the KIR2DL1 framework gene was amplified with a pair of KIR2DL1-specific PCR primers. The PCR products with a length of approximately 1.2 kb were then subjected to cloning and haplotype sequencing. A specific target fragment of the KIR2DL1 framework gene was obtained. Following allele separation, a wild-type KIR2DL1*00302 allele and a novel variant allele, KIR2DL1*031, were identified. Sequence alignment with KIR2DL1 alleles from the IPD-KIR Database showed that the novel allele KIR2DL1*031 has differed from the closest allele KIR2DL1*00302 by a non-synonymous mutation at CDS nt 188A>G (codon 42 GAG>GGG) in exon 4, which has caused an amino acid change Glu42Gly. The sequence of the novel allele KIR2DL1*031 was submitted to GenBank under the accession number KP025960 and to the IPD-KIR Database under the submission number IWS40001982. A name KIR2DL1*031 has been officially assigned by the World Health Organization (WHO) Nomenclature Committee. An assay for cDNA cloning and haplotype sequencing of KIR2DL1 has been established, which has a broad applications in KIR studies at allelic level.

  14. Prevalence of hemoglobinopathy, ABO and rhesus blood groups in rural areas of West Bengal, India

    OpenAIRE

    Bikash Mondal; Soumyajit Maiti; Biplab Kumar Biswas; Debidas Ghosh; Shyamapada Paul

    2012-01-01

    Background: Hemoglobinopathies are a group of inherited disorders of hemoglobin synthesis. It could be formed a fatal scenario in concern of lacking of actual information. Beside this, ABO and Rh blood grouping are also important matter in transfusion and forensic medicine and to reduce new born hemolytic disease (NHD). Materials and Methods: The spectrum and prevalence of various hemoglobinopathies, ABO and rhesus (Rh) blood groups was screened among patients who visited B.S. Medical College...

  15. Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease.

    Science.gov (United States)

    Casas, Jessica; Friedman, David F; Jackson, Tannoa; Vege, Sunitha; Westhoff, Connie M; Chou, Stella T

    2015-06-01

    Extended red blood cell (RBC) antigen matching is recommended to limit alloimmunization in patients with sickle cell disease (SCD). DNA-based testing to predict blood group phenotypes has enhanced availability of antigen-negative donor units and improved typing of transfused patients, but replacement of routine serologic typing for non-ABO antigens with molecular typing for patients has not been reported. This study compared the historical RBC antigen phenotypes obtained by hemagglutination methods with genotype predictions in 494 patients with SCD. For discrepant results, repeat serologic testing was performed and/or investigated by gene sequencing for silent or variant alleles. Seventy-one typing discrepancies were identified among 6360 antigen comparisons (1.1%). New specimens for repeat serologic testing were obtained for 66 discrepancies and retyping agreed with the genotype in 64 cases. One repeat Jk(b-) serologic phenotype, predicted Jk(b+) by genotype, was found by direct sequencing of JK to be a silenced allele, and one N typing discrepancy remains under investigation. Fifteen false-negative serologic results were associated with alleles encoding weak antigens or single-dose Fy(b) expression. DNA-based RBC typing provided improved accuracy and expanded information on RBC antigens compared to hemagglutination methods, leading to its implementation as the primary method for extended RBC typing for patients with SCD at our institution. © 2015 AABB.

  16. Red cell antigen prevalence predicted by molecular testing in ethnic groups of South Texas blood donors.

    Science.gov (United States)

    Aranda, Lorena I; Smith, Linda A; Jones, Scott; Beddard, Rachel

    2015-01-01

    Alloimmunization to red blood cell antigens is seen in patients receiving chronic blood transfusion. Knowing the prevalence of blood group antigens of the different ethnicities of South Texas donors can provide better management of rare blood inventory for patients in this geographical area. A total of 4369 blood donors were tested and analyzed for various antigens in the following blood group systems: ABO, Rh, Kell, Duffy, Kidd, MNS, Lutheran, Dombrock, Landsteiner-Wiener, Diego, Colton, and Scianna. Donors tested to be group 0 or A were serologically tested for the Rh (C, E, c, e) antigens. Those that tested as presumably R1R1, R2R2, or Ror were then genotyped. Donors constituted three major ethnicities: black (18.3%), Hispanic (36.3%), and Caucasian (41.1%); ethnicities comprised of Asian, American Indian, multiracial, and other accounted for the remaining donors (4.3%). The most likely common Rh phenotype for each ethnicity is as follows: black -Ror (44.4%), Hispanic -R1R1 (59.0%), and Caucasian -R1R1 (38.9%). The prevalence of Kell, Duffy, and Kidd blood group system antigens in black and Caucasian donors is comparable with published reports for the entire U.S. The black South Texas donor population had an 8.8 percent increase in prevalence of the Fy(a+b-) phenotype as compared with these published reports; the Hispanic South Texas donor population had a prevalence of 36.1 percent of the Fy(a+b-) phenotype. Regarding the Diego blood group system, the Hispanic donor population in South Texas had a prevalence of 93.5 percent for the Di(a-b+) phenotype as compared with published reports for the entire U.S. (>99.9%). The Hispanic population had a prevalence of 7.9 percent of donors testing as M-N+S-s+ as compared with 20.2 percent and 15.6 percent for black and Caucasian donors, respectively. This study helped us determine the prevalence of each of the blood group antigens in the South Texas donor population to establish and maintain adequate rare inventory of

  17. Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi.

    Directory of Open Access Journals (Sweden)

    Yusuke Ohnishi

    Full Text Available Allele-specific gene silencing by RNA interference (RNAi is therapeutically useful for specifically inhibiting the expression of disease-associated alleles without suppressing the expression of corresponding wild-type alleles. To realize such allele-specific RNAi (ASP-RNAi, the design and assessment of small interfering RNA (siRNA duplexes conferring ASP-RNAi is vital; however, it is also difficult. In a previous study, we developed an assay system to assess ASP-RNAi with mutant and wild-type reporter alleles encoding the Photinus and Renilla luciferase genes. In line with experiments using the system, we realized that it is necessary and important to enhance allele discrimination between mutant and corresponding wild-type alleles. Here, we describe the improvement of ASP-RNAi against mutant alleles carrying single nucleotide variations by introducing base substitutions into siRNA sequences, where original variations are present in the central position. Artificially mismatched siRNAs or short-hairpin RNAs (shRNAs against mutant alleles of the human Prion Protein (PRNP gene, which appear to be associated with susceptibility to prion diseases, were examined using this assessment system. The data indicates that introduction of a one-base mismatch into the siRNAs and shRNAs was able to enhance discrimination between the mutant and wild-type alleles. Interestingly, the introduced mismatches that conferred marked improvement in ASP-RNAi, appeared to be largely present in the guide siRNA elements, corresponding to the 'seed region' of microRNAs. Due to the essential role of the 'seed region' of microRNAs in their association with target RNAs, it is conceivable that disruption of the base-pairing interactions in the corresponding seed region, as well as the central position (involved in cleavage of target RNAs, of guide siRNA elements could influence allele discrimination. In addition, we also suggest that nucleotide mismatches at the 3'-ends of sense

  18. Prevalence of hemoglobinopathy, ABO and rhesus blood groups in rural areas of West Bengal, India

    Directory of Open Access Journals (Sweden)

    Bikash Mondal

    2012-01-01

    Full Text Available Background: Hemoglobinopathies are a group of inherited disorders of hemoglobin synthesis. It could be formed a fatal scenario in concern of lacking of actual information. Beside this, ABO and Rh blood grouping are also important matter in transfusion and forensic medicine and to reduce new born hemolytic disease (NHD. Materials and Methods: The spectrum and prevalence of various hemoglobinopathies, ABO and rhesus (Rh blood groups was screened among patients who visited B.S. Medical College and Hospital, Bankura, West Bengal, India. This study was carried out on 958 patients of different ages ranging from child to adults from January to June 2011. High-performance liquid chromatography (HPLC, complete blood count (CBC and hemagglutination technique were performed for the assessment of abnormal hemoglobin variants, ABO and Rh blood groups, respectively. Results: Results from this study had been shown that there was high prevalence of hemoglobinpathies (27.35% where β-thalassemia in heterozygous state occurred more frequent than other hemoglobinopathies. Out of 958 patients, 72.65% were HbAA and 27.35% were hemoglobinopathies individuals where 17.64% β-thalassemia heterozygous, 2.92% β-thalassemia homozygous, 3.86% HbAE, 1.15% HbAS trait, 1.25% HbE-β thalassemia trait and 0.52% HbS-β thalassemia trait were found. No incidence of HbSS, HbSC, HbCC, HbD and other variants of hemoglobinpathies were observed. The gene frequencies with respect to ABO systems had been shown as O > B > A > AB. Blood group O was the highest (35.8% and the least percentage distribution was blood group AB (6.68%. Rhesus positive (Rh+ were 97.7%, while the remaining was 2.3% Rhesus negative (Rh-. The frequencies of A + , B + , AB +, and O + blood groups were 22.44%, 33.61%, 6.58%, and 35.07%, respectively. Conclusions: Remarkable percentages of hemoglobinopathies were prevalent from the present study. An extensive screening of the population is needed to assess the

  19. The relationship between oral Candida carriage and the secretor status of blood group antigens in saliva.

    Science.gov (United States)

    Shin, Eun-Seop; Chung, Sung-Chang; Kim, Young-Ku; Lee, Sung-Woo; Kho, Hong-Seop

    2003-07-01

    The aim of the study was to investigate the relationship between oral Candida carriage and the secretor status of blood group antigens. Unstimulated whole saliva and oral rinse samples were obtained from 180 healthy subjects. These samples were plated on Sabouraud's dextrose agar media to determine oral Candida carriage. Sodium dodecylsulfate polyacrylamide gel electrophoresis and immunoblotting were performed on whole saliva samples to determine the secretor status of blood group antigens. The oral Candida carriage rate was found to be 45.0%. The sensitivity of the concentrated rinse culture proved to be superior. Oral Candida carriage was not significantly related to the blood group or secretor status of ABH or Lewis antigens. No significant relationship was found between oral Candida carriage and salivary flow rate. However, smoking affected oral Candida carriage. Oral Candida carriage in healthy individuals is not significantly related to blood group or secretor status.

  20. Diabetes Support Groups Improve Patient’s Compliance and Control Blood Glucose Levels

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    Zamrotul Izzah

    2013-09-01

    Full Text Available Providing information is not enough to improve diabetic patient’s compliance and achieve goals of therapy. Patient’s good awareness as well as emotional and social supports from family and community may play an important role to improve their compliance and clinical outcomes. Therefore, diabetes support groups were developed and each support group consisted of two pharmacists, two nurses, diabetic patients and their family members. A total of 70 type 2 diabetic patient’s were enrolled and randomized into support group 1 and support group 2. Patients in the group 1 received information leaflets only, while patient in the group 2 received pharmacist counselling and information leaflets at each meeting. Patient’s awareness of diabetes and compliance with medications were assessed by a short questionnaire at baseline and final follow-up. Blood glucose and cholesterol levels were also evaluated in both groups. At the end of study, the overall patient’s awareness and compliance improved by 61.5%. The random and fasting blood glucose levels decreased over than 30% in the group 2 and around 14% in the group 1. This study reveals that collaboration between health care professionals and community in the diabetes support group might help diabetic patients to increase their knowledge and compliance with the diabetes therapy as well as glycaemic control.

  1. Haptoglobin genotyping of Vietnamese: global distribution of HP del, complete deletion allele of the HP gene.

    Science.gov (United States)

    Soejima, Mikiko; Agusa, Tetsuro; Iwata, Hisato; Fujihara, Junko; Kunito, Takashi; Takeshita, Haruo; Lan, Vi Thi Mai; Minh, Tu Binh; Takahashi, Shin; Trang, Pham Thi Kim; Viet, Pham Hung; Tanabe, Shinsuke; Koda, Yoshiro

    2015-01-01

    The haptoglobin (HP) gene deletion allele (HP(del)) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. The distribution of this allele has been explored by several groups including ours. Here, we studied the frequency of HP(del) in addition to the distribution of common HP genotypes in 293 Vietnamese. The HP(del) was encountered with the frequency of 0.020. The present result suggested that this deletion allele is restricted to East and Southeast Asians. Thus, this allele seems to be a potential ancestry informative marker for these populations. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  2. Association of gliadin antibodies, HLA alleles, and schizophrenia in Cuban population patients

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    José A. Galván

    2016-05-01

    Full Text Available Introduction: Several lines of evidence have suggested an interesting link between gluten ingestion and schizophrenia. For example, increased levels of gliadin and transglutaminase antibodies have been observed in patients with schizophrenia. Methods: To verify these observations we compared the prevalence of gliadin and transglutaminse antibodies, as well as the presence of the HLA alleles, HLA DQA1*0501-DQB1*02 (DQ2 and HLA-DQA1*0301-DQB1*0302 (DQ8, among patients with schizophrenia and healthy controls. A total of 108 patients with schizophrenia and 60 healthy controls were evaluated. Gliadin antibodies were determined by a visual semiquantitative assay and tissue transglutaminase antibodies were determined both by one-step immunochromatografic assay and ELISA. HLA typing was performed by PCR amplification using sequence-specific primers for each allele. Results: We found a strong association between the presence of gliadin antibodies and schizophrenia (OR 3.488; 95% CI, 1.43-8.44. However, tissue transglutaminase antibodies were not detected in either group neither by immunochromatograpic or ELISA. No significant association was found for the DQ2 or DQ8 heterodimer and the disease, but a significant positive association between schizophrenia and HLA alleles DQA1*0301 and DQB1*02 was present (OR = 2.80; 95% CI, 1.27-6.17, and OR = 2.37, 95% CI, 1.24-4.53, respectively. Conclusions: The present study showed that the presence of gliadin antibodies was not correlated with the presence of HLA DQA1*0301 or DQB1*02 alleles within the group of patients with schizophrenia. Our study replicates the findings that anti-gliadin antibodies are associated with schizophrenia but also suggests that the presence of these antibodies and the HLA alleles DQB1*02 and DQA1*0301 are independently associated with susceptibility to schizophrenia.

  3. Erythrocyte-bound apolipoprotein B in relation to atherosclerosis, serum lipids and ABO blood group.

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    Boudewijn Klop

    Full Text Available INTRODUCTION: Erythrocytes carry apolipoprotein B on their membrane, but the determining factors of erythrocyte-bound apolipoprotein B (ery-apoB are unknown. We aimed to explore the determinants of ery-apoB to gain more insight into potential mechanisms. METHODS: Subjects with and without CVD were included (N = 398. Ery-apoB was measured on fresh whole blood samples using flow cytometry. Subjects with ery-apoB levels ≤ 0.20 a.u. were considered deficient. Carotid intima media thickness (CIMT was determined as a measure of (subclinical atherosclerosis. RESULTS: Mean ery-apoB value was 23.2% lower in subjects with increased CIMT (0.80 ± 0.09 mm, N = 140 compared to subjects with a normal CIMT (0.57 ± 0.08 mm, N = 258 (P = 0.007, adjusted P<0.001. CIMT and ery-apoB were inversely correlated (Spearman's r: -0.116, P = 0.021. A total of 55 subjects (13.6% were considered ery-apoB deficient, which was associated with a medical history of CVD (OR: 1.86, 95% CI 1.04-3.33; adjusted OR: 1.55; 95% CI 0.85-2.82. Discontinuation of statins in 54 subjects did not influence ery-apoB values despite a 58.4% increase in serum apolipoprotein B. Subjects with blood group O had significantly higher ery-apoB values (1.56 ± 0.94 a.u. when compared to subjects with blood group A (0.89 ± 1.15 a.u, blood group B (0.73 ± 0.1.12 a.u. or blood group AB (0.69 ± 0.69 a.u. (P-ANOVA = 0.002. CONCLUSION: Absence or very low values of ery-apoB are associated with clinical and subclinical atherosclerosis. While serum apolipoprotein B is not associated with ery-apoB, the ABO blood group seems to be a significant determinant.

  4. HLA-class II alleles in patients with drug-resistant pulmonary tuberculosis in Kazakhstan.

    Science.gov (United States)

    Kuranov, A B; Kozhamkulov, U A; Vavilov, M N; Belova, E S; Bismilda, V L; Alenova, A H; Ismailov, S S; Momynaliev, K T

    2014-02-01

    The human leukocyte antigen (HLA) system has a major role in the regulation of the immune response as it is involved in the defense against pathogens. Some studies have reported that HLA class II genes play a strong role in severe cases of pulmonary tuberculosis (PTB) in several populations. Thus the aim of the study was to compare the HLA-class II alleles of patients with drug resistant tuberculosis with those of healthy controls from the same ethnic group in Kazakhstan. The aim of the present study was to evaluate the correlation of HLA-class II alleles by patients with drug resistant tuberculosis and the healthy controls of the same ethnic group in Kazakhstan. The HLA-class II alleles of 76 patients with tuberculosis (TB) and 157 healthy volunteers were investigated using sequence-based typing (SBT)-method. HLA-DQA1*03:02 HLA-DRB1*08:01 and DRB1*08:03 occurred more frequently (P = 0.05) in patients with drug resistant tuberculosis than in controls. We observed a possible association between certain HLA alleles and TB that are specific for the Kazakh population. Further studies are needed to confirm our findings using a larger number of patients with drug resistant tuberculosis. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Frequency of ABO blood groups and RhD factor in the female population of District Peshawar

    OpenAIRE

    Nazli, Rubina; Haider, Jamila; Khan, Mohammad Akmal; Akhtar, Tasleem; Aslam, Hina

    2015-01-01

    Objective: To determine the frequency of ABO blood group and Rhesus (Rh) D antigen in the females of “District” Peshawar, Khyber Pakhtunkhwa Province, Pakistan. Methods: This cross-sectional study was conducted on 429 women having pregnancy induced hypertension, admitted in the three teaching hospitals of Peshawar, over a period of one year. Blood sample was collected from each subject after taking informed consent. The antigen antibody agglutination slide test for “blood grouping (ABO)” and ...

  6. Human minisatellite alleles detectable only after PCR amplification.

    Science.gov (United States)

    Armour, J A; Crosier, M; Jeffreys, A J

    1992-01-01

    We present evidence that a proportion of alleles at two human minisatellite loci is undetected by standard Southern blot hybridization. In each case the missing allele(s) can be identified after PCR amplification and correspond to tandem arrays too short to detect by hybridization. At one locus, there is only one undetected allele (population frequency 0.3), which contains just three repeat units. At the second locus, there are at least five undetected alleles (total population frequency 0.9) containing 60-120 repeats; they are not detected because these tandem repeats give very poor signals when used as a probe in standard Southern blot hybridization, and also cross-hybridize with other sequences in the genome. Under these circumstances only signals from the longest tandemly repeated alleles are detectable above the nonspecific background. The structures of these loci have been compared in human and primate DNA, and at one locus the short human allele containing three repeat units is shown to be an intermediate state in the expansion of a monomeric precursor allele in primates to high copy number in the longer human arrays. We discuss the implications of such loci for studies of human populations, minisatellite isolation by cloning, and the evolution of highly variable tandem arrays.

  7. The role of ABO blood groups in Crohn's disease and in monitoring response to infliximab treatment.

    Science.gov (United States)

    Yu, Qiao; Wang, Lingyun; Zhang, Shenghong; Feng, Ting; Li, Li; Chen, Baili; Chen, Minhu

    2016-09-01

    The variation in ABO blood groups is reported to be associated with multiple diseases. Infliximab (IFX) has been widely used in the treatment of Crohn's disease (CD). We aim to investigate the distribution of ABO blood groups in Chinese patients with CD and to explore its impact on response to IFX. Patients with CD were consecutively recruited to the study between 2007 and 2014. CD patients receiving IFX therapy were followed for at least two years. In 293 patients with CD, most patients (40.6%) had blood type O (119/293). The odds ratio (OR) of CD in blood type O patients was 1.06 (95%CI: 0.6-1.86; p=0.84) compared to all other blood types. Among those CD patients, 107 patients received IFX treatment. One year after the first course of IFX, a significant association was found between the overall ABO system and outcomes of IFX treatment (pblood type AB (OR=4.42, 95% CI: 1.04-18.76; p=0.044) were more likely to achieve mucosal healing, while CD patients with blood type A had a high risk of losing response (OR=0.38, 95% CI: 0.15-0.96; p=0.040). ABO blood groups are not associated with prevalence of CD. Patients with blood type AB had a better response to IFX while those with blood type A appeared to have a risk of losing response to IFX.

  8. Blood type, ABO genetic variants, and ovarian cancer survival.

    Directory of Open Access Journals (Sweden)

    Gabriella D Cozzi

    Full Text Available Blood type A and the A1 allele have been associated with increased ovarian cancer risk. With only two small studies published to date, evidence for an association between ABO blood type and ovarian cancer survival is limited.We conducted a retrospective cohort study of Tumor Registry confirmed ovarian cancer cases from the Vanderbilt University Medical Center with blood type from linked laboratory reports and ABO variants from linked Illumina Exome BeadChip data. Associations with overall survival (OS were quantified by hazard ratios (HR and confidence intervals (CI from proportional hazards regression models; covariates included age, race, stage, grade, histologic subtype, and year of diagnosis.ABO phenotype (N = 694 and/or genotype (N = 154 data were available for 713 predominantly Caucasian (89.3% cases. In multivariable models, blood type A had significantly better OS compared to either O (HR: 0.75, 95% CI: 0.60-0.93 or all non-A (HR: 0.77, 95% CI: 0.63-0.94 cases. Similarly, missense rs1053878 minor allele carriers (A2 had better OS (HR: 0.50, 95% CI: 0.25-0.99. Among Caucasians, this phenotype association was strengthened, but the genotype association was attenuated; instead, four variants sharing moderate linkage disequilibrium with the O variant were associated with better OS (HR: 0.62, 95% CI: 0.39-0.99 in unadjusted models.Blood type A was significantly associated with longer ovarian cancer survival in the largest such study to date. This finding was supported by genetic analysis, which implicated the A2 allele, although O related variants also had suggestive associations. Further research on ABO and ovarian cancer survival is warranted.

  9. Fibroblast growth factor 23 (FGF23) gene polymorphisms are associated with essential hypertension risk and blood pressure levels in Chinese Han population.

    Science.gov (United States)

    Cai, Peng; Peng, Yan; Li, Li; Chu, Wei; Wang, Xukai

    2018-01-16

    In this case-control study, 246 EH patients and 157 healthy controls were selected from Chinese Han population to explore the associations between the fibroblast growth factor 23 (FGF23) gene polymorphisms and essential hypertension (EH).The SequenomMassarray system was used for the genotyping of three FGF23 gene Tag single-nucleotide polymorphisms, namely rs7955866, rs13312756, and rs3812822. The primers were designed by Assay Designer 3.1 software, and then the samples were added to a 384-well plate for the polymerase chain reaction amplification, shrimp alkaline phosphatase reaction, and desalting after extension. The distributions of the alleles, genotypes, and haplotypes were compared between the two groups. Confounding factors (sex, age, BMI, smoking, and drinking) were adjusted in the non-logistic regression, and the results showed that rs7955866 and rs3812822 polymorphisms were independently associated with the risk of developing EH (P control group showed that carrying rs7955866 A allele (P = 0.031) and rs3812822 C allele (P = 0.025) was associated with the increase of systolic blood pressure (SBP). The insulin (INS) level in the peripheral blood was significantly different between the case and control groups (P = 0.014). After confounding factors were excluded, the results showed that the serum INS level was also an independent risk factor of developing EH (P = 0.044; OR = 1.604, 95%CI: 1.014-2.539). In summary, our results suggest that FGF23 gene polymorphisms are associated with the risk of developing EH in Chinese Han population.

  10. Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

    DEFF Research Database (Denmark)

    Milani, Lili; Lundmark, Anders; Nordlund, Jessica

    2008-01-01

    To identify genes that are regulated by cis-acting functional elements in acute lymphoblastic leukemia (ALL) we determined the allele-specific expression (ASE) levels of 2, 529 genes by genotyping a genome-wide panel of single nucleotide polymorphisms in RNA and DNA from bone marrow and blood...

  11. Allele-dependent differences in quorum-sensing dynamics result in variant expression of virulence genes in Staphylococcus aureus.

    Science.gov (United States)

    Geisinger, Edward; Chen, John; Novick, Richard P

    2012-06-01

    Agr is an autoinducing, quorum-sensing system that functions in many Gram-positive species and is best characterized in the pathogen Staphylococcus aureus, in which it is a global regulator of virulence gene expression. Allelic variations in the agr genes have resulted in the emergence of four quorum-sensing specificity groups in S. aureus, which correlate with different strain pathotypes. The basis for these predilections is unclear but is hypothesized to involve the phenomenon of quorum-sensing interference between strains of different agr groups, which may drive S. aureus strain isolation and divergence. Whether properties intrinsic to each agr allele directly influence virulence phenotypes within S. aureus is unknown. In this study, we examined group-specific differences in agr autoinduction and virulence gene regulation by utilizing congenic strains, each harboring a unique S. aureus agr allele, enabling a dissection of agr locus-dependent versus genotype-dependent effects on quorum-sensing dynamics and virulence factor production. Employing a reporter fusion to the principal agr promoter, P3, we observed allele-dependent differences in the timing and magnitude of agr activation. These differences were mediated by polymorphisms within the agrBDCA genes and translated to significant variations in the expression of a key transcriptional regulator, Rot, and of several important exoproteins and surface factors involved in pathogenesis. This work uncovers the contribution of divergent quorum-sensing alleles to variant expression of virulence determinants within a bacterial species.

  12. PRDM16 Gene Polymorphism Is Associated with Obesity and Blood Lipids Profiles in Saudi Population

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    Aishah AlAmrani

    2018-06-01

    Full Text Available Aims: The PR domain containing 16 (PRDM16 gene and the Phosphodiesterase 4D (PDE4 gene are both an essential regulators in the thermogenesis process in the brown adipose tissues (BAT. The influence of polymorphisms in those genes on obesity and blood lipids profile is unknown particularly in the Saudi population, so the current study is aiming to explore that. Methods: A case control format was used that involved 89 obese individual and 84 non-obese (control. The PRDM16 (rs2651899 and PDE4D (rs295978 polymorphisms were genotyped using KASP™ (Competitive Allele-Specific PCR method. Results: The distributions of the AA, GG, and AG genotypes of PRDM16 (rs2651899 polymorphism were 0.19, 0.26 and 0.54, respectively. While the distribution of the mutated allele A was 0.7 in the obese group comparing to 0.34 in the non-obese group. Participants with the mutated genotypes, AA and AG, of PRDM16 (rs2651899 polymorphism were significantly more likely to be obese as compared to participants with wild type genotype (OR = 21, 95% CI = 5.4190 to 84.4231, p value < 0.0001 and OR = 44.6, 95% CI = 11.5984 to 172.0157, p value < 0.0001, respectively. The wild type GG genotype of this polymorphism was associated with higher blood cholesterol, HDL and LDL but lower blood triglyceride compared with the mutated genotypes (p = 0.003, p = 0.008, p = 0.02 and p = 0.003, respectively. In contrast, PDE4D (rs295978 polymorphism was not associated with risk of obesity and had no effects on blood lipids profile. Conclusions: We found that the PRDM16 polymorphism (rs2651899 is a risk factor for obesity and influence blood lipids profiles significantly in Saudi population. While the PDE4D (rs295978 polymorphism didn’t show significant effect on risk of obesity or blood lipids profiles.

  13. Exploring the Impact of Students' Learning Approach on Collaborative Group Modeling of Blood Circulation

    Science.gov (United States)

    Lee, Shinyoung; Kang, Eunhee; Kim, Heui-Baik

    2015-01-01

    This study aimed to explore the effect on group dynamics of statements associated with deep learning approaches (DLA) and their contribution to cognitive collaboration and model development during group modeling of blood circulation. A group was selected for an in-depth analysis of collaborative group modeling. This group constructed a model in a…

  14. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)

    International Nuclear Information System (INIS)

    Morgenthaler, Stephan; Thilly, William G.

    2007-01-01

    A method is described to discover if a gene carries one or more allelic mutations that confer risk for any specified common disease. The method does not depend upon genetic linkage of risk-conferring mutations to high frequency genetic markers such as single nucleotide polymorphisms. Instead, the sums of allelic mutation frequencies in case and control cohorts are determined and a statistical test is applied to discover if the difference in these sums is greater than would be expected by chance. A statistical model is presented that defines the ability of such tests to detect significant gene-disease relationships as a function of case and control cohort sizes and key confounding variables: zygosity and genicity, environmental risk factors, errors in diagnosis, limits to mutant detection, linkage of neutral and risk-conferring mutations, ethnic diversity in the general population and the expectation that among all exonic mutants in the human genome greater than 90% will be neutral with regard to any effect on disease risk. Means to test the null hypothesis for, and determine the statistical power of, each test are provided. For this 'cohort allelic sums test' or 'CAST', the statistical model and test are provided as an Excel (TM) program, CASTAT (C) at http://epidemiology.mit.edu. Based on genetics, technology and statistics, a strategy of enumerating the mutant alleles carried in the exons and splice sites of the estimated ∼25,000 human genes in case cohort samples of 10,000 persons for each of 100 common diseases is proposed and evaluated: A wide range of possible conditions of multi-allelic or mono-allelic and monogenic, multigenic or polygenic (including epistatic) risk are found to be detectable using the statistical criteria of 1 or 10 ''false positive'' gene associations per 25,000 gene-disease pair-wise trials and a statistical power of >0.8. Using estimates of the distribution of both neutral and gene-inactivating nondeleterious mutations in humans and

  15. Allelic genealogies in sporophytic self-incompatibility systems in plants

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1998-01-01

    , alleles act codominantly in both pollen and style, in the SSIdom model, alleles form a dominance hierarchy, and in SSIdomcod, alleles are codominant in the style and show a dominance hierarchy in the pollen. Coalescence times of alleles rarely differ more than threefold from those under gametophytic self...

  16. Association of ABO blood groups and Rh factor with retinal and choroidal thickness.

    Science.gov (United States)

    Teberik, Kuddusi; Eski, Mehmet Tahir

    2018-06-01

    To evaluate if ABO blood group and Rh factor have an effect on retinal and choroidal thickness. This study was designed prospectively. Retinal nerve fiber layer, retinal, and choroidal thicknesses were measured with spectral-domain optical coherence tomography. Retinal and choroidal thickness measurements (one subfoveal, three temporal, and three nasal) were obtained at 500-μm intervals up to 1500 μm with the caliper system. In this study, 109 male and 151 female, 260 individuals in total were included. There were 125 subjects in group A, 29 in group B, 34 in group AB, and 72 in group O. Rh factor was positive in 194 subjects and negative in 66. There was no significant difference between the groups regarding age (p = 0.667). The groups did not show any statistical difference in retinal nerve fiber layer thickness. There was significant difference found for mean retinal thickness at temporal 1000 μm when four groups were compared (p = 0.037). No statistically significant difference was detected for the remaining retinal and choroidal sectoral regions. The groups did not statistically significantly differ concerning Rh factor (p > 0.05). Although we found a significant difference in retinal thickness in the temporal retina between group B with group A and group O, we suggest that both blood group and Rh factor have no effect on retinal and choroidal thickness.

  17. Significance of ABO-Rh blood groups in response and prognosis in breast cancer patients treated with radiotherapy and chemotherapy.

    Science.gov (United States)

    Cihan, Yasemin Benderli

    2014-01-01

    To evaluate whether ABO-Rh blood groups have significance in the treatment response and prognosis in patients with non-metastatic breast cancer. We retrospectively evaluated files of 335 patients with breast cancer who were treated between 2005 and 2010. Demographic data, clinic- pathological findings, treatments employed, treatment response, and overall and disease-free survivals were reviewed. Relationships between clinic-pathological findings and blood groups were evaluated. 329 women and 6 men were included to the study. Mean age at diagnosis was 55.2 years (range: 26-86). Of the cases, 95% received chemotherapy while 70% were given radiotherapy and 60.9% adjuvant hormone therapy after surgery. Some 63.0% were A blood group, 17.6% O, 14.3% B and 5.1% AB. In addition, 82.0% of the cases were Rh-positive. Mean follow-up was 24.5 months. Median overall and progression-free survival times were 83.9 and 79.5 months, respectively. Overall and disease-free survival times were found to be higher in patients with A and O blood groups (pgroup (p=0.226). In univariate and multivariate analyses, ABO blood groups were identified as factors that had significant effects on overall and disease-survival times (p=0.011 and p=0.002). It was seen that overall and disease-free survival times were higher in breast cancer patients with A and O blood groups when compared to those with other blood groups. It was seen that A and O blood groups had good prognostic value in patients with breast cancer.

  18. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

    Energy Technology Data Exchange (ETDEWEB)

    Triggs-Raine, B.L.; Akerman, B.R.; Gravel, R.A. (McGill Univ.-Montreal Children' s Hospital Research Institute, Montreal, Quebec (Canada)); Mules, E.H.; Thomas, G.H.; Dowling, C.E. (Johns Hopkins School of Medicine, Baltimore, MD (United States)); Kaback, M.M.; Lim-Steele, J.S.T. (Univ. of California, San Diego, CA (United States)); Natowicz, M.R. (Eunice Kennedy Shriver Center for Mental Retardation, Waltham, MA (United States)); Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Navon, R.R. (Tel-Aviv Univ., Kfar-Sava (Israel)); Welch, J.P. (Dalhousie Univ., Halifax, Nova, Scotia (Canada)); Greenberg, C.R. (Univ. of Manitoba, Winnipeg (Canada))

    1992-10-01

    Deficiency of [beta]-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. The authors analyzed the HEXA gene of one pseudodeficient subject and identified both a C[sub 739]-to-T substitution that changes Arg[sub 247][yields]Trp on one allele and a previously identified Tay-Sachs disease mutation of the second allele. Six additional pseudodeficient subjects were found to have the C[sub 739]-to-T but for none of 36 Jewish enzyme-defined carries who did not have one of three known mutations common to this group. The C[sub 739]-to-T allele, together with a [open quotes]true[close quotes] Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C[sub 739]-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses. 40 refs., 3 figs., 4 tabs.

  19. HLA class II alleles and the presence of circulating Epstein-Barr virus DNA in greek patients with nasopharyngeal carcinoma

    International Nuclear Information System (INIS)

    Karanikiotis, C.; Daniilidis, M.; Karyotis, N.; Nikolaou, A.; Bakogiannis, C.; Economopoulos, T.; Murray, S.; Papamichael, D.; Samantas, E.; Skoura, L.; Tselis, N.; Zamboglou, N.; Fountzilas, G.

    2008-01-01

    Background and purpose: nasopharyngeal carcinoma (NPC) represents a seldom malignancy in most developed countries. Nevertheless, NPC receives an endemic form in concrete racial entities. The aims of this study were to detect the presence of Epstein-Barr virus DNA (EBV-DNA) in peripheral blood of NPC patients, to molecularly define human leukocyte antigens (HLA) DRB1*, DQA1* and DQB1* allele frequencies, and, finally, to determine whether the genetic predisposition of an individual to NPC depends on the liability to EBV infection. Patients and methods: a total of 101 patients of Hellenic origin and nationality, with histologically proven NPC, participated in this study. EBV-DNA detection was also applied in 66 patients with EBV-related malignancies (Hodgkin's [HL] and non-Hodgkin's lymphoma [NHL]) and infectious mononucleosis (IM), as well as in 80 healthy EBV-seropositive controls. Results: 81% of the NPC patients, 77.8% with HL, 72.2% with NHL, and 66.7% with IM were EBV-DNA positive, whereas the EBV genome was detected only in 15% of the healthy controls. These differences were statistically significant in all cases. Analysis of HLA class II antigens showed decreased frequency of the DRB1*07 (p 0.003), DQA1*0103 (p = 0.002), and DQA1*0201 (p = 0.003) alleles among NPC patients. A significant association between the HLA-DR/DQ alleles and the presence of EBV-DNA in peripheral whole blood was not established. Conclusion: circulating EBV-DNA and specific HLA class II alleles may predispose to or protect from NPC. However, the results of this study suggest that the genetic predisposition of an individual to NPC is independent of the liability to EBV infection. (orig.)

  20. HLA-DRB1 alleles in four Amerindian populations from Argentina and Paraguay

    Science.gov (United States)

    2009-01-01

    The major histocompatibility complex (MHC) is one of the biological systems of major polymorphisms. The study of HLA class II variability has allowed the identification of several alleles that are characteristic to Amerindian populations, and it is an excellent tool to define the relations and biological affinities among them. In this work, we analyzed the allelic distribution of the HLA-DRB1 class II locus in four Amerindian populations: Mapuche (n = 34) and Tehuelche (n = 23) from the Patagonian region of Argentina, and Wichi SV (n = 24) and Lengua (n = 17) from the Argentinean and Paraguayan Chaco regions, respectively. In all of these groups, relatively high frequencies of Amerindian HLA-DRB1 alleles were observed (DRB1*0403, DRB1*0407, DRB1*0411, DRB1*0417, DRB1*0802, DRB1*0901, DRB1*1402, DRB1*1406 and DRB1*1602). However, we also detected the presence of non-Amerindian variants in Mapuche (35%) and Tehuelche (22%). We compared our data with those obtained in six indigenous groups of the Argentinean Chaco region and in a sample from Buenos Aires City. The genetic distance dendrogram showed a clear-cut division between the Patagonian and Chaco populations, which formed two different clusters. In spite of their linguistic differences, it can be inferred that the biological affinities observed are in concordance with the geographic distributions and interethnic relations established among the groups studied. PMID:21637670

  1. Association between ABO and Rh Blood Groups and Risk of Preeclampsia: A Case-Control Study from Iran.

    Science.gov (United States)

    Aghasadeghi, Firoozeh; Saadat, Mostafa

    2017-04-15

    Preeclampsia (PE) is a major cause of maternal and neonatal morbidity and mortality. There is a genetic component in the development of PE with estimated heritability around 0.47. Several studies have investigated the association between maternal ABO blood groups (OMIM 110300) and risk of PE, with contradictory results have emerged. Considering that there is no study in this filed from Iranian population, the present case-control study was carried out at Shiraz (south-west Iran). In this study 331 women; 121 pregnant with PE and 210 normotensive pregnant women were included. Using blood group O (for ABO blood groups) or Rh+ (for Rh blood groups) as a reference, odds ratios (ORs) and its 95% confidence intervals (95% CI) of PE risk were estimated from logistic regression analysis. Although the A (OR = 0.67, 95% CI = 0.39-1.17, P = 0.165), B (OR = 0.86, 95% CI = 0.48-1.53, P = 0.615) and AB (OR = 1.14, 95% CI = 0.37-3.45, P = 0.812) phenotypes showed lower risks compared with the O blood group, statistical analysis indicated that there was no significant association between ABO phenotypes and risk of PE. The frequency of Rh- phenotype was higher among PE patients compared with the control group. However, the association was not significant (OR = 1.79, 95% CI = 0.69-4.65, P = 0.229). Adjusted ORs for age of participants and parity did not change the above-mentioned associations. Our present findings indicate that there is no association between ABO and Rh blood groups and risk of PE in Iranian population.

  2. Frequency Distribution of Blood Groups ABO, MN and Rh Factor in Philippine Cosmopolitan, Regional and the National Populations

    OpenAIRE

    Ruth Marian S. Guzman; Ricardo Noel R. Gervasio; Ian Kendrich C. Fontanilla; Ernelea P. Cao

    2009-01-01

    Frequency distribution of blood groups is important as it is used in modern medicine, genetic research, anthropology, and tracing ancestral relations of humans. Blood groups include the ABO, Rh and the MN red cell antigens. The frequency distribution of these three blood groups were obtained and assessed for differences from three populations: (1) a regional population from the town of Cabagan located in Isabela province; (2) a cosmopolitan population from the University of the Philippines’ r...

  3. Association of primary biliary cirrhosis with the allele HLA-DPB1*0301 in a German population.

    Science.gov (United States)

    Mella, J G; Roschmann, E; Maier, K P; Volk, B A

    1995-02-01

    The major histocompatibility complex class II alleles at the HLA-DPB1 locus were investigated in 32 German Caucasoid patients with primary biliary cirrhosis (PBC) and compared with those from 47 normal control patients using molecular genotyping techniques. The second exon of the HLA-DPB1 gene was amplified by polymerase chain reaction (PCR) and hybridized with 25 sequence-specific oligonucleotides (SSOs) to assign the HLA-DPB1 alleles on the basis of known sequence variations, according to the protocols of the Eleventh International Histocompatibility Workshop. A strong association of PBC was found with the allele HLA-DPB1*0301. The allele HLA DPB1*0301 was present in 50% (16 of 32) of the patients with PBC compared with 13% (6 of 47) of normal controls (P corrected < .015), whereas the other HLA-DPB1 alleles showed no significant differences in both groups. The relative risk (RR) estimate for the allele HLA-DPB1*0301 was 6.8 (95% confidence limits: 2.27 to 20.57). In summary, this study clearly demonstrates an association of PBC with the HLA-DPB1*0301 allele in German Caucasoids and may add new data to the immunogenetic background of PBC, suggesting a contribution of the HLA-DPB1 gene to the genetic susceptibility of the disease.

  4. FREQUENCY AND DISTRIBUTION OF ABO & RH BLOOD GROUP IN BILASPUR DISTRICT OF CHHATTISGARH STATE : A STUDY FROM MEDICAL COLLEGE HOSPITAL

    Directory of Open Access Journals (Sweden)

    Bhanu Pratap

    2015-07-01

    Full Text Available BACKGROUND : Approximate 30 blood group systems have discovered and more than 400 erythrocytes antigens are identified. Blood group ABO and Rh are most important among all other blood group systems in transfusion service practices. The frequency of four major blood gr oup s namely A, B, O, AB with Rh Positive and Negative varies in different population of the world and differ also in region and race wise. MATERIAL AND METHOD : This 5 years retrospective study was conducted at Blood Bank of a Medical college Hospital of Bi laspur in Northern Chhattisgarh, catering the 1/3 population of state. Data were collected from the Blood Bank Grouping record from the period of January 2010 to December 2014. Blood group of blood donors and patients were determined by Monoclonal Anti Ser a by slide agglutinations tests. Rare case and difficult case were examined by test tube agglutination method and Matrix Gel System of Tulip. RESULT AND CONCLUSIO N: 31973 subjects were examined for blood group during observation period, Out of these 31092( 97.25% were male and 881 (2.75% were female. The frequency of blood group B in these populations was 11007 (34.42% (33.36% Rh Positive and 1.06% Rh Negative Followed by O were 10864 (33.97% (33.33% Rh Positive and 0.64% Rh Negative, A was 9113 (28.50 % (27.99 % Rh Positive and 0.51% Rh Negative and AB was 989 (3.11% (3.01% Rh Positive and 0.1% Rh Negative. Rhesus group Rh Positive were 31242 (97.7 % and Rh Negative were 731 (2.3 %.

  5. Allele frequencies of AVPR1A and MAOA in the Afrikaner population

    Directory of Open Access Journals (Sweden)

    J. Christoff Erasmus

    2015-07-01

    Full Text Available The Afrikaner population was founded mainly by European immigrants that arrived in South Africa from 1652. However, female slaves from Asia and Africa and local KhoeSan women may have contributed as much as 7% to this population’s genes. We quantified variation at two tandem repeats to see if this historical founder effect and/or admixture could be detected. The two loci were chosen because they are in the promoters of genes of neurotransmitters that are known to be correlated with social behaviour. Specifically, arginine vasopressin receptor 1A’s (AVPR1A RS3 locus has been shown to correlate with age of sexual onset and happiness in monogamous relationships while the tandem repeat in the promoter of the monoamine oxidase A (MAOA gene correlates with reactive aggression. The Afrikaner population contained more AVPR1A RS3 alleles than other Caucasoid populations, potentially reflecting a history of admixture. Even though Afrikaners have one of the lowest recorded non-paternity rates in the world, the population did not differ at AVPR1A RS3 locus form other European populations, suggesting a non-genetic explanation, presumably religion, for the low non-paternity rate. By comparing population allele-frequency spectra it was found that different studies have confused AVPR1A RS3 alleles and we make some suggestions to rectify these mistakes in future studies. While MAOA allele frequencies differed between racial groups, the Afrikaner population showed no evidence of admixture. In fact, Afrikaners had more 4-repeat alleles than other populations of European origin, not fewer. The 4-repeat allele may have been selected for during colonisation.

  6. A novel paper-based assay for the simultaneous determination of Rh typing and forward and reverse ABO blood groups.

    Science.gov (United States)

    Noiphung, Julaluk; Talalak, Kwanrutai; Hongwarittorrn, Irin; Pupinyo, Naricha; Thirabowonkitphithan, Pannawich; Laiwattanapaisal, Wanida

    2015-05-15

    We propose a new, paper-based analytical device (PAD) for blood typing that allows for the simultaneous determination of ABO and Rh blood groups on the same device. The device was successfully fabricated by using a combination of wax printing and wax dipping methods. A 1:2 blood dilution was used for forward grouping, whereas whole blood could be used for reverse grouping. A 30% cell suspension of A-cells or B-cells was used for haemagglutination on the reverse grouping side. The total assay time was 10 min. The ratio between the distance of red blood cell movement and plasma separation is the criterion for agglutination and indicates the presence of the corresponding antigen or antibody. The proposed PAD has excellent reproducibility in that the same blood groups, namely A, AB, and O, were reported by using different PADs that were fabricated on the same day (n=10). The accuracy for detecting blood group A (n=12), B (n=13), AB (n=9), O (n=14), and Rh (n=48) typing were 92%, 85%, 89%, 93%, and 96%, respectively, in comparison with the conventional slide test method. The haematocrit of the sample affects the accuracy of the results, and appropriate dilution is suggested before typing. In conclusion, this study proposes a novel method that is straightforward, time-saving, and inexpensive for the simultaneous determination of ABO and Rh blood groups, which is promising for use in developing countries. Copyright © 2015 Elsevier B.V. All rights reserved.

  7. Association of ABO blood groups with von Willebrand factor, factor VIII and ADAMTS-13 in patients with lung cancer.

    Science.gov (United States)

    Liu, Xia; Chen, Xiaogang; Yang, Jiezuan; Guo, Renyong

    2017-09-01

    Coagulative and fibrinolytic disorders appear to be associated with the development of lung cancer. The aim of the present study was to determine plasma levels of von Willebrand factor (VWF) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif 13 (ADAMTS-13), and factor VIII (FVIII) activity, in association with O and non-O blood groups in patients with lung cancer. Plasma levels of VWF and ADAMTS-13, and FVIII activity were measured in 115 patients with lung cancer and 98 healthy subjects. Phenotyping of the ABO blood groups was also performed for the two groups. Significantly increased VWF levels and FVIII activity, as well as significantly decreased ADAMTS-13 levels, were observed in patients with distant metastasis as compared with those without distant metastasis and the healthy controls. Plasma VWF levels and FVIII activity were significantly increased in subjects with non-O type blood compared with those with type O blood in the two groups. However, a significant decrease in ADAMTS-13 levels was observed only in the control group among those with non-O type blood, compared with those with type O blood. The results of the present study indicate that increased VWF and decreased ADAMTS-13 levels facilitate the invasiveness and metastasis of lung cancer. Non-O blood groups constitute a risk factor for increased VWF and FVIII in plasma. Continued monitoring of VWF and ADAMTS-13 levels, and of FVIII activity in patients with lung cancer with distinct blood groups may help to minimize the incidence of thrombotic events and improve assessment of disease progression.

  8. Serum γ-Glutamyltransferase, Alanine Aminotransferase and Aspartate Aminotransferase Activity in Healthy Blood Donor of Different Ethnic Groups in Gorgan.

    Science.gov (United States)

    Marjani, Abdoljalal; Mehrpouya, Masoumeh; Pourhashem, Zeinab

    2016-07-01

    Measure of liver enzymes may help to increase safety of blood donation for both blood donor and recipient. Determination of liver enzymes may prepare valuable clinical information. To assess serum γ-Glutamyltransferase (GGT), Alanine Aminotransferase (ALT), and Aspartate Aminotransferase (AST) activities in healthy blood donors in different ethnic groups in Gorgan. This study was performed in 450 healthy male blood donors, in three ethnic groups (Fars, Sistanee and Turkman) who attended Gorgan blood transfusion center. Liver enzymes (GGT, ALT and AST) were determined. Serum AST and ALT in three ethnic groups were significant except for serum GGT levels. There was significant correlation between family histories of liver disease and systolic blood pressure and AST in Fars, and GGT in Sistanee ethnic groups. Several factors, such as age, family history of diabetes mellitus, family history of liver disease and smoking habit had no effect on some liver enzymes in different ethnic groups in this area. Variation of AST, ALT, and GGT enzyme activities in healthy subjects was associated with some subjects in our study groups. According to our study, it suggests that screening of AST and GGT enzymes in subjects with family history of liver disease is necessary in different ethnic groups.

  9. Assigning breed origin to alleles in crossbred animals.

    Science.gov (United States)

    Vandenplas, Jérémie; Calus, Mario P L; Sevillano, Claudia A; Windig, Jack J; Bastiaansen, John W M

    2016-08-22

    For some species, animal production systems are based on the use of crossbreeding to take advantage of the increased performance of crossbred compared to purebred animals. Effects of single nucleotide polymorphisms (SNPs) may differ between purebred and crossbred animals for several reasons: (1) differences in linkage disequilibrium between SNP alleles and a quantitative trait locus; (2) differences in genetic backgrounds (e.g., dominance and epistatic interactions); and (3) differences in environmental conditions, which result in genotype-by-environment interactions. Thus, SNP effects may be breed-specific, which has led to the development of genomic evaluations for crossbred performance that take such effects into account. However, to estimate breed-specific effects, it is necessary to know breed origin of alleles in crossbred animals. Therefore, our aim was to develop an approach for assigning breed origin to alleles of crossbred animals (termed BOA) without information on pedigree and to study its accuracy by considering various factors, including distance between breeds. The BOA approach consists of: (1) phasing genotypes of purebred and crossbred animals; (2) assigning breed origin to phased haplotypes; and (3) assigning breed origin to alleles of crossbred animals based on a library of assigned haplotypes, the breed composition of crossbred animals, and their SNP genotypes. The accuracy of allele assignments was determined for simulated datasets that include crosses between closely-related, distantly-related and unrelated breeds. Across these scenarios, the percentage of alleles of a crossbred animal that were correctly assigned to their breed origin was greater than 90 %, and increased with increasing distance between breeds, while the percentage of incorrectly assigned alleles was always less than 2 %. For the remaining alleles, i.e. 0 to 10 % of all alleles of a crossbred animal, breed origin could not be assigned. The BOA approach accurately assigns

  10. Blood type, ABO genetic variants, and ovarian cancer survival

    Science.gov (United States)

    Cozzi, Gabriella D.; Levinson, Rebecca T.; Toole, Hilary; Snyder, Malcolm-Robert; Deng, Angie; Crispens, Marta A.; Khabele, Dineo; Beeghly-Fadiel, Alicia

    2017-01-01

    Objective Blood type A and the A1 allele have been associated with increased ovarian cancer risk. With only two small studies published to date, evidence for an association between ABO blood type and ovarian cancer survival is limited. Methods We conducted a retrospective cohort study of Tumor Registry confirmed ovarian cancer cases from the Vanderbilt University Medical Center with blood type from linked laboratory reports and ABO variants from linked Illumina Exome BeadChip data. Associations with overall survival (OS) were quantified by hazard ratios (HR) and confidence intervals (CI) from proportional hazards regression models; covariates included age, race, stage, grade, histologic subtype, and year of diagnosis. Results ABO phenotype (N = 694) and/or genotype (N = 154) data were available for 713 predominantly Caucasian (89.3%) cases. In multivariable models, blood type A had significantly better OS compared to either O (HR: 0.75, 95% CI: 0.60–0.93) or all non-A (HR: 0.77, 95% CI: 0.63–0.94) cases. Similarly, missense rs1053878 minor allele carriers (A2) had better OS (HR: 0.50, 95% CI: 0.25–0.99). Among Caucasians, this phenotype association was strengthened, but the genotype association was attenuated; instead, four variants sharing moderate linkage disequilibrium with the O variant were associated with better OS (HR: 0.62, 95% CI: 0.39–0.99) in unadjusted models. Conclusions Blood type A was significantly associated with longer ovarian cancer survival in the largest such study to date. This finding was supported by genetic analysis, which implicated the A2 allele, although O related variants also had suggestive associations. Further research on ABO and ovarian cancer survival is warranted. PMID:28448592

  11. Genetic basis of rare blood group variants

    NARCIS (Netherlands)

    Wigman, L.

    2013-01-01

    A transfusion of donor red blood cells can be life saving In individuals with massive blood loss due to an accident or surgery or in individuals with constitutive anemia due to a defect in erythropoiesis. Donor blood can, however, not be simply transfused to every patient. When a recipient of a red

  12. Correlation between Duffy blood group phenotype and breast cancer incidence

    International Nuclear Information System (INIS)

    Liu, Xiao-feng; Li, Lian-fang; Ou, Zhou-luo; Shen, Rong; Shao, Zhi-min

    2012-01-01

    Different ethnicities have different distribution of Duffy blood group (DBG) phenotypes and different breast cancer morbidity. A study in our lab demonstrated that Duffy antigen/receptor for chemokines (DARC, also known as DBGP, the Duffy protein phenotype), led to the inhibition of tumorigenesis. Therefore, we tested the hypothesis that DBGP is correlated with breast cancer occurrence. DBGP proteins were examined by indirect antiglobulin testing with anti-FYa and anti-FYb antibodies. The phenotypes were classified into four groups according to the agglutination reactions: FYa + FYb+, FYa + FYb-, FYa-FYb + and FYa-FYb-. The phenotypes and pathological diagnosis of consecutively hospitalized female patients (n = 5,022) suffering from breast cancer at the Shanghai Cancer Hospital and Henan Province Cancer Hospital were investigated. The relationships between DBGP expression with breast cancer occurrence, axillary lymph status, histological subtype, tumor size pathological grade and overall survival were analyzed. The incidence of breast cancer was significantly different between FYa + FYb + (29.8%), FYa + FYb- (33.2%), FYa-FYb + (45.6%) and FYa-FYb- (59.1%; P = 0.001). Significant different numbers of breast cancer patients had metastases to the axillary lymph nodes in the FYa + FYb + group (25.1%), FYa + FYb- (36.9%), FYa-FYb + (41.0%) and FYa-FYb- (50.0%, (P = 0.005). There was a statistical significance (p = 0.022) of the overall survival difference between patients with difference phenotypes. No significant difference was observed in cancer size (t-test, p > 0.05), histological cancer type (Fisher's exact test, p > 0.05) or histological grade (Fisher's exact test, p > 0.05) between every each DBGP group. DBGP is correlated with breast cancer incidence and axillary lymph node metastasis and overall survival. Further investigations are required to determine the underlying mechanism of Duffy blood group phenotype on breast cancer risk

  13. Genetic characteristic of swamp buffalo (Bubalus bubalis) from Pampangan, South Sumatra based on blood protein profile

    Science.gov (United States)

    Windusari, Yuanita; Hanum, Laila; Wahyudi, Rizki

    2017-11-01

    Swamp buffalo (Bubalus bubalis) is an endemic species and one of the genetic wealth of South Sumatra with a distribution area in the district of Pampangan (OganIlir and OganOganIlir). Suspected inbreeding causes decreased phenotypic properties. Inbreeding among various swamp buffalo is certainly not only lower the qualities but also genotypes and phenotypes. It is of interest to determine kinship variants swamp buffaloes from Pampangan through the analysis of a blood protein profile. Blood protein profile of four variants swamps buffalo was studied by using five electrophoresis system i.e. pre-albumin (Palb), albumin (Alb), ceruloplasmin (Cp), transferrin (Tf) and transferrin post (Ptf). In this paper, it is obtained that there was no significant differences among the four variants of the buffaloes were used as a sample. Prealbumin has two alleles (Palb1 and Palb2), albumin has three alleles (Alba, AlbB, AlbC), ceruloplasmin has one allele (BPA), post-transferrin has one allele (PTFA) with an allele frequency 1.0000 at any time transferrin has two alleles (TFA and TFB) with the allele frequency of 0.7500 and 1.0000. Characteristics prealbumin (Palb), albumin (Alb), ceruloplasmin (Cp), and post-transferrin (P-tf) is monomorphic, while transferrin is polymorphic average heterozygosity values all loci (H) 0.1286. Based on average heterozygosity, the swamp buffalo (Bubalusbubalis) from Pampangan has low genetic variation and closest genetic relationship.

  14. ALEA: a toolbox for allele-specific epigenomics analysis.

    Science.gov (United States)

    Younesy, Hamid; Möller, Torsten; Heravi-Moussavi, Alireza; Cheng, Jeffrey B; Costello, Joseph F; Lorincz, Matthew C; Karimi, Mohammad M; Jones, Steven J M

    2014-04-15

    The assessment of expression and epigenomic status using sequencing based methods provides an unprecedented opportunity to identify and correlate allelic differences with epigenomic status. We present ALEA, a computational toolbox for allele-specific epigenomics analysis, which incorporates allelic variation data within existing resources, allowing for the identification of significant associations between epigenetic modifications and specific allelic variants in human and mouse cells. ALEA provides a customizable pipeline of command line tools for allele-specific analysis of next-generation sequencing data (ChIP-seq, RNA-seq, etc.) that takes the raw sequencing data and produces separate allelic tracks ready to be viewed on genome browsers. The pipeline has been validated using human and hybrid mouse ChIP-seq and RNA-seq data. The package, test data and usage instructions are available online at http://www.bcgsc.ca/platform/bioinfo/software/alea CONTACT: : mkarimi1@interchange.ubc.ca or sjones@bcgsc.ca Supplementary information: Supplementary data are available at Bioinformatics online. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  15. Database for the ampC alleles in Acinetobacter baumannii.

    Directory of Open Access Journals (Sweden)

    Nabil Karah

    Full Text Available Acinetobacter baumannii is a troublesome opportunistic pathogen with a high capacity for clonal dissemination. We announce the establishment of a database for the ampC locus in A. baumannii, in which novel ampC alleles are differentiated based on the occurrence of ≥ 1 nucleotide change, regardless of whether it is silent or missense. The database is openly accessible at the pubmlst platform for A. baumannii (http://pubmlst.org/abaumannii/. Forty-eight distinctive alleles of the ampC locus have so far been identified and deposited in the database. Isolates from clonal complex 1 (CC1, according to the Pasteur multilocus sequence typing scheme, had a variety of the ampC locus alleles, including alleles 1, 3, 4, 5, 6, 7, 8, 13, 14, 17, and 18. On the other hand, isolates from CC2 had the ampC alleles 2, 3, 19, 20, 21, 22, 23, 24, 26, 27, 28, and 46. Allele 3 was characteristic for sequence types ST3 or ST32. The ampC alleles 10, 16, and 25 were characteristic for CC10, ST16, and CC25, respectively. Our study points out that novel gene databases, in which alleles are numbered based on differences in their nucleotide identities, should replace traditional records that use amino acid substitutions to define new alleles.

  16. The Purification of a Blood Group A Glycoprotein: An Affinity Chromatography Experiment.

    Science.gov (United States)

    Estelrich, J.; Pouplana, R.

    1988-01-01

    Describes a purification process through affinity chromatography necessary to obtain specific blood group glycoproteins from erythrocytic membranes. Discusses the preparation of erythrocytic membranes, extraction of glycoprotein from membranes, affinity chromatography purification, determination of glycoproteins, and results. (CW)

  17. Parkinson’s disease and low frequency alleles found together throughout LRRK2

    Science.gov (United States)

    Paisán-Ruiz, Coro; Washecka, Nicole; Nath, Priti; Singleton, Andrew B.; Corder, Elizabeth H.

    2016-01-01

    Mutations within LRRK2, most notably p.G2019S, cause Parkinson’s disease (PD) in rare monogenic families, and sporadic occurrences in diverse populations. We investigated variation throughout LRRK2 (84 SNPs; genotype or diplotype found for 49 LD blocks) for 275 cases (European ancestry, onset at age 60 or older) and 275 neurologically healthy control subjects (NINDS Neurogenetics Repository). Three grade-of-membership groups, i.e. genetic risk sets, were identified that exactly matched many subjects (cases: 46, 4, 137; controls: 0, 178, 0), and distinguished 94% of the subjects (i.e. > 50% likeness to one set). Set I, affected, carried certain low frequency alleles located in multiple functional domains. Set II was unaffected. Set III, also affected, resembled II except for slightly elevated frequencies of minor alleles not defining set I. We conclude that certain low frequency alleles distributed throughout LRRK2 are a genetic background to a third of cases, defining a distinct subset. PMID:19489756

  18. Histo-blood group antigens in human fetal thymus and in thymomas

    DEFF Research Database (Denmark)

    Engel, P; Dabelsteen, Erik; Francis, D

    1996-01-01

    -y, Le-x and sialyl-Le-x) of the ABO-histo-blood group system was investigated in 19 normal fetal thymuses (gestational age 16 to 39 weeks) and in 19 thymomas in order to study possible tumor-associated changes in the glycosylation pattern. The material was investigated by immunochemical stainings...

  19. Applications of a solid phase radioimmunoassay (SPRIA) to the micro-determination of ABO blood group

    International Nuclear Information System (INIS)

    Wu Fenqiang; Guo Jingyuan

    1995-01-01

    The authors report a simple, rapid, sensitive and accurate solid phase radioimmunoassay (SPRIA) method which has been improved. The research included the tests of its methodological parameters, sensitivity, accuracy, and the studies on its applications to the detection of blood group substances in varied forensic biological materials. The coefficient variation of intra-assay was 5.6%, and that of inter-assay was 10.15%. As to its applications to the forensic serology, the ABO blood groups of human bloodstain, hair follicular tissues and salivary stains had been tested and the results were satisfying. Later, 50 unknown type bloodly samples had been blind tested. The judging level used to identify the positive and negative wells was 800 cpm, that meant, if the radioactive count of a well were over 800 cpm, it was determined as a positive well, if that of a well were below 800 cpm, it was negative well. As SPRIA is a method of micro-determination which can micro-test the blood group antigens contained in varied forensic biological materials, it should has a good future of its applications to the forensic medicine fields

  20. Frequency of CCR5Δ32 allele in healthy Bosniak population.

    Directory of Open Access Journals (Sweden)

    Grażyna Adler

    2014-08-01

    Full Text Available Recent evidence has demonstrated the role of CCR5Δ32 in a variety of human diseases: from infectious and inflammatory diseases to cancer. Several studies have confirmed that genetic variants in chemokine receptor CCR5 gene are correlated with susceptibility and resistance to HIV infection. A 32-nucleotide deletion within the CCR5 reading frame is associated with decreased susceptibility to HIV acquisition and a slower progression to AIDS. Mean frequency of CCR5Δ32 allele in Europe is approximately 10%. The highest allele frequency is observed among Nordic populations (about 12% and lower in the regions of Southeast Mediterranean (about 5%. Although the frequency of CCR5Δ32 was determined in numerous European populations, there is a lack of studies on this variant in the Bosnia and Hercegovina population. Therefore, the aim of our study was to assess the frequency of CCR5Δ32 allele in the cohort of Bosniaks and compare the results with European reports. CCR5Δ32 was detected by sequence-specific PCR in a sample of 100 healthy subjects from Bosnia and Herzegovina (DNA collected 2011-2013.  Mean age of the cohort being 58.8 (±10.7 years, with 82% of women. We identified 17 heterozygotes and one mutant homozygote in study group, with mean ∆32 allele frequency of 9.5%. CCR5∆32 allele frequency among Bosniaks is comparable to that found in Caucasian populations and follows the pattern of the north-southern gradient observed for Europe. Further studies on larger cohorts with adequate female-to-male ratio are necessary. 

  1. Composition and functional analysis of low-molecular-weight glutenin alleles with Aroona near-isogenic lines of bread wheat

    Directory of Open Access Journals (Sweden)

    Zhang Xiaofei

    2012-12-01

    Full Text Available Abstract Background Low-molecular-weight glutenin subunits (LMW-GS strongly influence the bread-making quality of bread wheat. These proteins are encoded by a multi-gene family located at the Glu-A3, Glu-B3 and Glu-D3 loci on the short arms of homoeologous group 1 chromosomes, and show high allelic variation. To characterize the genetic and protein compositions of LMW-GS alleles, we investigated 16 Aroona near-isogenic lines (NILs using SDS-PAGE, 2D-PAGE and the LMW-GS gene marker system. Moreover, the composition of glutenin macro-polymers, dough properties and pan bread quality parameters were determined for functional analysis of LMW-GS alleles in the NILs. Results Using the LMW-GS gene marker system, 14–20 LMW-GS genes were identified in individual NILs. At the Glu-A3 locus, two m-type and 2–4 i-type genes were identified and their allelic variants showed high polymorphisms in length and nucleotide sequences. The Glu-A3d allele possessed three active genes, the highest number among Glu-A3 alleles. At the Glu-B3 locus, 2–3 m-type and 1–3 s-type genes were identified from individual NILs. Based on the different compositions of s-type genes, Glu-B3 alleles were divided into two groups, one containing Glu-B3a, B3b, B3f and B3g, and the other comprising Glu-B3c, B3d, B3h and B3i. Eight conserved genes were identified among Glu-D3 alleles, except for Glu-D3f. The protein products of the unique active genes in each NIL were detected using protein electrophoresis. Among Glu-3 alleles, the Glu-A3e genotype without i-type LMW-GS performed worst in almost all quality properties. Glu-B3b, B3g and B3i showed better quality parameters than the other Glu-B3 alleles, whereas the Glu-B3c allele containing s-type genes with low expression levels had an inferior effect on bread-making quality. Due to the conserved genes at Glu-D3 locus, Glu-D3 alleles showed no significant differences in effects on all quality parameters. Conclusions This work

  2. Isolation of bifidobacteria for blood group secretor status targeted personalised nutrition

    Directory of Open Access Journals (Sweden)

    Harri Mäkivuokko

    2012-06-01

    Full Text Available Background: Currently, there is a constant need to find microbial products for maintaining or even improving host microbiota balance that could be targeted to a selected consumer group. Blood group secretor status, determining the ABO status, could be used to stratify the consumer group. Objective: We have applied a validated upper intestinal tract model (TIM-1 and culturing methods to screen potential probiotic bacteria from faeces of blood secretor and non-secretor individuals. Design: Faecal samples from healthy volunteers were pooled to age- and sex-matched secretor and non-secretor pools. Faecal pools were run through separate TIM-1 simulations, and bacteria were cultivated from samples taken at different stages of simulations for characterisation. Results: Microbes in secretor pool survived the transit through TIM-1 system better than microbes of non-secretor pool, especially bifidobacteria and anaerobes were highly affected. The differences in numbers of bifidobacteria and lactobacilli isolates after plate cultivations and further the number of distinct RAPD-genotypes was clearly lower in non-secretor pool than in secretor pool. Conclusions: In the present study, we showed that microbiota of secretor and non-secretor individuals tolerate gastrointestinal conditions differently and that a combination of gastrointestinal simulations and cultivation methods proved to be a promising tool for isolating potentially probiotic bacteria.

  3. Sensitive typing of reverse ABO blood groups with a waveguide-mode sensor.

    Science.gov (United States)

    Uno, Shigeyuki; Tanaka, Torahiko; Ashiba, Hiroki; Fujimaki, Makoto; Tanaka, Mutsuo; Hatta, Yoshihiro; Takei, Masami; Awazu, Koichi; Makishima, Makoto

    2018-07-01

    Portable, on-site blood typing methods will help provide life-saving blood transfusions to patients during an emergency or natural calamity, such as significant earthquakes. We have previously developed waveguide-mode (WM) sensors for forward ABO and Rh(D) blood typing and detection of antibodies against hepatitis B virus and hepatitis C virus. In this study, we evaluated a WM-sensor for reverse ABO blood typing. Since reverse ABO blood typing is a method for detection of antibodies against type A and type B oligosaccharide antigens on the surface of red blood cells (RBCs), we fixed a synthetic type A or type B trisaccharide antigen on the sensor chip of the WM sensor. We obtained significant changes in the reflectance spectra from a WM sensor on type A antigen with type B plasma and type O plasma and on type B antigen with type A plasma and type O plasma, and no spectrum changes on type A antigen or type B antigen with type AB plasma. Signal enhancement with the addition of a peroxidase reaction failed to increase the sensitivity for detection on oligosaccharide chips. By utilizing hemagglutination detection using regent type A and type B RBCs, we successfully determined reverse ABO blood groups with higher sensitivity compared to a method using oligosaccharide antigens. Thus, functionality of a portable device utilizing a WM sensor can be expanded to include reverse ABO blood typing and, in combination with forward ABO typing and antivirus antibody detection, may be useful for on-site blood testing in emergency settings. Copyright © 2018 The Society for Biotechnology, Japan. Published by Elsevier B.V. All rights reserved.

  4. Procedures for identifying S-allele genotypes of Brassica.

    Science.gov (United States)

    Wallace, D H

    1979-11-01

    Procedures are described for efficient selection of: (1) homozygous and heterozygous S-allele genotypes; (2) homozygous inbreds with the strong self- and sib-incompatibility required for effective seed production of single-cross F1 hybrids; (3) heterozygous genotypes with the high self- and sib-incompatibility required for effective seed production of 3- and 4-way hybrids.From reciprocal crosses between two first generation inbred (I1) plants there are three potential results: both crosses are incompatible; one is incompatible and the other compatible; and both are compatible. Incompatibility of both crosses is useful information only when combined with data from other reciprocal crosses. Each compatible cross, depending on whether its reciprocal is incompatible or compatible, dictates alternative reasoning and additional reciprocal crosses for efficiently and simultaneously identifying: (A) the S-allele genotype of all individual I1 plants, and (B) the expressions of dominance or codominance in pollen and stigma (sexual organs) of an S-allele heterozygous genotype. Reciprocal crosses provide the only efficient means of identifying S-allele genotypes and also the sexual-organ x S-allele-interaction types.Fluorescent microscope assay of pollen tube penetration into the style facilitates quantitation within 24-48 hours of incompatibility and compatibility of the reciprocal crosses. A procedure for quantitating the reciprocal difference is described that maximizes informational content of the data about interactions between S alleles in pollen and stigma of the S-allele-heterozygous genotype.Use of the non-inbred Io generation parent as a 'known' heterozygous S-allele genotype in crosses with its first generation selfed (I1) progeny usually reduces at least 7 fold the effort required for achieving objectives 1, 2, and 3, compared to the method of making reciprocal crosses only among I1 plants.Identifying the heterozygous and both homozygous S-allele genotypes during

  5. HLA class II alleles and the presence of circulating Epstein-Barr virus DNA in greek patients with nasopharyngeal carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Karanikiotis, C. [424 Army General Hospital, Thessaloniki (Greece); Daniilidis, M.; Karyotis, N.; Nikolaou, A. [AHEPA Hospital, Aristotle Univ. of Thessaloniki School of Medicine (Greece); Bakogiannis, C. [Hygeia Hospital, Athens (Greece); Economopoulos, T. [' Attikon' Univ. Hospital, Athens (Greece); Murray, S. [Metropolitan Hospital, Athens (Greece); Papamichael, D. [Bank of Cyprus Oncology Center, Nicosia, Cyprus (Greece); Samantas, E. [' Agii Anargiri' Cancer Hospital, Athens (Greece); Skoura, L. [' Hippokration' Hospital, Thessaloniki (Greece); Tselis, N.; Zamboglou, N. [Dept. of Radiotherapy, Offenbach Hospital (Germany); Fountzilas, G. [' Papageorgiou' Hospital, Aristotle Univ. of Thessaloniki School of Medicine (Greece)

    2008-06-15

    Background and purpose: nasopharyngeal carcinoma (NPC) represents a seldom malignancy in most developed countries. Nevertheless, NPC receives an endemic form in concrete racial entities. The aims of this study were to detect the presence of Epstein-Barr virus DNA (EBV-DNA) in peripheral blood of NPC patients, to molecularly define human leukocyte antigens (HLA) DRB1*, DQA1* and DQB1* allele frequencies, and, finally, to determine whether the genetic predisposition of an individual to NPC depends on the liability to EBV infection. Patients and methods: a total of 101 patients of Hellenic origin and nationality, with histologically proven NPC, participated in this study. EBV-DNA detection was also applied in 66 patients with EBV-related malignancies (Hodgkin's [HL] and non-Hodgkin's lymphoma [NHL]) and infectious mononucleosis (IM), as well as in 80 healthy EBV-seropositive controls. Results: 81% of the NPC patients, 77.8% with HL, 72.2% with NHL, and 66.7% with IM were EBV-DNA positive, whereas the EBV genome was detected only in 15% of the healthy controls. These differences were statistically significant in all cases. Analysis of HLA class II antigens showed decreased frequency of the DRB1*07 (p = 0.003), DQA1*0103 (p = 0.002), and DQA1*0201 (p = 0.003) alleles among NPC patients. A significant association between the HLA-DR/DQ alleles and the presence of EBV-DNA in peripheral whole blood was not established. Conclusion: circulating EBV-DNA and specific HLA class II alleles may predispose to or protect from NPC. However, the results of this study suggest that the genetic predisposition of an individual to NPC is independent of the liability to EBV infection. (orig.)

  6. A Simple, High-Throughput Assay for Fragile X Expanded Alleles Using Triple Repeat Primed PCR and Capillary Electrophoresis

    Science.gov (United States)

    Lyon, Elaine; Laver, Thomas; Yu, Ping; Jama, Mohamed; Young, Keith; Zoccoli, Michael; Marlowe, Natalia

    2010-01-01

    Population screening has been proposed for Fragile X syndrome to identify premutation carrier females and affected newborns. We developed a PCR-based assay capable of quickly detecting the presence or absence of an expanded FMR1 allele with high sensitivity and specificity. This assay combines a triplet repeat primed PCR with high-throughput automated capillary electrophoresis. We evaluated assay performance using archived samples sent for Fragile X diagnostic testing representing a range of Fragile X CGG-repeat expansions. Two hundred five previously genotyped samples were tested with the new assay. Data were analyzed for the presence of a trinucleotide “ladder” extending beyond 55 repeats, which was set as a cut-off to identify expanded FMR1 alleles. We identified expanded FMR1 alleles in 132 samples (59 premutation, 71 full mutation, 2 mosaics) and normal FMR1 alleles in 73 samples. We found 100% concordance with previous results from PCR and Southern blot analyses. In addition, we show feasibility of using this assay with DNA extracted from dried-blood spots. Using a single PCR combined with high-throughput fragment analysis on the automated capillary electrophoresis instrument, we developed a rapid and reproducible PCR-based laboratory assay that meets many of the requirements for a first-tier test for population screening. PMID:20431035

  7. Ancestry informative markers and complete blood count parameters in Brazilian blood donors

    Directory of Open Access Journals (Sweden)

    Gabriela E. S. Felix

    Full Text Available A complete blood count is very useful in clinical diagnoses when reference ranges are well established for the population. Complete blood counts and allele frequencies of Ancestry Informative Markers (AIMs were analyzed in Brazilians with the aim of characterizing the hematological values of an admixed population. Positive associations were observed between gender and neutrophils, monocytes, eosinophils, erythrocytes, hemoglobin, hematocrit, MCV, MCHC and platelet counts. No significant differences were found for age, alcohol consumption, educational status, ethnicity, smoking in respect to the complete blood count values. In general, men had higher red blood cell values, while women had higher values for white blood cells and platelets. The study of the population was highly heterogeneous with mean proportions (± SE of African, European and Amerindian ancestry being 49.0 ± 3.0%, 44.0 ± 9.0% and 7.0 ± 9.0%, respectively. Amerindian ancestry showed limited contribution to the makeup of the population, but estimated ancestral proportions were statistically significant (r = 0.9838; P<0.001. These hematologic values are similar to Afro-Americans, another admixed population.

  8. Frequency and correlation of lip prints, fingerprints and ABO blood groups in population of Sriganganagar District, Rajasthan.

    Science.gov (United States)

    Sandhu, Harpreet; Verma, Pradhuman; Padda, Sarfaraz; Raj, Seetharamaiha Sunder

    2017-11-01

    To investigate the frequency and uniqueness of different lip print patterns, fingerprint patterns in relation to gender and ABO Rh blood groups among a semi-urban population of Sriganganagar, Rajasthan. The study was conducted on 1200 healthy volunteers aged 18-30 years. The cheiloscopic and dermatographic data of each subject were obtained and were analysed according to the Suzuki and Tsuchihashi and Henry systems of classification, respectively. Two forensic experts analyzed the patterns independently. The ABO Rh blood group was also recorded for each subject. The Chi square statistical analysis was done and tests were considered significant when p value blood group was noted as most common in both genders while least common were A- among males and AB- in females. Type II lip pattern was most predominant while the least common was Type I' in males and Type I' and Type V in females. The UL fingerprint pattern was the most common, while RL was least noted in both genders. All the fingerprint patterns showed correlation with different lip print patterns. A correlation was found between different blood groups and lip print patterns except Type I (vertical) lip pattern. A positive correlation was observed between all the blood groups and fingerprint patterns, except for RL pattern. There is an association between lip print patterns, fingerprint patterns and ABO blood groups in both the genders. Thus, correlating the uniqueness of these physical evidences sometimes helps the forensic team members in accurate personal identification or it can at least narrow the search for an individual where there are no possible data referring to the identity of the subject. Copyright © 2017 by Academy of Sciences and Arts of Bosnia and Herzegovina.

  9. The distribution of blood group antigens in experimentally produced carcinomas of rat palate

    DEFF Research Database (Denmark)

    Reibel, J; Philipsen, H P; Fisker, A V

    1986-01-01

    palate induced by a chemical carcinogen (4NQO). The H antigen, normally expressed on spinous cells in rats, was absent in malignant epithelium, whereas staining for the B antigen, normally expressed on basal cells, was variable. These changes are equivalent to those seen in human squamous cell carcinomas....... The blood group antigen staining pattern in experimentally produced verrucous carcinomas showed an almost normal blood group antigen expression. This may have diagnostic significance. Localized areas of hyperplastic palatal epithelium with slight dysplasia revealed loss of H antigen and the presence of B...... antigen in suprabasal strata equivalent to the pattern seen in human premalignant epithelium. We conclude from these findings, that the rat model is well suited to study changes in cell surface carbohydrates during chemical carcinogenesis....

  10. Direct detection of the AR-E211 G > A gene polymorphism from blood and tissue samples without DNA isolation.

    Science.gov (United States)

    Reptova, Silvie; Trtkova, Katerina Smesny; Kolar, Zdenek

    2014-04-01

    The pathogenesis of prostate cancer (CaP) involves alterations in a gene structure of the androgen receptor (AR). The single nucleotide polymorphism AR-E211 G > A localized in exon 1 of the AR gene (G1733A) was detected using direct polymerase chain reaction and restriction digestion (PCR-RFLP) method on blood and tissue samples without prior DNA isolation. We used blood samples of patients with a diagnosis of benign prostatic hyperplasia (BPH) or CaP. From monitored group of CaP patients were selected specimen in formalin-fixed paraffin-embedded tissue blocks with morphology of BPH and CaP. The main objective of our study was to develop a method based the direct PCR-RFLP analysis from blood and tissue without prior DNA isolation for faster genotyping analysis of a large number of samples. We found no statistically significant differences in allelic % of the AR-E211 G > A polymorphism between BPH and CaP patients (p ≤ 0.8462). Genotyping of the AR-E211 G > A variant in blood was not identical with tumor tissue genotyping analysis. Significant agreement between blood and tissue AR-E211 G > A polymorphism only in non-tumor tissue focus was confirmed. Although we analyzed a limited number of the tissue samples, we suppose that a presence of the minor allele A may be associated with cancer transformation-induced changes of the modified AR gene.

  11. Determination of ABO blood grouping from human oral squamous epithelium by the highly sensitive immunohistochemical staining method EnVision+.

    Science.gov (United States)

    Noda, Hiroshi; Yokota, Makoto; Tatsumi, Shinji; Sugiyama, Shizuyuki

    2002-03-01

    Using the highly sensitive immunohistochemical staining method EnVision+, which employs a dextran polymer reagent for the secondary antibody, the detection of the ABH antigens was attempted in the oral squamous epithelium. This new technique uses monoclonal antibody as a primary antibody and it takes about three hours for staining. The time is much shorter than conventional absorption-elution testing or absorption-inhibition testing for the determination of ABO blood grouping. Secretor saliva samples were stained at strong intensity by the antibody, which corresponded to its blood group and anti-H. On the one hand, nonsecretor saliva samples were stained at strong intensity only by the antibody that corresponded to its blood group, and at weak intensity only by anti-H. Since human oral squamous epithelium antigens were stained specifically by this method, we can examine the ABO blood group of saliva samples and perform cytodiagnosis at the same time. Our research suggested that the EnVision+ Method is a useful technique for ABO blood grouping of saliva in forensic cases.

  12. Drop-out probabilities of IrisPlex SNP alleles

    DEFF Research Database (Denmark)

    Andersen, Jeppe Dyrberg; Tvedebrink, Torben; Mogensen, Helle Smidt

    2013-01-01

    In certain crime cases, information about a perpetrator's phenotype, including eye colour, may be a valuable tool if no DNA profile of any suspect or individual in the DNA database matches the DNA profile found at the crime scene. Often, the available DNA material is sparse and allelic drop-out...... of true alleles is possible. As part of the validation of the IrisPlex assay in our ISO17025 accredited, forensic genetic laboratory, we estimated the probability of drop-out of specific SNP alleles using 29 and 30 PCR cycles and 25, 50 and 100 Single Base Extension (SBE) cycles. We observed no drop-out...... when the amount of DNA was greater than 125 pg for 29 cycles of PCR and greater than 62 pg for 30 cycles of PCR. With the use of a logistic regression model, we estimated the allele specific probability of drop-out in heterozygote systems based on the signal strength of the observed allele...

  13. Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation.

    Science.gov (United States)

    Pauwels, Sara; Ghosh, Manosij; Duca, Radu Corneliu; Bekaert, Bram; Freson, Kathleen; Huybrechts, Inge; A S Langie, Sabine; Koppen, Gudrun; Devlieger, Roland; Godderis, Lode

    2017-01-02

    Maternal nutrition is critically involved in the development and health of the fetus. We evaluated maternal methyl-group donor intake through diet (methionine, betaine, choline, folate) and supplementation (folic acid) before and during pregnancy in relation to global DNA methylation and hydroxymethylation and gene specific (IGF2 DMR, DNMT1, LEP, RXRA) cord blood methylation. A total of 115 mother-infant pairs were enrolled in the MAternal Nutrition and Offspring's Epigenome (MANOE) study. The intake of methyl-group donors was assessed using a food-frequency questionnaire. LC-MS/MS and pyrosequencing were used to measure global and gene specific methylation, respectively. Dietary intake of methyl-groups before and during pregnancy was associated with changes in LEP, DNMT1, and RXRA cord blood methylation. Statistically significant higher cord blood LEP methylation was observed when mothers started folic acid supplementation more than 6 months before conception compared with 3-6 months before conception (34.6 ± 6.3% vs. 30.1 ± 3.6%, P = 0.011, LEP CpG1) or no folic acid used before conception (16.2 ± 4.4% vs. 13.9 ± 3%, P = 0.036 for LEP CpG3 and 24.5 ± 3.5% vs. 22.2 ± 3.5%, P = 0.045 for LEP mean CpG). Taking folic acid supplements during the entire pregnancy resulted in statistically significantly higher cord blood RXRA methylation as compared with stopping supplementation in the second trimester (12.3 ± 1.9% vs. 11.1 ± 2%, P = 0.008 for RXRA mean CpG). To conclude, long-term folic acid use before and during pregnancy was associated with higher LEP and RXRA cord blood methylation, respectively. To date, pregnant women are advised to take a folic acid supplement of 400 µg/day from 4 weeks before until 12 weeks of pregnancy. Our results suggest significant epigenetic modifications when taking a folic acid supplement beyond the current advice.

  14. Glucose buffer is suitable for blood group conversion with α-N acetylgalactosaminidase and α-galactosidase.

    Science.gov (United States)

    Gao, Hong-Wei; Li, Su-Bo; Bao, Guo-Qiang; Zhang, Xue; Li, Hui; Wang, Ying-Li; Tan, Ying-Xia; Ji, Shou-Ping; Gong, Feng

    2014-01-01

    It is well known that the buffer plays a key role in the enzymatic reaction involved in blood group conversion. In previous study, we showed that a glycine buffer is suitable for A to O or B to O blood group conversion. In this study, we investigated the use of 5% glucose and other buffers for A to O or B to O blood group conversion by α-N-acetylgalactosaminidase or α-galactosidase. We compared the binding ability of α-N-acetylgalactosaminidase/α-galactosidase with red blood cells (RBC) in different reaction buffers, such as normal saline, phosphate-buffered saline (PBS), a disodium hydrogen phosphate-based buffer (PCS), and 5% commercial glucose solution. The doses of enzymes necessary for the A/B to O conversion in different reaction buffers were determined and compared. The enzymes' ability to bind to RBC was evaluated by western blotting, and routine blood typing and fluorescence activated cell sorting was used to evaluate B/A to O conversion efficiency. The A to O conversion efficiency in glucose buffer was similar to that in glycine buffer with the same dose (>0.06 mg/mL pRBC). B to O conversion efficiency in glucose buffer was also similar to that in glycine buffer with the same dose (>0.005 mg/mL pRBC). Most enzymes could bind with RBC in glycine or glucose buffer, but few enzymes could bind with RBC in PBS, PCS, or normal saline. These results indicate that 5% glucose solution provides a suitable condition for enzymolysis, especially for enzymes combining with RBC. Meanwhile, the conversion efficiency of A/B to O was similar in glucose buffer and glycine buffer. Moreover, 5% glucose solution has been used for years in venous transfusion, it is safe for humans and its cost is lower. Our results do, therefore, suggest that 5% glucose solution could become a novel suitable buffer for A/B to O blood group conversion.

  15. Quantitative threefold allele-specific PCR (QuanTAS-PCR) for highly sensitive JAK2 V617F mutant allele detection

    International Nuclear Information System (INIS)

    Zapparoli, Giada V; Jorissen, Robert N; Hewitt, Chelsee A; McBean, Michelle; Westerman, David A; Dobrovic, Alexander

    2013-01-01

    The JAK2 V617F mutation is the most frequent somatic change in myeloproliferative neoplasms, making it an important tumour-specific marker for diagnostic purposes and for the detection of minimal residual disease. Sensitive quantitative assays are required for both applications, particularly for the monitoring of minimal residual disease, which requires not only high sensitivity but also very high specificity. We developed a highly sensitive probe-free quantitative mutant-allele detection method, Quantitative Threefold Allele-Specific PCR (QuanTAS-PCR), that is performed in a closed-tube system, thus eliminating the manipulation of PCR products. QuantTAS-PCR uses a threefold approach to ensure allele-specific amplification of the mutant sequence: (i) a mutant allele-specific primer, (ii) a 3′dideoxy blocker to suppress false-positive amplification from the wild-type template and (iii) a PCR specificity enhancer, also to suppress false-positive amplification from the wild-type template. Mutant alleles were quantified relative to exon 9 of JAK2. We showed that the addition of the 3′dideoxy blocker suppressed but did not eliminate false-positive amplification from the wild-type template. However, the addition of the PCR specificity enhancer near eliminated false-positive amplification from the wild-type allele. Further discrimination between true and false positives was enabled by using the quantification cycle (Cq) value of a single mutant template as a cut-off point, thus enabling robust distinction between true and false positives. As 10,000 JAK2 templates were used per replicate, the assay had a sensitivity of 1/10 -4 per replicate. Greater sensitivity could be reached by increasing the number of replicates analysed. Variation in replicates when low mutant-allele templates were present necessitated the use of a statistics-based approach to estimate the load of mutant JAK2 copies. QuanTAS-PCR showed comparable quantitative results when validated against a

  16. Emergency transfusion of patients with unknown blood type with blood group O Rhesus D positive red blood cell concentrates: a prospective, single-centre, observational study.

    Science.gov (United States)

    Selleng, Kathleen; Jenichen, Gregor; Denker, Kathrin; Selleng, Sixten; Müllejans, Bernd; Greinacher, Andreas

    2017-05-01

    Emergency patients with unknown blood type usually receive O Rhesus D negative (RhD-) red blood cell concentrates until their blood group is determined to prevent RhD+ related adverse transfusion reactions. As 85% of individuals are RhD+, this consumption of O RhD- red blood cell concentrates contributes to shortages of O RhD- red blood cell concentrates, sometimes forcing transfusion of known RhD- patients with RhD+ red blood cell concentrates. Here we report the outcome of this transfusion policy transfusing all emergency patients with unknown blood type with O RhD+ red blood cell concentrates. In this prospective single-centre observational study done between Jan 1, 2001, and Dec 31, 2015, we assessed all consecutive RhD- patients at the University Medicine Greifswald who received RhD+ red blood cell concentrates (emergency patients with unknown blood type; and RhD- patients receiving RhD+ red blood cell concentrates during RhD- red blood cell concentrate shortages). No patients were excluded. The primary endpoint was anti-D allo-immunisation at 2 months follow-up or later. Patients were followed up and tested for immunisation against red blood cell antigens using the direct antiglobulin test and an antibody screen every 3-5 days for 4 weeks or until death, or hospital discharge. Surviving patients were screened for development of anti-D antibodies for up to 12 months (at the predefined timepoints 2, 3, 6, and 12 months) after RhD+ red blood cell transfusion. 437 emergency patients, of whom 85 (20%) were RhD-, received 2836 RhD+ red blood cell concentrates. The overall risk of inducing anti-D antibodies (in all 437 recipients) was 17 (4%, 95% CI 2·44-6·14) of 437 (assuming all patients lost to follow-up developed anti-D allo-immunisation). During this period, 110 known RhD- patients received RhD+ red blood cell concentrates during RhD- red blood cell concentrate shortages. Of these, 29 (26%; 95% CI 19·0-35·3) developed anti-D allo-immunisation (assuming all

  17. Prevalence of Diego blood group antigen and the antibody in three ethnic population groups in Klang valley of Malaysia

    Directory of Open Access Journals (Sweden)

    Cheong Tar Wei

    2013-01-01

    Full Text Available Background: Diego blood group antigen, Di(a, is very rare among Caucasians and Blacks, but relatively common among the South American Indians and Asians of Mongolian origin. The antibody to Di(a is clinically significant to cause hemolytic disease in a new-born or hemolytic transfusion reaction. Objectives: This study was designed to determine the prevalence of Di(a antigen among the blood donors from the three major ethnic groups in Klang Valley of Malaysia as well as to find an incidence of an antibody of the Diego antigen, anti-Di(a, in a tertiary care hospital to ascertain the need to include Di(a+ red cells for an antibody screen cell panel. Materials and Methods: Serological tests were performed by column agglutination technique using commercial reagents and following instruction as per kit insert. Results: Di(a antigen was found with a frequency of 2.1% among the Malaysians donors in three ethnic groups viz, Malay, Chinese and Indian. It was present among 1.25% of 401 Malay, 4.01% of Chinese and 0.88% of 114 Indian origin donors. None of the 1442 patients, including 703 antenatal outpatients, had anti-Di(a in serum. Conclusion: The prevalence of Di(a antigen was found among the donors of all the three ethnic background with varying frequency. Inclusion of Di(a+ red cells in routine antibody screening program would certainly help in detection of this clinically significant antibody and to provide safe blood transfusion in the Klang Valley, though the incidence of antibody appears to be very low in the region.

  18. Prevalence of Diego blood group antigen and the antibody in three ethnic population groups in Klang valley of Malaysia.

    Science.gov (United States)

    Wei, Cheong Tar; Al-Hassan, Faisal Muti; Naim, Norris; Knight, Aishah; Joshi, Sanmukh R

    2013-01-01

    Diego blood group antigen, Di(a), is very rare among Caucasians and Blacks, but relatively common among the South American Indians and Asians of Mongolian origin. The antibody to Di(a) is clinically significant to cause hemolytic disease in a new-born or hemolytic transfusion reaction. This study was designed to determine the prevalence of Di(a) antigen among the blood donors from the three major ethnic groups in Klang Valley of Malaysia as well as to find an incidence of an antibody of the Diego antigen, anti-Di(a), in a tertiary care hospital to ascertain the need to include Di(a+) red cells for an antibody screen cell panel. Serological tests were performed by column agglutination technique using commercial reagents and following instruction as per kit insert. Di(a) antigen was found with a frequency of 2.1% among the Malaysians donors in three ethnic groups viz, Malay, Chinese and Indian. It was present among 1.25% of 401 Malay, 4.01% of Chinese and 0.88% of 114 Indian origin donors. None of the 1442 patients, including 703 antenatal outpatients, had anti-Di(a) in serum. The prevalence of Di(a) antigen was found among the donors of all the three ethnic background with varying frequency. Inclusion of Di(a+) red cells in routine antibody screening program would certainly help in detection of this clinically significant antibody and to provide safe blood transfusion in the Klang Valley, though the incidence of antibody appears to be very low in the region.

  19. Determination of leukemia-associated gene rearrangements and ultrastructural changes in Chernobyl accident liquidators blood leukocytes long term after radiation exposure

    International Nuclear Information System (INIS)

    Butenko, Z.A.; Smirnova, I.A.; Yanok, E.A.; Kishinskaya, E.G.; Zak, K.P.; Afanas'eva, V.V.; Mikhajlovskaya, Eh.V.

    1997-01-01

    The results of ultrastructural and molecular-genetic investigations of blood cells from 120 liquidators 7-10 years after Chernobyl accident with the total exposure radiation doses ranging from 5.1 to 75.0 cGy are presented. Electron microscopic studies revealed marked changes in ultrastructure of neutrophils nuclei - hyper segmentation, whimsical prominences, loops, swelling and destruction of cytoplasmic granules. There was an increase in the number of 'aberrant' forms of lymphocytes with disturbed structure of chromatin, additional nuclei and changed membrane contour. Structural polymorphism of the leukemia associated bcr and ribosomal RNA (rRNA) genes were studied using Southern blot hybridization. Allelic polymorphism of bcr gene with characteristic for chronic myeloid leukemia allele distribution and rearrangements of eRNA genes were detected in 11.5% of accident liquidators. This data point out to structure-functional leucocyte changes and possibility of arising leukemia associated gene rearrangements in blood cells of some liquidators many years after the exposure to radiation and serve for determination of group at risk of oncohematological diseases

  20. A population frequency analysis of the FABP2 gene polymorphism

    African Journals Online (AJOL)

    salah

    DNA was extracted from blood samples for genotype analysis. A PCR-RFLP ... Thr54 genotype. The frequencies of the allele Ala54 and the allele Thr54 of the .... Table 2: Genotype percentages and allele frequencies of FABP2 polymorphism in various ethnic groups. Study Group (n). Genotype %. Allele frequency. P. (vs.

  1. Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites

    Directory of Open Access Journals (Sweden)

    Arnett Donna

    2009-08-01

    Full Text Available Abstract Background Variations in gene allele frequencies can contribute to differences in the prevalence of some common complex diseases among populations. Natural selection modulates the balance in allele frequencies across populations. Population differentiation (FST can evidence environmental selection pressures. Such genetic information is limited in Puerto Ricans, the second largest Hispanic ethnic group in the US, and a group with high prevalence of chronic disease. We determined allele frequencies and population differentiation for 101 single nucleotide polymorphisms (SNPs in 30 genes involved in major metabolic and disease-relevant pathways in Puerto Ricans (n = 969, ages 45–75 years and compared them to similarly aged non-Hispanic whites (NHW (n = 597. Results Minor allele frequency (MAF distributions for 45.5% of the SNPs assessed in Puerto Ricans were significantly different from those of NHW. Puerto Ricans carried risk alleles in higher frequency and protective alleles in lower frequency than NHW. Patterns of population differentiation showed that Puerto Ricans had SNPs with exceptional FST values in intronic, non-synonymous and promoter regions. NHW had exceptional FST values in intronic and promoter region SNPs only. Conclusion These observations may serve to explain and broaden studies on the impact of gene polymorphisms on chronic diseases affecting Puerto Ricans.

  2. Correlation Between HLA-A, B and DRB1 Alleles and Severe Fever with Thrombocytopenia Syndrome.

    Directory of Open Access Journals (Sweden)

    Shu-Jun Ding

    2016-10-01

    Full Text Available Severe fever with thrombocytopenia syndrome (SFTS is an emerging hemorrhagic fever caused by a tick-borne bunyavirus (SFTSV in East Asian countries. The role of human leukocyte antigen (HLA in resistance and susceptibility to SFTSV is not known. We investigated the correlation of HLA locus A, B and DRB1 alleles with the occurrence of SFTS.A total of 84 confirmed SFTS patients (patient group and 501 unrelated non-SFTS patients (healthy individuals as control group from Shandong Province were genotyped by PCR-sequence specific oligonucleotide probe (PCR-SSOP for HLA-A, B and DRB1 loci.Allele frequency was calculated and compared using χ2 test or the Fisher's exact test. A corrected P value was calculated with a bonferronis correction. Odds Ratio (OR and 95% confidence intervals (CI were calculated by Woolf's method.A total of 11 HLA-A, 23 HLA-B and 12 HLA-DRB1 alleles were identified in the patient group, whereas 15 HLA-A, 30 HLA-B and 13 HLA-DRB1 alleles were detected in the control group. The frequencies of A*30 and B*13 in the SFTS patient group were lower than that in the control group (P = 0.0341 and 0.0085, Pc = 0.5115 and 0.252. The ORs of A*30 and B*13 in the SFTS patient group were 0.54 and 0.49, respectively. The frequency of two-locus haplotype A*30-B*13 was lower in the patient group than in the control group(5.59% versus 12.27%, P = 0.037,OR = 0.41, 95%CI = 0.18-0.96 without significance(Pc>0.05. A*30-B*13-DRB1*07 and A*02-B*15-DRB1*04 had strong associations with SFTS resistance and susceptibility respectively (Pc = 0.0412 and 0.0001,OR = 0.43 and 5.07.The host HLA class I polymorphism might play an important role with the occurrence of SFTS. Negative associations were observed with HLA-A*30, HLA-B*13 and Haplotype A*30-B*13, although the associations were not statistically significant. A*30-B*13-DRB1*07 had negative correlation with the occurrence of SFTS; in contrast, haplotype A*02-B*15-DRB1*04 was positively correlated with SFTS.

  3. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer's disease

    International Nuclear Information System (INIS)

    Lannfelt, L.; Lilius, L.; Viitanen, M.; Winblad, B.; Basun, H.; Houlden, H.; Rossor, M.; Hardy, J.

    1995-01-01

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer's disease families, as it is closely linked to the gene. Most cases of Alzheimer's disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer's disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.)

  4. Perioperative treatment of hemophilia A patients: blood group O patients are at risk of bleeding complications.

    Science.gov (United States)

    Hazendonk, H C A M; Lock, J; Mathôt, R A A; Meijer, K; Peters, M; Laros-van Gorkom, B A P; van der Meer, F J M; Driessens, M H E; Leebeek, F W G; Fijnvandraat, K; Cnossen, M H

    2016-03-01

    ESSENTIALS: Targeting of factor VIII values is a challenge during perioperative replacement therapy in hemophilia. This study aims to identify the extent and predictors of factor VIII underdosing and overdosing. Blood group O predicts underdosing and is associated with perioperative bleeding. To increase quality of care and cost-effectiveness of treatment, refining of dosing is obligatory. Perioperative administration of factor VIII (FVIII) concentrate in hemophilia A may result in both underdosing and overdosing, leading to respectively a risk of bleeding complications and unnecessary costs. This retrospective observational study aims to identify the extent and predictors of underdosing and overdosing in perioperative hemophilia A patients (FVIII levels < 0.05 IU mL(-1)). One hundred nineteen patients undergoing 198 elective, minor, or major surgical procedures were included (median age 40 years, median body weight 75 kg). Perioperative management was evaluated by quantification of perioperative infusion of FVIII concentrate and achieved FVIII levels. Predictors of underdosing and (excessive) overdosing were analyzed by logistic regression analysis. Excessive overdosing was defined as upper target level plus ≥ 0.20 IU mL(-1). Depending on postoperative day, 7-45% of achieved FVIII levels were under and 33-75% were above predefined target ranges as stated by national guidelines. A potential reduction of FVIII consumption of 44% would have been attained if FVIII levels had been maintained within target ranges. Blood group O and major surgery were predictive of underdosing (odds ratio [OR] 6.3, 95% confidence interval [CI] 2.7-14.9; OR 3.3, 95% CI 1.4-7.9). Blood group O patients had more bleeding complications in comparison to patients with blood group non-O (OR 2.02, 95% CI 1.00-4.09). Patients with blood group non-O were at higher risk of overdosing (OR 1.5, 95% CI 1.1-1.9). Additionally, patients treated with bolus infusions were at higher risk of excessive

  5. Mucosal Blood Group Antigen Expression Profiles and HIV Infections: A Study among Female Sex Workers in Kenya.

    Directory of Open Access Journals (Sweden)

    Nadia Musimbi Chanzu

    Full Text Available The ABO blood group antigens are carbohydrate moieties expressed on human red blood cells however; these antigens can also be expressed on some other cells particularly the surface of epithelial cells and may be found in mucosal secretions. In many human populations 80% secrete ABO antigens (termed 'secretors' while 20% do not (termed 'non-secretors'. Furthermore, there are disease conditions that are associated with secretor status.To investigate correlations between secretor status and HIV infection among female sex workers in Nairobi, Kenya.This cross-sectional study recruited 280 female sex workers aged 18-65 years from the Pumwani Majengo cohort, Kenya. Blood typing was determined by serological techniques using monoclonal antibodies to the ABO blood group antigens. Secretor phenotyping was determined using anti-H specific lectins specific to salivary, vaginal and cervical blood group H antigen using the agglutination inhibition technique and correlated to individual HIV sero-status. Participants were additionally screened for Bacterial vaginosis, Neisseria gonorrhoea and Trichomonas vaginalis.Out of the 280 participants, 212 (75.7% were secretors and 68 (24.3% were non-secretors. The incidence of all infections: HIV, Bacterial vaginosis, Neisseria gonorrhoea and Trichomonas vaginalis was higher among secretors compared to non-secretors. However, this difference was only statistically significant for HIV infection incidence rates: HIV infected secretors (83.7% versus HIV un-infected secretors (71.8% (p = 0.029 Based on ABO phenotype stratification, the incidence of HIV infection was higher among blood group A secretors (26/52 = 50%, in comparison to B (12/39 = 33.3%: p = 0.066, AB (3/9 = 33.3%: p = 0.355, and O secretors (36/112 = 32.1%: p = 0.028.This is the first report to document the variable expression of the ABH blood group antigens profiling secretor and non-secretor phenotypes in the female genital tract among a high-risk population

  6. AB0 blood groups and rhesus factor expression as prognostic parameters in patients with epithelial ovarian cancer - a retrospective multi-centre study.

    Science.gov (United States)

    Seebacher, Veronika; Polterauer, Stephan; Reinthaller, Alexander; Koelbl, Heinz; Achleitner, Regina; Berger, Astrid; Concin, Nicole

    2018-04-19

    AB0 blood groups and Rhesus factor expression have been associated with carcinogenesis, response to treatment and tumor progression in several malignancies. The aim of the present study was to test the hypothesis that AB0 blood groups and Rhesus factor expression are associated with clinical outcome in patients with epithelial ovarian cancer (EOC). AB0 blood groups and Rhesus factor expression were evaluated in a retrospective multicenter study including 518 patients with EOC. Their association with patients' survival was assessed using univariate and multivariable analyses. Neither AB0 blood groups nor Rhesus factor expression were associated with clinico-pathological parameters, recurrence-free, cancer-specific, or overall survival. In a subgroup of patients with high-grade serous adenocarcinoma, however, blood groups B and AB were associated with a better 5-year cancer-specific survival rate compared to blood groups A and 0 (60.3 ± 8.6% vs. 43.8 ± 3.6%, p = 0.04). Yet, this was not significant in multivariable analysis. AB0 blood groups and Rhesus factor expression are both neither associated with features of biologically aggressive disease nor clinical outcome in patients with EOC. Further investigation of the role of the blood group B antigen on cancer-specific survival in the subgroup of high-grade serous should be considered.

  7. Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots.

    Science.gov (United States)

    Baker, Christopher L; Petkova, Pavlina; Walker, Michael; Flachs, Petr; Mihola, Ondrej; Trachtulec, Zdenek; Petkov, Petko M; Paigen, Kenneth

    2015-09-01

    Genetic recombination during meiosis functions to increase genetic diversity, promotes elimination of deleterious alleles, and helps assure proper segregation of chromatids. Mammalian recombination events are concentrated at specialized sites, termed hotspots, whose locations are determined by PRDM9, a zinc finger DNA-binding histone methyltransferase. Prdm9 is highly polymorphic with most alleles activating their own set of hotspots. In populations exhibiting high frequencies of heterozygosity, questions remain about the influences different alleles have in heterozygous individuals where the two variant forms of PRDM9 typically do not activate equivalent populations of hotspots. We now find that, in addition to activating its own hotspots, the presence of one Prdm9 allele can modify the activity of hotspots activated by the other allele. PRDM9 function is also dosage sensitive; Prdm9+/- heterozygous null mice have reduced numbers and less active hotspots and increased numbers of aberrant germ cells. In mice carrying two Prdm9 alleles, there is allelic competition; the stronger Prdm9 allele can partially or entirely suppress chromatin modification and recombination at hotspots of the weaker allele. In cell cultures, PRDM9 protein variants form functional heteromeric complexes which can bind hotspots sequences. When a heteromeric complex binds at a hotspot of one PRDM9 variant, the other PRDM9 variant, which would otherwise not bind, can still methylate hotspot nucleosomes. We propose that in heterozygous individuals the underlying molecular mechanism of allelic suppression results from formation of PRDM9 heteromers, where the DNA binding activity of one protein variant dominantly directs recombination initiation towards its own hotspots, effectively titrating down recombination by the other protein variant. In natural populations with many heterozygous individuals, allelic competition will influence the recombination landscape.

  8. Allele-specific MMP-3 transcription under in vivo conditions

    Energy Technology Data Exchange (ETDEWEB)

    Chaoyong, Zhu [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Odeberg, Jacob [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Department of Biotechnology, AlbaNova University Center, Royal Institute of Technology, Stockholm (Sweden); Hamsten, Anders [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Eriksson, Per [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden)

    2006-09-29

    A common matrix metalloproteinases-3 (MMP-3) -1612 5A/6A promoter polymorphism is associated with risk for cardiovascular disease, rheumatoid arthritis, and other diseases. Here we used the haplotype chromatin immunoprecipitation method to study allele-specific MMP-3 expression under in vivo conditions in heterozygous THP-1 cells. Pyrosequencing was used to analyse the ratio of 5A-allele to 6A-allele after chromatin immunoprecipitation using an antibody against phosphorylated active RNA polymerase II. There was no allele-specific difference in transcriptional activity during basal conditions, i.e., in unstimulated monocytic THP-1 cells. However, after stimulation of MMP-3 expression by monocyte differentiation or incubation with IL-1{beta}, the haplotype containing the 5A-allele was associated with higher transcriptional activity compared with the 6A-containing haplotype. Electromobility shift assay demonstrated increased binding of nuclear proteins to the 5A-allele after monocyte differentiation. In conclusion, the common MMP-3 5A/6A promoter polymorphism appears to be functional only during specific environmental conditions involving inflammation.

  9. SSR allelic variation in almond (Prunus dulcis Mill.).

    Science.gov (United States)

    Xie, Hua; Sui, Yi; Chang, Feng-Qi; Xu, Yong; Ma, Rong-Cai

    2006-01-01

    Sixteen SSR markers including eight EST-SSR and eight genomic SSRs were used for genetic diversity analysis of 23 Chinese and 15 international almond cultivars. EST- and genomic SSR markers previously reported in species of Prunus, mainly peach, proved to be useful for almond genetic analysis. DNA sequences of 117 alleles of six of the 16 SSR loci were analysed to reveal sequence variation among the 38 almond accessions. For the four SSR loci with AG/CT repeats, no insertions or deletions were observed in the flanking regions of the 98 alleles sequenced. Allelic size variation of these loci resulted exclusively from differences in the structures of repeat motifs, which involved interruptions or occurrences of new motif repeats in addition to varying number of AG/CT repeats. Some alleles had a high number of uninterrupted repeat motifs, indicating that SSR mutational patterns differ among alleles at a given SSR locus within the almond species. Allelic homoplasy was observed in the SSR loci because of base substitutions, interruptions or compound repeat motifs. Substitutions in the repeat regions were found at two SSR loci, suggesting that point mutations operate on SSRs and hinder the further SSR expansion by introducing repeat interruptions to stabilize SSR loci. Furthermore, it was shown that some potential point mutations in the flanking regions are linked with new SSR repeat motif variation in almond and peach.

  10. A new electrophoresis technique to separate microsatellite alleles ...

    African Journals Online (AJOL)

    A new electrophoresis technique to separate microsatellite alleles* ... African Journal of Biotechnology ... with the CEQTM 8000 Genetic Analysis System and ABI 3130xl DNA Sequencer easily separated products and determined allelic size, ...

  11. Directional Positive Selection on an Allele of Arbitrary Dominance

    OpenAIRE

    Teshima, Kosuke M.; Przeworski, Molly

    2006-01-01

    Most models of positive directional selection assume codominance of the beneficial allele. We examine the importance of this assumption by implementing a coalescent model of positive directional selection with arbitrary dominance. We find that, for a given mean fixation time, a beneficial allele has a much weaker effect on diversity at linked neutral sites when the allele is recessive.

  12. HLA-A, HLA-B, and HLA-DRB1 Allele and Haplotype Frequencies in Renal Transplant Candidates in a Population in Southern Brazil.

    Science.gov (United States)

    Saito, Patrícia Keiko; Yamakawa, Roger Haruki; Noguti, Erika Noda; Bedendo, Gustavo Borelli; Júnior, Waldir Veríssimo da Silva; Yamada, Sérgio Seiji; Borelli, Sueli Donizete

    2016-05-01

    Very few studies have examined the diversity of human leukocyte antigens (HLA) in the Brazilian renal transplant candidates. The frequencies of the HLA-A, HLA-B, and HLA-DRB1 alleles, haplotypes and phenotypes were studied in 522 patients with chronic renal failure, renal transplant candidates, registered at the Transplant Centers in north/northwestern Paraná State, southern Brazil. Patients were classified according to the ethnic group (319 whites [Caucasians], 134 mestizos [mixed race descendants of Europeans, Africans, and Amerindians; browns or "pardos"] and 69 blacks). The HLA typing was performed by the polymerase chain reaction sequence-specific oligonucleotide method (PCR-SSO), combined with Luminex technology. In the analysis of the total samples, 20 HLA-A, 32 HLA-B, and 13 HLA-DRB1 allele groups were identified. The most frequent allele groups for each HLA locus were HLA-A*02 (25.4%), HLA-B*44 (10.9%), and HLA-DRB1*13 (13.9%). The most frequent haplotypes were HLA-A*01-B*08-DRB1*03 (2.3%), A*02-B*44-DRB1*07 (1.2%), and A*03-B*07-DRB1*11 (1.0%). Significant differences (P < 0.05) were observed in the HLA-A*68, B*08, and B*58 allele frequencies among ethnic groups. This study provides the first data on the HLA-A, HLA-B, and HLA-DRB1 allele, phenotype and haplotype frequencies of renal transplant candidates in a population in southern Brazil. © 2015 Wiley Periodicals, Inc.

  13. Reduced Height (Rht) Alleles Affect Wheat Grain Quality.

    Science.gov (United States)

    Casebow, Richard; Hadley, Caroline; Uppal, Rajneet; Addisu, Molla; Loddo, Stefano; Kowalski, Ania; Griffiths, Simon; Gooding, Mike

    2016-01-01

    The effects of dwarfing alleles (reduced height, Rht) in near isogenic lines on wheat grain quality are characterised in field experiments and related to effects on crop height, grain yield and GA-sensitivity. Alleles included those that conferred GA-insensitivity (Rht-B1b, Rht-B1c, Rht-D1b, Rht-D1c) as well as those that retained GA-sensitivity (rht(tall), Rht8, Rht8 + Ppd-D1a, Rht12). Full characterisation was facilitated by including factors with which the effects of Rht alleles are known to interact for grain yield (i.e. system, [conventional or organic]; tillage intensity [plough-based, minimum or zero]; nitrogen fertilizer level [0-450 kg N/ha]; and genetic backgrounds varying in height [cvs Maris Huntsman, Maris Widgeon, and Mercia]. Allele effects on mean grain weight and grain specific weight were positively associated with final crop height: dwarfing reduced these quality criteria irrespective of crop management or GA-sensitivity. In all but two experiments the effects of dwarfing alleles on grain nitrogen and sulphur concentrations were closely and negatively related to effects on grain yield, e.g. a quadratic relationship between grain yield and crop height manipulated by the GA-insensitive alleles was mirrored by quadratic relationships for nitrogen and sulphur concentrations: the highest yields and most dilute concentrations occurred around 80cm. In one of the two exceptional experiments the GA-insensitive Rht-B1b and Rht-B1c significantly (Pgrain nitrogen concentration in the absence of an effect on yield, and in the remaining experiment the GA-sensitive Rht8 significantly reduced both grain yield and grain nitrogen concentration simultaneously. When Rht alleles diluted grain nitrogen concentration, N:S ratios and SDS-sedimentation volumes were often improved. Hagberg falling number (HFN) was negatively related to crop height but benefits from dwarfing were only seen for GA-insensitive alleles. For HFN, therefore, there was the strongest evidence for

  14. Allelic variation of bile salt hydrolase genes in Lactobacillus salivarius does not determine bile resistance levels.

    LENUS (Irish Health Repository)

    Fang, Fang

    2009-09-01

    Commensal lactobacilli frequently produce bile salt hydrolase (Bsh) enzymes whose roles in intestinal survival are unclear. Twenty-six Lactobacillus salivarius strains from different sources all harbored a bsh1 allele on their respective megaplasmids. This allele was related to the plasmid-borne bsh1 gene of the probiotic strain UCC118. A second locus (bsh2) was found in the chromosomes of two strains that had higher bile resistance levels. Four Bsh1-encoding allele groups were identified, defined by truncations or deletions involving a conserved residue. In vitro analyses showed that this allelic variation was correlated with widely varying bile deconjugation phenotypes. Despite very low activity of the UCC118 Bsh1 enzyme, a mutant lacking this protein had significantly lower bile resistance, both in vitro and during intestinal transit in mice. However, the overall bile resistance phenotype of this and other strains was independent of the bsh1 allele type. Analysis of the L. salivarius transcriptome upon exposure to bile and cholate identified a multiplicity of stress response proteins and putative efflux proteins that appear to broadly compensate for, or mask, the effects of allelic variation of bsh genes. Bsh enzymes with different bile-degrading kinetics, though apparently not the primary determinants of bile resistance in L. salivarius, may have additional biological importance because of varying effects upon bile as a signaling molecule in the host.

  15. Erasure and reestablishment of random allelic expression imbalance after epigenetic reprogramming.

    Science.gov (United States)

    Jeffries, Aaron Richard; Uwanogho, Dafe Aghogho; Cocks, Graham; Perfect, Leo William; Dempster, Emma; Mill, Jonathan; Price, Jack

    2016-10-01

    Clonal level random allelic expression imbalance and random monoallelic expression provides cellular heterogeneity within tissues by modulating allelic dosage. Although such expression patterns have been observed in multiple cell types, little is known about when in development these stochastic allelic choices are made. We examine allelic expression patterns in human neural progenitor cells before and after epigenetic reprogramming to induced pluripotency, observing that loci previously characterized by random allelic expression imbalance (0.63% of expressed genes) are generally reset to a biallelic state in induced pluripotent stem cells (iPSCs). We subsequently neuralized the iPSCs and profiled isolated clonal neural stem cells, observing that significant random allelic expression imbalance is reestablished at 0.65% of expressed genes, including novel loci not found to show allelic expression imbalance in the original parental neural progenitor cells. Allelic expression imbalance was associated with altered DNA methylation across promoter regulatory regions, with clones characterized by skewed allelic expression being hypermethylated compared to their biallelic sister clones. Our results suggest that random allelic expression imbalance is established during lineage commitment and is associated with increased DNA methylation at the gene promoter. © 2016 Jeffries et al.; Published by Cold Spring Harbor Laboratory Press for the RNA Society.

  16. distribution of abo, rhesus blood groups and haemoglobin ...

    African Journals Online (AJOL)

    Daniel Owu

    fetal blood leaks through the placenta and mixes with the mother's blood, the mother ... competence of the blood to supply oxygen to the tissue (Weatherall, ... on a tile and mixed with three drops of water to lyse the red cells. With the aid of an ...

  17. No evidence for a direct effect of von Willebrand factor's ABH blood group antigens on von Willebrand factor clearance

    NARCIS (Netherlands)

    Groeneveld, D J; van Bekkum, T; Cheung, K L; Dirven, R J; Castaman, G; Reitsma, P H; van Vlijmen, B; Eikenboom, J

    BACKGROUND: One of the major determinants of von Willebrand factor (VWF) plasma levels is ABO blood group status, and individuals with blood group O have ~ 25% lower plasma levels. The exact mechanism behind this relationship remains unknown, although effects on clearance have been postulated.

  18. Multiplex ligation-dependent probe amplification (MLPA) assay for blood group genotyping, copy number quantification, and analysis of RH variants

    NARCIS (Netherlands)

    Veldhuisen, Barbera; van der Schoot, C. E.; de Haas, Masja

    2015-01-01

    The blood group multiplex ligation-dependent probe amplification (MLPA) is a comprehensive assay, developed for genotyping the majority of clinically relevant blood group antigens in both patients and donors. The MLPA is an easy method to apply and only requires a thermal cycler and capillary

  19. Prevalence of anti‑A and anti‑B hemolysis among blood group O ...

    African Journals Online (AJOL)

    Background: Group O donor blood is more readily available and is frequently used as universal red cell donor in our environment. The presence of hemolysins in the donors may however lead to hemolysis in the recipients. Attempts have been made to study the prevalence of hemolysins in various populations with results ...

  20. Prevalence of anti‑A and anti‑B hemolysis among blood group O ...

    African Journals Online (AJOL)

    2014-10-20

    Oct 20, 2014 ... Background: Group O donor blood is more readily available and is frequently used as universal red cell donor in our environment. The presence of hemolysins in the donors may however lead to hemolysis in the recipients. Attempts have been made to study the prevalence of hemolysins in various ...

  1. ABO blood groups: A risk factor for left atrial and left atrial appendage thrombogenic milieu in patients with non-valvular atrial fibrillation.

    Science.gov (United States)

    Fu, Yuan; Li, Kuibao; Yang, Xinchun

    2017-08-01

    Previous studies have identified ABO blood groups as predictors of thromboembolic diseases. In patients with atrial fibrillation (AF), however, potential association between ABO blood groups and the risk of left atrial (LA) and/or left atrial appendage (LAA) thrombogenic milieu (TM) has not been established. This is a retrospective case-control study that included 125 consecutive patients with non-valvular atrial fibrillation (NVAF) plus TM, as evidenced by transesophageal echocardiography (TEE) during a period from1 January 2010 to 31 December 2016. The controls were selected randomly from 1072 NVAF without TM at a 1:2 ratio. Potential association between ABO blood groups and TM was analyzed using multivariate logistic regression analysis. The risk of TM was higher in patients with blood group A (33.6% vs. 20.2% in non-A blood groups, P=0.005). After adjusting for age, sex, oral anticoagulant use, AF type and duration, and relevant functional measures (e.g., NT-pro BNP level, left atrium diameter, and left ventricular ejection fraction), blood group A remained associated with an increased risk of TM (OR=2.99, 95% CI 1.4-6.388, P=0.005). Blood group A is an independent risk factor for TM in NVAF patients. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Association Analysis of FOXO3 Longevity Variants With Blood Pressure and Essential Hypertension.

    Science.gov (United States)

    Morris, Brian J; Chen, Randi; Donlon, Timothy A; Evans, Daniel S; Tranah, Gregory J; Parimi, Neeta; Ehret, Georg B; Newton-Cheh, Christopher; Seto, Todd; Willcox, D Craig; Masaki, Kamal H; Kamide, Kei; Ryuno, Hirochika; Oguro, Ryosuke; Nakama, Chikako; Kabayama, Mai; Yamamoto, Koichi; Sugimoto, Ken; Ikebe, Kazunori; Masui, Yukie; Arai, Yasumichi; Ishizaki, Tatsuro; Gondo, Yasuyuki; Rakugi, Hiromi; Willcox, Bradley J

    2016-11-01

    The minor alleles of 3 FOXO3 single nucleotide polymorphisms (SNPs)- rs2802292 , rs2253310 , and rs2802288 -are associated with human longevity. The aim of the present study was to test these SNPs for association with blood pressure (BP) and essential hypertension (EHT). In a primary study involving Americans of Japanese ancestry drawn from the Family Blood Pressure Program II we genotyped 411 female and 432 male subjects aged 40-79 years and tested for statistical association by contingency table analysis and generalized linear models that included logistic regression adjusting for sibling correlation in the data set. Replication of rs2802292 with EHT was attempted in Japanese SONIC study subjects and of each SNP in a meta-analysis of genome-wide association studies of BP in individuals of European ancestry. In Americans of Japanese ancestry, women homozygous for the longevity-associated (minor) allele of each FOXO3 SNP had 6mm Hg lower systolic BP and 3mm Hg lower diastolic BP compared with major allele homozygotes (Bonferroni corrected P 0.05, respectively). Frequencies of minor allele homozygotes were 3.3-3.9% in women with EHT compared with 9.5-9.6% in normotensive women ( P = 0.03-0.04; haplotype analysis P = 0.0002). No association with BP or EHT was evident in males. An association with EHT was seen for the minor allele of rs2802292 in the Japanese SONIC cohort ( P = 0.03), while in European subjects the minor allele of each SNP was associated with higher systolic and diastolic BP. Longevity-associated FOXO3 variants may be associated with lower BP and EHT in Japanese women.

  3. Blood group AB is protective factor for gestational diabetes mellitus: a prospective population-based study in Tianjin, China.

    Science.gov (United States)

    Zhang, Cuiping; Li, Yi; Wang, Leishen; Sun, Shurong; Liu, Gongshu; Leng, Junhong; Guo, Jia; Lv, Li; Li, Weidong; Zhang, Cuilin; Hu, Gang; Yu, Zhijie; Yang, Xilin

    2015-09-01

    The ABO blood types are associated with cancers, cardiovascular diseases and type 2 diabetes mellitus but whether they are also associated with gestational diabetes mellitus (GDM) is unknown. We examined the relationship between the ABO blood types and the risk of GDM in a prospective population-based Chinese cohort. From 2010 to 2012, we recruited 14,198 pregnant women within the first 12 weeks of gestation in Tianjin, China. All women had a glucose challenge test (GCT) at 24-28 gestational weeks, followed by a 75-g 2-h oral glucose tolerance test if the results from GCT were ≥7.8 mmol/L. GDM was diagnosed based on the glucose cut-points of the International Association of Diabetes and Pregnancy Study Group criteria. Logistic regression was used to obtain odds ratios (ORs) and 95% confidence intervals (CIs) adjusted for traditional risk factors. Stratified analysis was performed by family history of diabetes (yes versus no). Sensitivity analyses were also performed by using the World Health Organization (WHO) criteria for GDM. Women with blood groups A, B or O (i.e. non-AB) were associated with increased risk of GDM as compared with those with blood group AB (adjusted OR: 1.44, 95% CI: 1.13-1.83). Sensitivity analyses showed that the result was consistent using WHO criteria. The adjusted OR of blood group non-AB versus AB for GDM was enhanced among women with a family history of diabetes (2.69, 1.21-5.96) and attenuated among those without (1.33, 1.03-1.71). Blood group AB was a protective factor against GDM in pregnant Chinese women. Copyright © 2015 John Wiley & Sons, Ltd.

  4. Glycophorin C (Gerbich Antigen Blood Group) and Band 3 Polymorphisms in Two Malaria Holoendemic Regions of Papua New Guinea

    Science.gov (United States)

    Patel, Sheral S.; King, Christopher L.; Mgone, Charles S.; Kazura, James W.; Zimmerman, Peter A.

    2013-01-01

    The geographic overlap between the prevalence of erythrocyte polymorphisms and malaria endemicity is thought to be an example of natural selection on human populations. In Papua New Guinea (PNG), the Gerbich-negative phenotype is caused by an exon 3 deletion in the glycophorin C gene (GYPCΔex3) while heterozygosity for a 27-base pair deletion in the SLC4A1 gene (anion exchanger 1 or erythrocyte membrane protein, band 3), SLC4A1Δ27, results in Southeast Asian ovalocytosis. Two geographically and ethnically distinct malaria endemic regions of PNG (the Wosera [East Sepik Province] and Liksul [Madang Province]) were studied to illustrate the distribution of two prominent deletion polymorphisms (GYPCΔex3 and SLC4A1Δ27) and to determine if the genetic load associated with SLC4A1Δ27 would constrain independent assortment of GYPCΔex3 heterozygous and homozygous genotypes. The frequency of the GYPCΔex3 allele was higher in the Wosera (0.463) than Liksul (0.176) (χ2; P < 0.0001). Conversely, the frequency of the SLC4A1Δ27 allele was higher in Liksul (0.0740) than the Wosera (0.0005) (χ2; P < 0.0001). No individuals were homozygous for SLC4A1Δ27. In 355 Liksul residents, independent assortment of these two deletion polymorphisms resulted in 14 SLC4A1Δ27 carriers heterozygous for GYPCΔex3 and one SLC4A1Δ27 carrier homozygous for GYPCΔex3 (Fisher’s exact test; P = 0.8040). While homozygosity for SLC4A1Δ27 appears to be nonviable, the GYPCΔex3 allele is not lethal when combined with SLC4A1Δ27. Neither mutation was associated with altered susceptibility to asymptomatic Plasmodium falciparum or P. vivax infection. While these erythrocyte polymorphisms apparently have no effect on blood-stage malaria infection, their contribution to susceptibility to clinical malaria morbidity requires further study. PMID:14695625

  5. HLA Class II Alleles Susceptibility Markers of Type 1 Diabetes Fail to Specify Phenotypes of Ketosis-Prone Diabetes in Adult Tunisian Patients

    Directory of Open Access Journals (Sweden)

    Lilia Laadhar

    2011-01-01

    Full Text Available We aimed to characterize the different subgroups of ketosis-prone diabetes (KPD in a sample of Tunisian patients using the Aβ scheme based on the presence or absence of β-cell autoantibodies (A+ or A− and β-cell functional reserve (β+ or β− and we investigated whether HLA class II alleles could contribute to distinct KPD phenotypes. We enrolled 43 adult patients with a first episode of ketosis. For all patients we evaluated clinical parameters, β-cell autoimmunity, β-cell function and HLA class II alleles. Frequency distribution of the 4 subgroups was 23.3% A+β−, 23.3% A−β−, 11.6% A+β+ and 41.9% A−β+. Patients from the group A+β− were significantly younger than those from the group A−β− (P=.002. HLA susceptibility markers were significantly more frequent in patients with autoantibodies (P=.003. These patients also had resistance alleles but they were more frequent in A+β+ than A+β− patients (P=.04. Insulin requirement was not associated to the presence or the absence of HLA susceptibility markers. HLA class II alleles associated with susceptibility to autoimmune diabetes have not allowed us to further define Tunisian KPD groups. However, high prevalence of HLA resistance alleles in our patients may reflect a particular genetic background of Tunisian KPD population.

  6. Allelic deletions of cell growth regulators during progression of bladder cancer

    DEFF Research Database (Denmark)

    Primdahl, H; von der Maase, H; Christensen, M

    2000-01-01

    Cell growth regulators include proteins of the p53 pathway encoded by the genes CDKN2A (p16, p14arf), MDM2, TP53, and CDKN1A (p21) as well as proteins encoded by genes like RB1, E2F, and MYCL. In the present study we investigated allelic deletions of all these genes in each recurrent bladder tumor...... difference in the numbers of gene loci hit by deletions muscle-invasive versus noninvasive tumors (P = 0.0000002), with the genes most often hit by deletions in muscle-invasive tumors being TP53, RB1, and MYCL. A number of novel findings were made. Losses of MYCL and RB1 alleles were more pronounced...... that a characteristic difference between recurrent noninvasive and recurrent progressing bladder tumors is loss of cell cycle-regulatory genes in the latter group....

  7. HLA alleles and haplotypes in Burmese (Myanmarese) and Karen in Thailand.

    Science.gov (United States)

    Kongmaroeng, C; Romphruk, A; Puapairoj, C; Leelayuwat, C; Kulski, J K; Inoko, H; Dunn, D S; Romphruk, A V

    2015-09-01

    This is the first report on human leukocyte antigen (HLA) allele and haplotype frequencies at three class I loci and two class II loci in unrelated healthy individuals from two ethnic groups, 170 Burmese and 200 Karen, originally from Burma (Myanmar), but sampled while residing in Thailand. Overall, the HLA allele and haplotype frequencies detected by polymerase chain reaction sequence-specific primer (PCR-SSP) at five loci (A, B, C, DRB1 and DRQB1) at low resolution showed distinct differences between the Burmese and Karen. In Burmese, five HLA-B*15 haplotypes with different HLA-A and HLA-DR/DQ combinations were detected with three of these not previously reported in other Asian populations. The data are important in the fields of anthropology, transplantation and disease-association studies. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Study of Cytochrome P450 2E1 and its allele Variants in Liver Injury of Nondiabetic, Nonalcoholic Steatohepatitis Obese Women

    Directory of Open Access Journals (Sweden)

    NELSON M VARELA

    2008-01-01

    Full Text Available CYP2E1 enzyme is related to nonalcoholic steatohepatitis (NASH due to its ability for reactive oxygen species production, which can be influenced by polymorphisms in the gene. The aim of this study was to investigate hepatic levels, activity, and polymorphisms of the CYP2E1 gene to correlate it with clinical and histological features in 48 female obese NASH patients. Subjects were divided into three groups: (i normal; (ii steatosis; and (iii steatohepatitis. CYP2E1 protein level was assayed in microsomes from liver biopsies, and in vivo chlorzoxazone hydroxylation was determined by HPLC. Genomic DNA was isolated for genotype analysis through PCR. The results showed that liver CYP2E1 content was significantly higher in the steatohepatitis (45%; p=0.024 and steatosis (22%; p=0.032 group compared with normal group. Chlorzoxazone hydroxylase activity showed significant enhancement in the steatohepatitis group (15%, p=0.027 compared with the normal group. c2 rare allele of RsallPstl polymorphisms but no C allele of Dral polymorphism was positively associated with CHZ hydroxylation, which in turn is correlated with liver CYP2E1 content (r=0.59; p=0.026. In conclusion, c2 allele is positively associated with liver injury in NASH. This allele may determine a higher transcriptional activity of the gene, with consequent enhancement in pro-oxidant activity of CYP2E1 thus affording liver toxicity

  9. Association between diabetes type 1 and DQB1 alleles in a case-control study conducted in Montevideo, Uruguay.

    Science.gov (United States)

    Mimbacas, Adriana; Pérez-Bravo, Francisco; Hidalgo, Pedro C; Javiel, Gerardo; Pisciottano, Carmen; Grignola, Rosario; Jorge, Ana María; Gallino, Juan Pablo; Gasagoite, Jackeline; Cardoso, Horacio

    2003-03-31

    We studied HLA DQB1 allele frequencies and the relative risk (RR) of various genotypes in 72 type 1 diabetic patients and 40 control individuals in Uruguay. This is a tri-racial (Caucasian, Black and Indo-American) mixed population. The products of the polymerase chain reaction amplifications were hybridized with oligonucleotides by allele-specific oligonucleotide reverse or dot blot methods. Significant differences between these two groups were observed only for allele DQB1*0302 (35%, RR = 7.34, P<0.001). The frequency of the alleles carrying a non-aspartic acid residue at position 57 was significantly higher in the diabetic patients (85 vs 53%, P<0.001). In contrast, the frequency of Asp alleles was negatively associated with type 1 diabetes (RR = 0.20, P<0.001). The genotype DQB1*0302/DQB1*0201 (33%, RR = 5.41, P<0.05) was positively associated with this disease. The genotype frequencies associated with type 1 diabetes in our population were significantly different from what is known for Caucasian and Black populations as well as compared with another admixed population, from Chile.

  10. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Lannfelt, L; Lilius, L; Viitanen, M; Winblad, B; Basun, H [Huddinge Hospital, Karolinska Institute, Dept. of Geriatric Medicine, (Sweden); Houlden, H; Rossor, M [St. Mary` s Hospital, Dept. of Neurology, Medical School, London (United Kingdom); Hardy, J [University of South Florida, Suncoast Alzheimer` s Disease Research Labs, Department of Psychiatry, Tampa (United States)

    1995-02-01

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer`s disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer`s disease families, as it is closely linked to the gene. Most cases of Alzheimer`s disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer`s disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.).

  11. Reduced Height (Rht Alleles Affect Wheat Grain Quality.

    Directory of Open Access Journals (Sweden)

    Richard Casebow

    Full Text Available The effects of dwarfing alleles (reduced height, Rht in near isogenic lines on wheat grain quality are characterised in field experiments and related to effects on crop height, grain yield and GA-sensitivity. Alleles included those that conferred GA-insensitivity (Rht-B1b, Rht-B1c, Rht-D1b, Rht-D1c as well as those that retained GA-sensitivity (rht(tall, Rht8, Rht8 + Ppd-D1a, Rht12. Full characterisation was facilitated by including factors with which the effects of Rht alleles are known to interact for grain yield (i.e. system, [conventional or organic]; tillage intensity [plough-based, minimum or zero]; nitrogen fertilizer level [0-450 kg N/ha]; and genetic backgrounds varying in height [cvs Maris Huntsman, Maris Widgeon, and Mercia]. Allele effects on mean grain weight and grain specific weight were positively associated with final crop height: dwarfing reduced these quality criteria irrespective of crop management or GA-sensitivity. In all but two experiments the effects of dwarfing alleles on grain nitrogen and sulphur concentrations were closely and negatively related to effects on grain yield, e.g. a quadratic relationship between grain yield and crop height manipulated by the GA-insensitive alleles was mirrored by quadratic relationships for nitrogen and sulphur concentrations: the highest yields and most dilute concentrations occurred around 80cm. In one of the two exceptional experiments the GA-insensitive Rht-B1b and Rht-B1c significantly (P<0.05 reduced grain nitrogen concentration in the absence of an effect on yield, and in the remaining experiment the GA-sensitive Rht8 significantly reduced both grain yield and grain nitrogen concentration simultaneously. When Rht alleles diluted grain nitrogen concentration, N:S ratios and SDS-sedimentation volumes were often improved. Hagberg falling number (HFN was negatively related to crop height but benefits from dwarfing were only seen for GA-insensitive alleles. For HFN, therefore, there

  12. Pneumococcal polysaccharide vaccination elicits IgG anti-AB blood group antibodies in healthy individuals and patients with Type I diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Wendelin Wolfram

    2016-11-01

    Full Text Available Hypothesis: Blood group antibodies are natural antibodies that develop early in life in response to cross-reactive environmental antigens in the absence of antigen encounter. Even later in life structural similarities in saccharide composition between environmental antigens such as bacterial polysaccharides and blood group A/B antigens could lead to changes in serum levels, IgM/IgG isotype and affinity maturation of blood group anti-A/B antibodies. We adressed the question whether immunization with pneumococcal polysaccharide (PnP vaccine (PPV Pneumovax®23 could have such an effect in patients with with type I diabetes mellitus (DM I, an autoimmune disease where an aberrant immune response to microbial antigens likely plays a role.Methods: Anti-PnP IgM and IgG responses were determined by ELISA and the Diamed-ID Micro Typing System was used to screen anti-A/B antibody titer before and after Pneumovax®23 immunization in 28 healthy individuals and 16 patients with DM I. In addition, surface plasmon resonance (SPR technology using the Biacore® device and a synthetic blood group A/B trisaccharide as the antigen was applied to investigate IgM and IgG anti-A/B antibodies and to measure antibody binding dynamics. Results: All healthy individuals and DM I patients responded with anti-PnP IgM and IgG antibody production four to six weeks after Pneumovax®23 (Pn23 immunization, while no increase in blood group anti-A/B antibody titer was observed when measured by the Diamed-ID Micro Typing System. Interestingly, isotype-specific testing by SPR-technology revealed an increase in blood group anti-A/B IgG, but not IgM, following Pn23 immunization in both patients and controls. No change in binding characteristics of blood group anti-A/B antibodies could be detected following Pn23 vaccination, supporting the assumption of an increase in IgG antibody titer with no or very little affinity maturation.Conclusion: The study provides evidence for epitope sharing

  13. Blood group typing based on recording the elastic scattering of laser radiation using the method of digital imaging

    Energy Technology Data Exchange (ETDEWEB)

    Dolmashkin, A A; Dubrovskii, V A; Zabenkov, I V [V.I.Razumovsky Saratov State Medical University, Saratov (Russian Federation)

    2012-05-31

    The possibility is demonstrated to determine the human blood group by recording the scattering of laser radiation with the help of the digital imaging method. It is experimentally shown that the action of a standing ultrasound wave leads to acceleration of the agglutination reaction of red blood cells, to formation of larger immune complexes of red blood cells, and, as a consequence, to acceleration of their sedimentation. In the absence of agglutination of red blood cells the ultrasound does not enhance the relevant processes. This difference in the results of ultrasound action on the mixture of blood and serum allows a method of blood typing to be offered. Theoretical modelling of the technique of the practical blood typing, carried out on the basis of the elastic light scattering theory, agrees well with the experimental results, which made it possible to plan further improvement of the proposed method. The studies of specific features of sedimentation of red blood cells and their immune complexes were aimed at the optimisation of the sample preparation, i.e., at the search for such experimental conditions that provide the maximal resolution of the method and the device for registering the reaction of red blood cells agglutination. The results of the study may be used in designing the instrumentation for blood group assessment in humans.

  14. Blood group typing based on recording the elastic scattering of laser radiation using the method of digital imaging

    International Nuclear Information System (INIS)

    Dolmashkin, A A; Dubrovskii, V A; Zabenkov, I V

    2012-01-01

    The possibility is demonstrated to determine the human blood group by recording the scattering of laser radiation with the help of the digital imaging method. It is experimentally shown that the action of a standing ultrasound wave leads to acceleration of the agglutination reaction of red blood cells, to formation of larger immune complexes of red blood cells, and, as a consequence, to acceleration of their sedimentation. In the absence of agglutination of red blood cells the ultrasound does not enhance the relevant processes. This difference in the results of ultrasound action on the mixture of blood and serum allows a method of blood typing to be offered. Theoretical modelling of the technique of the practical blood typing, carried out on the basis of the elastic light scattering theory, agrees well with the experimental results, which made it possible to plan further improvement of the proposed method. The studies of specific features of sedimentation of red blood cells and their immune complexes were aimed at the optimisation of the sample preparation, i.e., at the search for such experimental conditions that provide the maximal resolution of the method and the device for registering the reaction of red blood cells agglutination. The results of the study may be used in designing the instrumentation for blood group assessment in humans.

  15. Allele and Genotype Distributions of DNA Repair Gene Polymorphisms in South Indian Healthy Population

    Directory of Open Access Journals (Sweden)

    Katiboina Srinivasa Rao

    2014-01-01

    Full Text Available Various DNA repair pathways protect the structural and chemical integrity of the human genome from environmental and endogenous threats. Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response. In this study, we aim to establish the normative frequencies of DNA repair genes in South Indian healthy population and compare with HapMap populations. Genotyping was done on 128 healthy volunteers from South India, and the allele and genotype distributions were established. The minor allele frequency of Xeroderma pigmentosum group A ( XPA G23A, Excision repair cross-complementing 2 ( ERCC2 /Xeroderma pigmentosum group D ( XPD Lys751Gln, Xeroderma pigmentosum group G ( XPG His46His, XPG Asp1104His, and X-ray repair cross-complementing group 1 ( XRCC1 Arg399Gln polymorphisms were 49.2%, 36.3%, 48.0%, 23.0%, and 34.0% respectively. Ethnic variations were observed in the frequency distribution of these polymorphisms between the South Indians and other HapMap populations. The present work forms the groundwork for cancer association studies and biomarker identification for treatment response and prognosis.

  16. RESEARCH REGARDING THE FREQUENCY AND TRANSMISSION OF AB0 BLOOD GROUPS IN A POPULATION OF PUPILS FROM ROMAN, NEAMŢ COUNTY

    Directory of Open Access Journals (Sweden)

    Ioan Bara

    2007-08-01

    population of school-boys from Roman town, Neamţ County. The blood groups frequency were: 0 = 30%; A = 42%; B = 19%; AB = 9%. These values are in accordance with the values registered for all Romanian population. In Roman town, between 2001-2004, the frequency of blood groups is, also, in accordance with our results. The blood groups 0, B and AB are more frequent in males, and A is more frequent in females. It is, on the other hand, difficult to compare our results with the worldwide situation.

  17. Selection of microsatellite markers for bladder cancer diagnosis without the need for corresponding blood.

    Directory of Open Access Journals (Sweden)

    Angela A G van Tilborg

    Full Text Available Microsatellite markers are used for loss-of-heterozygosity, allelic imbalance and clonality analyses in cancers. Usually, tumor DNA is compared to corresponding normal DNA. However, normal DNA is not always available and can display aberrant allele ratios due to copy number variations in the genome. Moreover, stutter peaks may complicate the analysis. To use microsatellite markers for diagnosis of recurrent bladder cancer, we aimed to select markers without stutter peaks and a constant ratio between alleles, thereby avoiding the need for a control DNA sample. We investigated 49 microsatellite markers with tri- and tetranucleotide repeats in regions commonly lost in bladder cancer. Based on analysis of 50 blood DNAs the 12 best performing markers were selected with few stutter peaks and a constant ratio between peaks heights. Per marker upper and lower cut off values for allele ratios were determined. LOH of the markers was observed in 59/104 tumor DNAs. We then determined the sensitivity of the marker panel for detection of recurrent bladder cancer by assaying 102 urine samples of these patients. Sensitivity was 63% when patients were stratified for LOH in their primary tumors. We demonstrate that up-front selection of microsatellite markers obliterates the need for a corresponding blood sample. For diagnosis of bladder cancer recurrences in urine this significantly reduces costs. Moreover, this approach facilitates retrospective analysis of archival tumor samples for allelic imbalance.

  18. Allelic Variation of Bile Salt Hydrolase Genes in Lactobacillus salivarius Does Not Determine Bile Resistance Levels▿ †

    Science.gov (United States)

    Fang, Fang; Li, Yin; Bumann, Mario; Raftis, Emma J.; Casey, Pat G.; Cooney, Jakki C.; Walsh, Martin A.; O'Toole, Paul W.

    2009-01-01

    Commensal lactobacilli frequently produce bile salt hydrolase (Bsh) enzymes whose roles in intestinal survival are unclear. Twenty-six Lactobacillus salivarius strains from different sources all harbored a bsh1 allele on their respective megaplasmids. This allele was related to the plasmid-borne bsh1 gene of the probiotic strain UCC118. A second locus (bsh2) was found in the chromosomes of two strains that had higher bile resistance levels. Four Bsh1-encoding allele groups were identified, defined by truncations or deletions involving a conserved residue. In vitro analyses showed that this allelic variation was correlated with widely varying bile deconjugation phenotypes. Despite very low activity of the UCC118 Bsh1 enzyme, a mutant lacking this protein had significantly lower bile resistance, both in vitro and during intestinal transit in mice. However, the overall bile resistance phenotype of this and other strains was independent of the bsh1 allele type. Analysis of the L. salivarius transcriptome upon exposure to bile and cholate identified a multiplicity of stress response proteins and putative efflux proteins that appear to broadly compensate for, or mask, the effects of allelic variation of bsh genes. Bsh enzymes with different bile-degrading kinetics, though apparently not the primary determinants of bile resistance in L. salivarius, may have additional biological importance because of varying effects upon bile as a signaling molecule in the host. PMID:19592587

  19. Associations of iron metabolism genes with blood manganese levels: a population-based study with validation data from animal models

    Directory of Open Access Journals (Sweden)

    Claus Henn Birgit

    2011-11-01

    Full Text Available Abstract Background Given mounting evidence for adverse effects from excess manganese exposure, it is critical to understand host factors, such as genetics, that affect manganese metabolism. Methods Archived blood samples, collected from 332 Mexican women at delivery, were analyzed for manganese. We evaluated associations of manganese with functional variants in three candidate iron metabolism genes: HFE [hemochromatosis], TF [transferrin], and ALAD [δ-aminolevulinic acid dehydratase]. We used a knockout mouse model to parallel our significant results as a novel method of validating the observed associations between genotype and blood manganese in our epidemiologic data. Results Percentage of participants carrying at least one copy of HFE C282Y, HFE H63D, TF P570S, and ALAD K59N variant alleles was 2.4%, 17.7%, 20.1%, and 6.4%, respectively. Percentage carrying at least one copy of either C282Y or H63D allele in HFE gene was 19.6%. Geometric mean (geometric standard deviation manganese concentrations were 17.0 (1.5 μg/l. Women with any HFE variant allele had 12% lower blood manganese concentrations than women with no variant alleles (β = -0.12 [95% CI = -0.23 to -0.01]. TF and ALAD variants were not significant predictors of blood manganese. In animal models, Hfe-/- mice displayed a significant reduction in blood manganese compared with Hfe+/+ mice, replicating the altered manganese metabolism found in our human research. Conclusions Our study suggests that genetic variants in iron metabolism genes may contribute to variability in manganese exposure by affecting manganese absorption, distribution, or excretion. Genetic background may be critical to consider in studies that rely on environmental manganese measurements.

  20. BLOOD PROTEIN TRANSFERRIN POLYMOROPHISM IN BLACK BENGAL GOAT

    Directory of Open Access Journals (Sweden)

    Rajesh Paul

    2017-12-01

    Full Text Available The present investigation was carried out with an aim to explore the polymorphism of a blood protein tranferrin using starch gel electrophoresis technique in a total of unrelated 199 Black Bengal goats available in four different districts of West Bengal, India. Banding patterns of transferrin in starch gel revealed six phenovariants TfAA, TfAB, TfBC, TfBB, TfAC and TfCC comprising of three allelomorphs, TfA, TfB and TfC. The genotype frequencies were found to be observed 0.211, 0.347, 0.136, 0.106, 0.136 and 0.065 for six genotypes and the allelic frequencies were 0.452, 0.347 and 0.201 for three alleles, respectively. Result of Chi-square test revealed that the population under study was in Hardy Weinberg Equilibrium. There were polymorphism in Transferrin protein and the presence of differences among the frequencies of the three alleles by categories could be a source of genetic variation in Black Bengal goat.

  1. Relationship of ABO and Rh blood groups with history of gastritis in the undergraduate medical and dental students: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Nilu Manandhar

    2017-12-01

    Full Text Available Background & Objectives: The various ABO and Rh blood groups with different distribution frequencies in the general population have been found to be associated with different diseases, most notably gastritis. Many studies have claimed Rh groups to be indifferent to such association. Nonetheless, ABO group is found to linked with chronic gastritis. The aim of this study was to estimate the frequencies of ABO and Rh blood groups and the gastritis amongst the first and second year undergraduate medical and dental students; and to study their relationships. Materials & Methods: In a descriptive, cross-sectional study, 247 study participants were enrolled. After procuring clearance from the institutional review committee and the informed and written consent from the study participants, data collection was done on the variables, year of study (first or second year, gender, blood groups (ABO and Rh and history of gastritis (present or absent.Results: Blood group O was the commonest (n=99; 40.1% followed by group B (n=77; 31.2%. Similarly, 239 (96.8% participants were Rh-positive as compared to 8 (3.2% Rh-negative. Interestingly, 46 (18.6% of the participants reported positive history of gastritis. Participants with blood group O had the greatest odds (OR=1.64 of having history of gastritis compared with those with other blood groups combined. Distribution of study participants based on gender and history of gastritis in either systems of blood grouping shoed no significant difference in their proportions (p>0.05. Conclusion: In light of the above findings, further longitudinal studies can be designed to better asses the relationship.

  2. Allelic frequencies and association with carcass traits of six genes in local subpopulations of Japanese Black cattle.

    Science.gov (United States)

    Nishimaki, Takahiro; Ibi, Takayuki; Siqintuya; Kobayashi, Naohiko; Matsuhashi, Tamako; Akiyama, Takayuki; Yoshida, Emi; Imai, Kazumi; Matsui, Mayu; Uemura, Keiichi; Eto, Hisayoshi; Watanabe, Naoto; Fujita, Tatsuo; Saito, Yosuke; Komatsu, Tomohiko; Hoshiba, Hiroshi; Mannen, Hideyuki; Sasazaki, Shinji; Kunieda, Tetsuo

    2016-04-01

    Marker-assisted selection (MAS) is expected to accelerate the genetic improvement of Japanese Black cattle. However, verification of the effects of the genes for MAS in different subpopulations is required prior to the application of MAS. In this study, we investigated the allelic frequencies and genotypic effects for carcass traits of six genes, which can be used in MAS, in eight local subpopulations. These genes are SCD, FASN and SREBP1, which are associated with the fatty acid composition of meat, and NCAPG, MC1R and F11, which are associated with carcass weight, coat color and blood coagulation abnormality, respectively. The frequencies of desirable alleles of SCD and FASN were relatively high and that of NCAPG was relatively low, and NCAPG was significantly associated with several carcass traits, including carcass weight. The proportions of genotypic variance explained by NCAPG to phenotypic variance were 4.83 for carcass weight. We thus confirmed that NCAPG is a useful marker for selection of carcass traits in these subpopulations. In addition, we found that the desirable alleles of six genes showed no negative effects on carcass traits. Therefore, selection using these genes to improve target traits should not have negative impacts on carcass traits. © 2015 Japanese Society of Animal Science.

  3. Development of a High Resolution Virulence Allelic Profiling (HReVAP) Approach Based on the Accessory Genome of Escherichia coli to Characterize Shiga-Toxin Producing E. coli (STEC)

    Science.gov (United States)

    Michelacci, Valeria; Orsini, Massimiliano; Knijn, Arnold; Delannoy, Sabine; Fach, Patrick; Caprioli, Alfredo; Morabito, Stefano

    2016-01-01

    Shiga-toxin producing Escherichia coli (STEC) strains possess a large accessory genome composed of virulence genes existing in multiple allelic variants, which sometimes segregate with specific STEC subpopulations. We analyzed the allelic variability of 91 virulence genes of STEC by Real Time PCR followed by melting curves analysis in 713 E. coli strains including 358 STEC. The 91 genes investigated were located on the locus of enterocyte effacement (LEE), OI-57, and OI-122 pathogenicity islands and displayed a total of 476 alleles in the study population. The combinations of the 91 alleles of each strain were termed allelic signatures and used to perform cluster analyses. We termed such an approach High Resolution Virulence Allelic Profiling (HReVAP) and used it to investigate the phylogeny of STEC of multiple serogroups. The dendrograms obtained identified groups of STEC segregating approximately with the serogroups and allowed the identification of subpopulations within the single groups. The study of the allelic signatures provided further evidence of the coevolution of the LEE and OI-122, reflecting the occurrence of their acquisition through a single event. The HReVAP analysis represents a sensitive tool for studying the evolution of LEE-positive STEC. PMID:26941726

  4. R and G color component competition of RGB image decomposition as a criterion to register RBC agglutinates for blood group typing.

    Science.gov (United States)

    Doubrovski, Valeri A; Ganilova, Yuliya A; Zabenkov, Igor V

    2014-03-01

    A new approach of the criterion assignment for registration of erythrocyte agglutinates to instrumentally determine blood group type is suggested. The criterion is based on comparison of R and G components of RGB decomposition of microscopy digital image taken for the blood-serum mixture sample. For the chosen experimental conditions, the minimal size (area) of RBC agglutinate to be registered by the criterion suggested is estimated theoretically. The proposed method was tested experimentally on the example of monitoring agglutinates in flow. The encouraging experimental results were obtained for improvement of the resolving power of the method; the optimal experimental conditions were revealed for maximum resolution. Though the suggested method was realized for dynamic (flow) blood group determination, it could also be applied for diagnostics in a stationary environment. This approach increases the reliability of RBC agglutinates registration and, hence, blood group typing. The results may be used to develop the apparatus for automated determination of human blood group.

  5. FREQUENCY OF ABO AND RHESUS (D) BLOOD GROUPS IN TRIBAL P OPULATION OF MADHYA PRADESH: A STUDY FROM TERTIARY CARE TEACHING HOSPITAL IN MADHYA PRADESH

    OpenAIRE

    Ajit; Dolly

    2015-01-01

    BACKGROUND: ABO and Rh blood groups are most important blood groups in human beings. The frequency of four main blood group systems varies in population throughout the world and even in different parts of country. Objective if this study was to identify distribution o f ABO and Rh blood group system. MATERIALS AND METHODS: Blood samples from 10680 tribals were collected in Jhabua district of Madhya Pradesh during the month of June 2012. Among 10680 tribals, 5670 wer...

  6. Pulse pressure and diabetes treatments: Blood pressure and pulse pressure difference among glucose lowering modality groups in type 2 diabetes.

    Science.gov (United States)

    Alemi, Hamid; Khaloo, Pegah; Mansournia, Mohammad Ali; Rabizadeh, Soghra; Salehi, Salome Sadat; Mirmiranpour, Hossein; Meftah, Neda; Esteghamati, Alireza; Nakhjavani, Manouchehr

    2018-02-01

    Type 2 diabetes is associated with higher pulse pressure. In this study, we assessed and compared effects of classic diabetes treatments on pulse pressure (PP), systolic blood pressure (SBP), and diastolic blood pressure (DBP) in patients with type 2 diabetes.In a retrospective cohort study, 718 non-hypertensive patients with type 2 diabetes were selected and divided into 4 groups including metformin, insulin, glibenclamide+metformin, and metformin+insulin. They were followed for 4 consecutive visits lasting about 45.5 months. Effects of drug regimens on pulse and blood pressure over time were assessed separately and compared in regression models with generalized estimating equation method and were adjusted for age, duration of diabetes, sex, smoking, and body mass index (BMI).Studied groups had no significant change in PP, SBP, and DBP over time. No significant difference in PP and DBP among studied groups was observed (PP:P = 0.090; DBP:P = 0.063). Pairwise comparisons of PP, SBP, and DBP showed no statistically significant contrast between any 2 studied groups. Interactions of time and treatment were not different among groups.Our results demonstrate patients using metformin got higher PP and SBP over time. Averagely, pulse and blood pressure among groups were not different. Trends of variation in pulse and blood pressure were not different among studied diabetes treatments.

  7. SU94. Allele-Specific and Trauma-Related Epigenetic Changes in the FKBP5 Gene: Differences Between Psychotic Patients and Healthy Controls

    Science.gov (United States)

    Mihaljevic, Marina; Franic, Dusica; Soldatovic, Ivan; Andric, Sanja; Mirjanic, Tijana; Novakovic, Ivana; Adzic, Miroslav; Maric, Nadja

    2017-01-01

    Abstract Background: Hypothalamic-pituitary-adrenal (HPA) axis dysregulation is a proposed etiological mechanism of psychosis. Recent studies highlighted impact of the FKBP5 gene and its functional variant rs1360780, which risk (T) allele affects the activity of HPA axis following stress exposure, on psychotic patients exposed to early trauma (1). Additionally, risk allele and trauma dependent FKBP5 demethylation in intron 7 was observed in traumatized individuals (2). Thus, the purpose of this pilot study was to investigate influence of the risk allele and trauma on FKBP5 DNA methylation levels at intron 7 in psychotic patients and to compare it with healthy individuals. Methods: The sample consisted of 24 psychosis spectrum patients and 24 controls matched by age and gender. All participants were genotyped for rs1360780 and divided into 2 groups depending on the presence of the risk allele (risk and nonrisk group). DNA methylation levels at 3 CpG sites (CpG1, CpG2, and CpG3) in intron 7 were analyzed by Sanger sequencing. Early-life adversities were measured by Childhood Trauma Questionnaire. Pearson correlation and t test were performed as appropriate. Results: Analyses revealed decreased FKBP5 methylation at targeted CpG sites and averaged methylation level (AML) at intron 7 in patients compared to controls (P = .026, P = .017, P = .027, and P = .003, respectively). Decreased AML and methylation at CpG3 were observed comparing risk and nonrisk patients’ groups (P = .018 and P = .016, respectively). Additionally, decreased methylation was found in risk patients’ group compared to risk controls’ group. No differences were found comparing nonrisk groups. Furthermore, strong negative associations between trauma and methylation at CpG3 and AML were observed only in risk controls’ group (r = −0.707, P = .007; r = −0.741, P = .004, respectively). Conclusion: Our preliminary results revealed allele-specific epigenetic changes of the FKBP

  8. Direct RNA-based detection of CTX-M β-lactamases in human blood samples.

    Science.gov (United States)

    Stein, Claudia; Makarewicz, Oliwia; Pfeifer, Yvonne; Brandt, Christian; Pletz, Mathias W

    2015-05-01

    Bloodstream infections with ESBL-producers are associated with increased mortality, which is due to delayed appropriate treatment resulting in clinical failure. Current routine diagnostics for detection of bloodstream infections consists of blood culture followed by species identification and susceptibility testing. In attempts to improve and accelerate diagnostic procedures, PCR-based methods have been developed. These methods focus on species identification covering only a limited number of ESBL coding genes. Therefore, they fail to cover the steadily further evolving genetic diversity of clinically relevant β-lactamases. We have recently designed a fast and novel RNA targeting method to detect and specify CTX-M alleles from bacterial cultures, based on an amplification-pyrosequencing approach. We further developed this assay towards a diagnostic tool for clinical use and evaluated its sensitivity and specificity when applied directly to human blood samples. An optimized protocol for mRNA isolation allows detection of specific CTX-M groups from as little as 100 CFU/mL blood via reverse transcription, amplification, and pyrosequencing directly from human EDTA blood samples as well as from pre-incubated human blood cultures with a turnaround time for test results of <7 h. Copyright © 2015 Elsevier GmbH. All rights reserved.

  9. Blood Group Substances as Potential Therapeutic Agents for the Prevention and Treatment of Infection with Noroviruses Proving Novel Binding Patterns in Human Tissues

    Science.gov (United States)

    Yazawa, Shin; Yokobori, Takehiko; Ueta, Gen; Ide, Munenori; Altan, Bolag; Thongprachum, Aksara; Nishimura, Toyo; Nakajima, Tamiko; Kominato, Yoshihiko; Asao, Takayuki; Saniabadi, Abby R.; Furukawa, Kiyoshi; Kuwano, Hiroyuki; Le Pendu, Jacques; Ushijima, Hiroshi

    2014-01-01

    Blood group-related glycans determining ABO and Lewis blood groups are known to function as attachment factors for most of the norovirus (NoV) strains. To identify binding specificity of each NoV, recombinant norovirus-like particles (VLPs) and human saliva samples with different ABO, Lewis phenotypes and secretor status have been commonly applied. When binding specificities of VLPs prepared from 16 different genotypes of NoVs in GI and GII genogroups were characterized in samples of human gastric mucosa compared to human saliva based on blood group phenotypes, considerable differences were observed for several strains. Novel binding specificities determined by an ELISA using preparations from human gastric mucosa were also ascertained by immunohistochemical analyses using human jejunal mucosa, widely believed to be susceptible to NoV infection. Further, A, B and O(H) blood group substances prepared from porcine and squid tissues were found to be effective for preventing ABO blood group-specific binding of VLPs to both saliva and mucosa samples. Therefore, these blood group substances might have potential for the prevention and treatment of NoV infection. PMID:24558470

  10. Frequency distribution 0f ABO, RH blood groups and blood ...

    African Journals Online (AJOL)

    user

    2006-11-16

    Nov 16, 2006 ... blood genotypes among the cell biology and genetics students of ... problem in some pregnancies when the mother is Rh – negative and the foetus ... electrophoresis technique was used to determine haemoglobin genotype.

  11. S-allele diversity in Sorbus aucuparia and Crataegus monogyna (Rosaceae: Maloideae).

    Science.gov (United States)

    Raspé, O; Kohn, J R

    2002-06-01

    RT-PCR was used to obtain the first estimates from natural populations of allelic diversity at the RNase-based gametophytic self-incompatibility locus in the Rosaceae. A total of 20 alleles were retrieved from 20 Sorbus aucuparia individuals, whereas 17 alleles were found in 13 Crataegus monogyna samples. Estimates of population-level allele numbers fall within the range observed in the Solanaceae, the only other family with RNase-based incompatibility for which estimates are available. The nucleotide diversity of S-allele sequences was found to be much lower in the two Rosaceae species as compared with the Solanaceae. This was not due to a lower sequence divergence among most closely related alleles. Rather, it is the depth of the entire genealogy that differs markedly in the two families, with Rosaceae S-alleles exhibiting more recent apparent coalescence. We also investigated patterns of selection at the molecular level by comparing nucleotide diversity at synonymous and nonsynonymous sites. Stabilizing selection was inferred for the 5' region of the molecule, while evidence of diversifying selection was present elsewhere.

  12. Association mapping and favourable QTL alleles for fibre quality ...

    Indian Academy of Sciences (India)

    Cheng-Guang Dong

    A total of 201 markers were polymorphic and generated 394 allele loci, and 403 ... identified as containing favourable allele loci related to fibre quality traits. The identified .... environment. Field management followed respective local practices.

  13. [Alkaline phosphatase activity in blood group B or O secretors is fluctuated by the dinner intake of previous night].

    Science.gov (United States)

    Matsushita, Makoto; Harajiri, Sanae; Tabata, Shiori; Yukimasa, Nobuyasu; Muramoto, Yoshimi; Komoda, Tsugikazu

    2013-04-01

    We previously reported that two intestinal alkaline phosphatase (IAP) isoforms, high molecular mass IAP (HIAP) and normal molecular mass IAP (NIAP), appear in healthy serum with our Triton-PAGE method for determination of ALP isozymes. In addition, HIAP is chiefly present in blood group B or O secretors, and a large amount of NIAP is secreted into the circulation after high-fat meal in blood group B or O secretors. In the present paper, we investigated the relationship between alkaline phosphatase (ALP) activity in early morning with the patient in a fasted state and the dinner intake of previous night. Two types of dinner were prepared; a low-fat meal (520 kcal), and a high-fat meal (1,040 kcal). Subjects ate the 2 types of dinner on different days. The mean ALP activities at 14 h after high-fat meal ingestion in blood group B or O secretors (n=14) from JSCC and IFCC methods were 8.8% and 5.2% higher than those at 14 h after low-fat meal ingestion in blood group B or O secretors, respectively. The increases in ALP activity between after high-fat meal and low-fat meal were nearly identical to the increases in NIAP activity. These results suggest that a high-fat meal is more likely to affect ALP activity at the early morning with the patient in a fasted state in blood group B or O secretors.

  14. Adenoid and tonsil surgeries in children: How relevant is pre-operative blood grouping and cross-matching?

    Directory of Open Access Journals (Sweden)

    Lucky Onotai

    2013-01-01

    Full Text Available Background: As a part of pre-operative evaluation, several otolaryngologists group and cross-match blood routinely for children undergoing adenoid and tonsil surgeries. This practice has generated several debates either in support or against this practice. The aim of this study is to critically evaluate the incidence of post-tonsillectomy (with or without adenoidectomy bleeding and blood transfusions in otherwise healthy children with adenoid/tonsil pathologies conducted in the University of Port Harcourt Teaching Hospital (UPTH. Patients and Methods: A descriptive retrospective study of children who underwent adenoid and tonsil surgeries in the Department of Ear, Nose and Throat (ENT surgery of UPTH from January 2003 to December 2012. Children with family history of bleeding disorders and derangement of clotting profile as well as different co-morbidity like sickle cell disease were excluded from this study. The patients′ data were retrieved from the registers of ENT out-patient clinics, theatre registers and patients case notes. Demographic data, indications for surgery, preoperative investigations, complications and management outcomes were recorded and analyzed. Results: Out of 145 children that had adenoid and tonsil surgeries; only 100 met the criteria for this study. The study subjects included 65 males and 35 females (male: female ratio 1.9:1 belonging to 0-16 years age group (mean age: 3.46 ± 2.82 years. The age group of 3-5 years had the highest (n = 40, 40% number of surgeries. Adenotonsillectomy was the commonest (n = 85, 85% surgery performed on patients who had obstructive sleep apnea (OSA. The commonest (n = 6, 6% complication was haemorrhage, and only few (n = 3, 3% patients had blood transfusion. However, mortality was recorded in some (n = 3, 3% patients. Conclusion: This study confirms that the incidence of post adenoidectomy/tonsillectomy bleeding in otherwise healthy children is low and rarely requires blood transfusion

  15. Allele Frequency - JSNP | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available nd 39 SNPs are assayed in three (POP_*) and two (RIKEN_japanese_*) panels, respectively. Derived from Flat f... assay (JBIC-allele and RIKEN_japanese_*), TaqMan assay (RIKEN-allele) or direct sequencing / allelic discri...unteers under informed consent RIKEN_japanese_normal_weight - 711 unrelated japanese normal weight volunteer...s ( body mass index RIKEN_japanese_obese - 796 unrelated japanese obese patients

  16. ABO blood group and the risk of placental malaria in sub-Saharan Africa

    NARCIS (Netherlands)

    Adegnika, A.A.; Luty, A.J.F.; Grobusch, M.P.; Ramharter, M.; Yazdanbakhsh, M.; Kremsner, P.G.; Schwarz, N.G.

    2011-01-01

    Background: In malarious areas of the world, a higher proportion of the population has blood group O than in non-malarious areas. This is probably due to a survival advantage conferred either by an attenuating effect on the course of or reduction in the risk of infection by plasmodial parasites.

  17. ABO blood group and the risk of placental malaria in sub-Saharan Africa

    NARCIS (Netherlands)

    Adegnika, Ayola A.; Luty, Adrian J. F.; Grobusch, Martin P.; Ramharter, Michael; Yazdanbakhsh, Maria; Kremsner, Peter G.; Schwarz, Norbert G.

    2011-01-01

    In malarious areas of the world, a higher proportion of the population has blood group O than in non-malarious areas. This is probably due to a survival advantage conferred either by an attenuating effect on the course of or reduction in the risk of infection by plasmodial parasites. Here, the

  18. The allelic distribution of -308 Tumor Necrosis Factor-alpha gene polymorphism in South African women with cervical cancer and control women

    International Nuclear Information System (INIS)

    Govan, Vandana A; Constant, Debbie; Hoffman, Margaret; Williamson, Anna-Lise

    2006-01-01

    Cervical cancer is due to infection with specific high-risk types of human papillomavirus (HPV). Although the incidence of genital HPV infection in various population groups is high, most of these regress without intervention. Investigating genetic host factors and cellular immune responses, particularly cytokines, could help to understand the association between genital HPV infection and carcinogenesis. The tumor necrosis factor alpha (TNF-α) cytokine plays an important role in all stages of cervical cancer and has the ability to induce the regression of human tumors. Therefore the aim of the study was to investigate the allelic distribution of -308 TNF-α gene polymorphism in South African women with cervical cancer compared to control women. Included in our study were women with histologically proven cancer of the cervix (n = 244) and hospital-based controls (n = 228). All patients and controls were from mixed race and black population groups in South Africa. The detection of a bi-allelic -308 (A/G) polymorphism in the promoter region of TNF-α was investigated using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. The distributions of the allelic frequencies were stratified in both patients and controls into two South African ethnic population groups. In this study we observed no association between the distribution of -308 TNF-α polymorphism and the risk of developing cervical cancer even after combining the data from the two ethnic populations (X 2 = 2.26). In addition, using the chi-squared test we found no significant association between the known risk factors for cervical cancer and the allele distribution of -308 TNF-α. However, the frequency of the rare high-producing allele -308A of TNF-α was significantly lower in the South African population when compared to Caucasians and Chinese population groups. We demonstrated no association between -308 TNF-α polymorphism and the risk of cervical cancer among two

  19. Allelic inhibition of displacement activity: a simplified one tube allele-specific PCR for evaluation of ITPA polymorphisms.

    Science.gov (United States)

    Galmozzi, E; Facchetti, F; Degasperi, E; Aghemo, A; Lampertico, P

    2013-02-01

    Recently, genome-wide association studies (GWAS) in patients with chronic hepatitis C virus (HCV) infection have identified two functional single nucleotide polymorphisms (SNPs) in the inosine triphosphatase (ITPA) gene, that are associated strongly and independently with hemolytic anemia in patients exposed to pegylated-interferon (Peg-IFN) plus ribavirin (RBV) combined therapy. Here has been developed a simplified allele discrimination polymerase chain reaction (PCR) assay named allelic inhibition of displacement activity (AIDA) for evaluation of ITPA polymorphisms. AIDA system relies on three unlabeled primers only, two outer common primers and one inner primer with allele-specific 3' terminus mismatch. DNA samples from 192 patients with chronic HCV infection were used to validate the AIDA system and results were compared with the gold standard TaqMan(®) SNP genotyping assay. Concordant data were obtained for all samples, granting for high specificity of the method. In conclusion, AIDA is a practical one-tube method to reproducibly and to assess accurately rs7270101 and rs1127354 ITPA SNPs. Copyright © 2012 Elsevier B.V. All rights reserved.

  20. Frequency of alleles and haplotypes of the human leukocyte antigen system in Bauru, São Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    Luana de Cassia Salvadori

    2014-04-01

    Full Text Available Background: HLA allele identification is used in bone marrow transplant programs as HLA compatibility between the donor and recipient may prevent graft rejection. Objective: This study aimed to estimate the frequency of alleles and haplotypes of the HLA system in the region of Bauru and compare these with the frequencies found in other regions of the country. Methods: HLA-A*, HLA-B*, and HLA-DRB1* allele frequencies and haplotypes were analyzed in a sample of 3542 volunteer donors at the National Registry of Voluntary Bone Marrow Donors (REDOME in Bauru. HLA low resolution typing was performed using reverse line blot with the Dynal Reli(tm SSO-HLA Typing Kit and automated Dynal AutoReli(tm48 device (Invitrogen, USA. Results: Twenty, 36, and 13 HLA-A*, HLA-B*, and HLA-DRB1* allele groups, respectively, were identified. The most common alleles for each locus were HLA-A*02, HLA-B*35, and HLA-DRB1*07. The most frequent haplotype was A*01-B*08-DRB1*03. Allele and haplotype frequencies were compared to other regions in Brazil and the similarities and differences among populations are shown. Conclusion: The knowledge of the immunogenic profile of a population contributes to the comprehension of the historical and anthropological aspects of different regions. Moreover, this helps to find suitable donors quickly, thereby shortening waiting lists for transplants and thus increasing survival rates among recipients.

  1. Genetic admixture, social-behavioural factors and body composition are associated with blood pressure differently by racial-ethnic group among children.

    Science.gov (United States)

    Klimentidis, Y C; Dulin-Keita, A; Casazza, K; Willig, A L; Allison, D B; Fernandez, J R

    2012-02-01

    Cardiovascular disease has a progressively earlier age of onset, and disproportionately affects African Americans (AAs) in the United States. It has been difficult to establish the extent to which group differences are due to physiological, genetic, social or behavioural factors. In this study, we examined the association between blood pressure and these factors among a sample of 294 children, identified as AA, European American or Hispanic American. We use body composition, behavioural (diet and physical activity) and survey-based measures (socio-economic status and perceived racial discrimination), as well as genetic admixture based on 142 ancestry informative markers (AIMs) to examine associations with systolic and diastolic blood pressure. We find that associations differ by ethnic/racial group. Notably, among AAs, physical activity and perceived racial discrimination, but not African genetic admixture, are associated with blood pressure, while the association between blood pressure and body fat is nearly absent. We find an association between blood pressure and an AIM near a marker identified by a recent genome-wide association study. Our findings shed light on the differences in risk factors for elevated blood pressure among ethnic/racial groups, and the importance of including social and behavioural measures to grasp the full genetic/environmental aetiology of disparities in blood pressure.

  2. Early effect of ApoE-epsilon 4 allele on cognitive results in a group of highly performing subjects: the EVA study. Etude sur le Vieillissement Artériel.

    Science.gov (United States)

    Berr, C; Dufouil, C; Brousseau, T; Richard, F; Amouyel, P; Marceteau, E; Alpérovitch, A

    1996-10-25

    We examined the association between apolipoprotein E (ApoE) epsilon 4 allele and cognitive performances in a population sample of 1174 high functioning volunteers aged 59-71 years. The neuropsychological battery included the Mini Mental State Examination (MMSE) and nine tests assessing visual attention, verbal memory, visual processing, logical reasoning, psychomotor rapidity, visual memory, auditory attention and verbal fluency. The ratio of genotypes with zero, one or two epsilon 4 alleles was 70.6%, 21.4% and 1.9%, respectively. The epsilon 4 allele was significantly associated with lower scores for visual attention, psychomotor rapidity and MMSE. In the best performer subgroup (MMSE score above 25, n = 1028), all relationships persisted. Our findings demonstrate that the ApoE-epsilon 4 allele is early associated with low normal cognitive performances in areas which are not specifically affected at the subclinical onset of dementia.

  3. Enrichment of minor allele of SNPs and genetic prediction of type 2 diabetes risk in British population.

    Directory of Open Access Journals (Sweden)

    Xiaoyun Lei

    Full Text Available Type 2 diabetes (T2D is a complex disorder characterized by high blood sugar, insulin resistance, and relative lack of insulin. The collective effects of genome wide minor alleles of common SNPs, or the minor allele content (MAC in an individual, have been linked with quantitative variations of complex traits and diseases. Here we studied MAC in T2D using previously published SNP datasets and found higher MAC in cases relative to matched controls. A set of 357 SNPs was found to have the best predictive accuracy in a British population. A weighted risk score calculated by using this set produced an area under the curve (AUC score of 0.86, which is comparable to risk models built by phenotypic markers. These results identify a novel genetic risk element in T2D susceptibility and provide a potentially useful genetic method to identify individuals with high risk of T2D.

  4. Association between the DRD2 A1 allele and response to methadone and buprenorphine maintenance treatments.

    Science.gov (United States)

    Barratt, Daniel T; Coller, Janet K; Somogyi, Andrew A

    2006-06-05

    The TaqI A polymorphism (A(1)) of the dopamine D(2) receptor gene (DRD2), although not a specific predictor of opioid dependence, has been strongly associated with high levels of prior heroin use and poor treatment outcomes among methadone maintenance patients. The aims of this study were to confirm these findings via a retrospective analysis of A(1) allele frequency in methadone (n = 46) and buprenorphine (n = 25) patients, and non-opioid-dependent controls (n = 95). Subjects were genotyped at the DRD2 TaqI A locus using PCR amplification followed by TaqI restriction enzyme digestion and gel electrophoresis. For methadone and buprenorphine subjects, heroin use (prior to treatment), treatment outcomes, and withdrawal occurrence were determined from comprehensive case notes. No significant differences in A(1) allele frequency (%) were observed between: methadone (19.6%), buprenorphine (18.0%), and control (17.9%) groups (P > 0.7); successful and poor treatment outcome groups, methadone: 20.0% and 19.2%, respectively (P = 1.0); buprenorphine: 18.4% and 20.0%, respectively (P = 1.0). Also, there were no significant relationships between TaqI A genotype and prior heroin use (P = 0.47). However, among the successful methadone subjects, significantly fewer A(1) allele carriers experienced withdrawal than non-A(1) carriers (P = 0.04). In conclusion, the DRD2 genotype effects did not affect opioid maintenance treatment outcomes. This suggests the need for a further prospective investigation into the role of the DRD2 A(1) allele in heroin use and response to maintenance pharmacotherapies for opioid dependence.

  5. Evaluation of single-nucleotide polymorphisms as internal controls in prenatal diagnosis of fetal blood groups.

    Science.gov (United States)

    Doescher, Andrea; Petershofen, Eduard K; Wagner, Franz F; Schunter, Markus; Müller, Thomas H

    2013-02-01

    Determination of fetal blood groups in maternal plasma samples critically depends on adequate amplification of fetal DNA. We evaluated the routine inclusion of 52 single-nucleotide polymorphisms (SNPs) as internal reference in our polymerase chain reaction (PCR) settings to obtain a positive internal control for fetal DNA. DNA from 223 plasma samples of pregnant women was screened for RHD Exons 3, 4, 5, and 7 in a multiplex PCR including 52 SNPs divided into four primer pools. Amplicons were analyzed by single-base extension and the GeneScan method in a genetic analyzer. Results of D screening were compared to standard RHD genotyping of amniotic fluid or real-time PCR of fetal DNA from maternal plasma. The vast majority of all samples (97.8%) demonstrated differences in maternal and fetal SNP patterns when tested with four primer pools. These differences were not observed in less than 2.2% of the samples most probably due to an extraction failure for adequate amounts of fetal DNA. Comparison of the fetal genotypes with independent results did not reveal a single false-negative case among samples (n = 42) with positive internal control and negative fetal RHD typing. Coamplification of 52 SNPs with RHD-specific sequences for fetal blood group determination introduces a valid positive control for the amplification of fetal DNA to avoid false-negative results. This new approach does not require a paternal blood sample. It may also be applicable to other assays for fetal genotyping in maternal blood samples. © 2012 American Association of Blood Banks.

  6. Comparison of bovine lymphocyte antigen DRB3.2 allele ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-08-04

    Aug 4, 2008 ... The bovine lymphocyte antigen (BoLA-DRB3) gene encodes cell ... alleles were more resistant to clinical mastitis. ... DRB3.2 allele pattern in two Iranian Holstein cow .... observed and the number of immune parameters with.

  7. Tri-allelic SNP markers enable analysis of mixed and degraded DNA samples.

    Science.gov (United States)

    Westen, Antoinette A; Matai, Anuska S; Laros, Jeroen F J; Meiland, Hugo C; Jasper, Mandy; de Leeuw, Wiljo J F; de Knijff, Peter; Sijen, Titia

    2009-09-01

    For the analysis of degraded DNA in disaster victim identification (DVI) and criminal investigations, single nucleotide polymorphisms (SNPs) have been recognized as promising markers mainly because they can be analyzed in short sized amplicons. Most SNPs are bi-allelic and are thereby ineffective to detect mixtures, which may lead to incorrect genotyping. We developed an algorithm to find non-binary (i.e. tri-allelic or tetra-allelic) SNPs in the NCBI dbSNP database. We selected 31 potential tri-allelic SNPs with a minor allele frequency of at least 10%. The tri-allelic nature was confirmed for 15 SNPs residing on 14 different chromosomes. Multiplex SNaPshot assays were developed, and the allele frequencies of 16 SNPs were determined among 153 Dutch and 111 Netherlands Antilles reference samples. Using these multiplex SNP assays, the presence of a mixture of two DNA samples in a ratio up to 1:8 could be recognized reliably. Furthermore, we compared the genotyping efficiency of the tri-allelic SNP markers and short tandem repeat (STR) markers by analyzing artificially degraded DNA and DNA from 30 approximately 500-year-old bone and molar samples. In both types of degraded DNA samples, the larger sized STR amplicons failed to amplify whereas the tri-allelic SNP markers still provided valuable information. In conclusion, tri-allelic SNP markers are suited for the analysis of degraded DNA and enable the detection of a second DNA source in a sample.

  8. A high-throughput method for genotyping S-RNase alleles in apple

    DEFF Research Database (Denmark)

    Larsen, Bjarne; Ørgaard, Marian; Toldam-Andersen, Torben Bo

    2016-01-01

    We present a new efficient screening tool for detection of S-alleles in apple. The protocol using general and multiplexed primers for PCR reaction and fragment detection on an automatized capillary DNA sequencer exposed a higher number of alleles than any previous studies. Analysis of alleles...

  9. High-Throughput, Multiplex Genotyping Directly from Blood or Dried Blood Spot without DNA Extraction for the Screening of Multiple G6PD Gene Variants at Risk for Drug-Induced Hemolysis.

    Science.gov (United States)

    Tian, Xiaoyi; Zhou, Jun; Zhao, Ye; Cheng, Zhibin; Song, Wenqi; Sun, Yu; Sun, Xiaodong; Zheng, Zhi

    2017-09-01

    Clinical or epidemiologic screening of single-nucleotide polymorphism markers requires large-scale multiplexed genotyping. Available genotyping tools require DNA extraction and multiplex PCR, which may limit throughput and suffer amplification bias. Herein, a novel genotyping approach has been developed, multiplex extension and ligation-based probe amplification (MELPA), which eliminates DNA extraction and achieves uniform PCR amplification. MELPA lyses blood or dried blood spot and directly captures specific target DNA to 96-well plates using tailed probes. Subsequent enzymatic extension and ligation form target single-nucleotide polymorphism-spanning single-stranded templates, which are PCR-amplified using universal primers. Multiplexed genotyping by single-base primer extension is analyzed by mass spectrometry, with a call rate >97%. MELPA was compared with a commercial assay (iPLEX) for detecting 24 G6PD variants known to be at risk for primaquine-induced hemolysis. MELPA provided results that were more reliable than iPLEX, with higher throughput and lower cost. Genotyping archival blood from 106 malaria patients taking primaquine found 10 G6PD-deficient variants, including 1 patient with a hemizygous Mahidol mutation who had hemolysis. Preemptive G6PD genotyping of 438 dried blood spots from a malaria-endemic area identified three variants. MELPA also enabled pooled genotyping without diluting rare alleles, in which undesired common-allele background increased by sample pooling can be repressed by adding specific common allele blockers. Thus, MELPA represents a high-throughput, cost-effective approach to targeted genotyping at the population level. Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  10. A robust and powerful two-step testing procedure for local ancestry adjusted allelic association analysis in admixed populations.

    Science.gov (United States)

    Duan, Qing; Xu, Zheng; Raffield, Laura M; Chang, Suhua; Wu, Di; Lange, Ethan M; Reiner, Alex P; Li, Yun

    2018-04-01

    Genetic association studies in admixed populations allow us to gain deeper understanding of the genetic architecture of human diseases and traits. However, population stratification, complicated linkage disequilibrium (LD) patterns, and the complex interplay of allelic and ancestry effects on phenotypic traits pose challenges in such analyses. These issues may lead to detecting spurious associations and/or result in reduced statistical power. Fortunately, if handled appropriately, these same challenges provide unique opportunities for gene mapping. To address these challenges and to take these opportunities, we propose a robust and powerful two-step testing procedure Local Ancestry Adjusted Allelic (LAAA) association. In the first step, LAAA robustly captures associations due to allelic effect, ancestry effect, and interaction effect, allowing detection of effect heterogeneity across ancestral populations. In the second step, LAAA identifies the source of association, namely allelic, ancestry, or the combination. By jointly modeling allele, local ancestry, and ancestry-specific allelic effects, LAAA is highly powerful in capturing the presence of interaction between ancestry and allele effect. We evaluated the validity and statistical power of LAAA through simulations over a broad spectrum of scenarios. We further illustrated its usefulness by application to the Candidate Gene Association Resource (CARe) African American participants for association with hemoglobin levels. We were able to replicate independent groups' previously identified loci that would have been missed in CARe without joint testing. Moreover, the loci, for which LAAA detected potential effect heterogeneity, were replicated among African Americans from the Women's Health Initiative study. LAAA is freely available at https://yunliweb.its.unc.edu/LAAA. © 2017 WILEY PERIODICALS, INC.

  11. DRD4 dopamine receptor allelic diversity in various primate species

    Energy Technology Data Exchange (ETDEWEB)

    Adamson, M.; Higley, D. [NIAAA, Rockville, MD (United States); O`Brien, S. [NCI, Frederick, MD (United States)] [and others

    1994-09-01

    The DRD4 dopamine receptor is uniquely characterized by a 48 bp repeating segment within the coding region, located in exon III. Different DRD4 alleles are produced by the presence of additional 48 bp repeats, each of which adds 16 amino acids to the length of the 3rd intracytoplasmic loop of the receptor. The DRD4 receptor is therefore an intriguing candidate gene for behaviors which are influenced by dopamine function. In several human populations, DRD4 alleles with 2-8 and 10 repeats have previously been identified, and the 4 and 7 repeat alleles are the most abundant. We have determined DRD4 genotypes in the following nonhuman primate species: chimpanzee N=2, pygmy chimpanzee N=2, gorilla N=4, siamang N=2, Gelada baboon N=1, gibbon N=1, orangutan (Bornean and Sumatran) N=62, spider monkey N=4, owl monkey N=1, Colobus monkey N=1, Patas monkey N=1, ruffed lemur N=1, rhesus macaque N=8, and vervet monkey N=28. The degree of DRD4 polymorphism and which DRD4 alleles were present both showed considerable variation across primate species. In contrast to the human, rhesus macaque monkeys were monomorphic. The 4 and 7 repeat allels, highly abundant in the human, may not be present in certain other primates. For example, the four spider monkeys we studied showed the 7, 8 and 9 repeat length alleles and the only gibbon we analyzed was homozygous for the 9 repeat allele (thus far not observed in the human). Genotyping of other primate species and sequencing of the individual DRD4 repeat alleles in different species may help us determine the ancestral DRD4 repeat length and identify connections between DRD4 genotype and phenotype.

  12. Identification, genetic localization, and allelic diversity of selectively amplified microsatellite polymorphic loci in lettuce and wild relatives (Lactuca spp.).

    Science.gov (United States)

    Witsenboer, H; Michelmore, R W; Vogel, J

    1997-12-01

    Selectively amplified microsatellite polymorphic locus (SAMPL) analysis is a method of amplifying microsatellite loci using generic PCR primers. SAMPL analysis uses one AFLP primer in combination with a primer complementary to microsatellite sequences. SAMPL primers based on compound microsatellite sequences provided the clearest amplification patterns. We explored the potential of SAMPL analysis in lettuce to detect PCR-based codominant microsatellite markers. Fifty-eight SAMPLs were identified and placed on the genetic map. Seventeen were codominant. SAMPLs were dispersed with RFLP markers on 11 of the 12 main linkage groups in lettuce, indicating that they have a similar genomic distribution. Some but not all fragments amplified by SAMPL analysis were confirmed to contain microsatellite sequences by Southern hybridization. Forty-five cultivars of lettuce and five wild species of Lactuca were analyzed to determine the allelic diversity for codominant SAMPLs. From 3 to 11 putative alleles were found for each SAMPL; 2-6 alleles were found within Lactuca sativa and 1-3 alleles were found among the crisphead genotypes, the most genetically homogeneous plant type of L. sativa. This allelic diversity is greater than that found for RFLP markers. Numerous new alleles were observed in the wild species; however, there were frequent null alleles. Therefore, SAMPL analysis is more applicable to intraspecific than to interspecific comparisons. A phenetic analysis based on SAMPLs resulted in a dendrogram similar to those based on RFLP and AFLP markers.

  13. Effects of blood glucose, blood lipids and blood pressure control on recovery of patients with gastric cancer complicated with metabolic syndrome after radical gastrectomy.

    Science.gov (United States)

    Sun, Li; Zhou, Pingping; Hua, Qingli; Jin, Changming; Guo, Chunling; Song, Bing

    2018-06-01

    This study aimed to investigate the effects of blood glucose, blood lipids and blood pressure control on recovery of patients with gastric cancer complicated with metabolic syndrome (MS) after radical gastrectomy. A total of 150 patients with gastric cancer, who were treated in Daqing Longnan Hospital from November, 2015 to May, 2017, were enrolled in this study. The patients were divided into the MS group (80 cases) and non-MS group (70 cases). Patients in the MS group were given corresponding drugs to control blood pressure, blood lipids and blood glucose, while patients in the non-MS group were not treated with those drugs. Patients in the MS group were divided into the normal and abnormal groups according to the levels of blood glucose, blood lipids and blood pressure. Moreover, occurrences of complications were compared between the normal and abnormal groups. Before surgery, blood glucose, blood lipids and blood pressure in the MS group were significantly higher than those in the non-MS group (pblood glucose, blood lipids and blood pressure of the MS group decreased significantly compared to those before operation (pblood glucose, 2 h postprandial blood glucose, glycosylated hemoglobin, total triglycerides (TGs), LDL, mean blood pressure and BMI (pblood glucose, blood lipids and blood pressure in patients with gastric cancer complicated with MS after radical gastrectomy can reduce the incidence of postoperative complications and promote postoperative recovery.

  14. Cerebral blood flow and metabolic abnormalities in Alzheimer's disease

    International Nuclear Information System (INIS)

    Matsuda, Hiroshi

    2001-01-01

    In this review I summarize observations of PET and SPECT studies about cerebral blood flow and metabolic abnormalities in Alzheimer's disease (AD). In very early AD flow or metabolism reduces first in the posterior cingulate gyrus and precuneus. This reduction may arise from functional deafferentation caused by primary neural degeneration in the remote area of the entorhinal cortex that is the first to be pathologically affected in AD. Then medial temporal structures and parietotemporal association cortex show flow or metabolic reduction as disease processes. The reason why flow or metabolism in medial temporal structures shows delay in starting to reduce in spite of the earliest pathological affection remains to be elucidated. It is likely that anterior cingulate gyrus is functionally involved, since attention is the first non-memory domain to be affected, before deficits in language and visuospatial functions. However few reports have described involvement in the anterior cingulate gyrus. Relationship between cerebral blood flow or metabolism and apolipoprotein E (APOE) genotype has been investigated. Especially, the APOEε4 allele has been reported to increase risk and to lower onset age as a function of the inherited dose of the ε4 allele. Reduction of flow or metabolism in the posterior cingulate gyrus and precuneus has been reported even in presymptomatic nondemented subjects who were cognitively normal and had at least a single ε4 allele. On the contrary the relation of ε4 allele to the progression rate of AD has been controversial from neuroimaging approaches. PET and SPECT imaging has become to be quite useful for assessing therapeutical effects of newly introduced treatment for AD. Recent investigations observed significant regional flow increase after donepezil hydrochloride treatment. Most of these observations have been made by applying computer assisted analysis of three-dimensional stereotactic surface projection or statistical parametric mapping

  15. Seasonal Changes in Brain Serotonin Transporter Binding in Short Serotonin Transporter Linked Polymorphic Region-Allele Carriers but Not in Long-Allele Homozygotes

    DEFF Research Database (Denmark)

    Kalbitzer, Jan; Erritzoe, David; Holst, Klaus K

    2010-01-01

    of the short 5-HTTLPR allele but not in homozygote carriers of the long allele. Conclusions: Our findings are in line with S-carriers having an increased response in neural circuits involved in emotional processing to stressful environmental stimuli but here demonstrated as a endophenotype with dynamic changes...

  16. Cadmium, lead and mercury concentrations and their influence on morphological parameters in blood donors from different age groups from southern Poland.

    Science.gov (United States)

    Janicka, Monika; Binkowski, Łukasz J; Błaszczyk, Martyna; Paluch, Joanna; Wojtaś, Włodzimierz; Massanyi, Peter; Stawarz, Robert

    2015-01-01

    Due to industrial development, environmental contamination with metals increases which leads to higher human exposure via air, water and food. In order to evaluate the level of the present exposition, the concentrations of metals can be measured in such biological materials as human blood. In this study, we assessed the concentrations of cadmium (Cd), mercury (Hg) and lead (Pb) in blood samples from male blood donors from southern Poland (Europe) born in 1994 (n=30) and between 1947 and 1955 (n=30). Higher levels of Pb were seen in the group of older men (4.48 vs 2.48μg/L), whereas the Hg levels were lower (1.78 vs 4.28μg/L). Cd concentrations did not differ between age groups (0.56μg/L). The levels of Cd and Pb in older donors were significantly correlated (Spearman R 0.5135). We also observed a positive correlation between the number of red blood cells (RBC) and Hg concentrations in the older group (Spearman R 0.4271). Additionally, we noted numerous correlations among morphological parameters. Based on our results, we can state that metals influence the blood morphology and their concentrations in blood vary among age groups. Copyright © 2014 Elsevier GmbH. All rights reserved.

  17. Concordance of the ForenSeq™ system and characterisation of sequence-specific autosomal STR alleles across two major population groups.

    Science.gov (United States)

    Devesse, Laurence; Ballard, David; Davenport, Lucinda; Riethorst, Immy; Mason-Buck, Gabriella; Syndercombe Court, Denise

    2018-05-01

    By using sequencing technology to genotype loci of forensic interest it is possible to simultaneously target autosomal, X and Y STRs as well as identity, ancestry and phenotypic informative SNPs, resulting in a breadth of data obtained from a single run that is considerable when compared to that generated with standard technologies. It is important however that this information aligns with the genotype data currently obtained using commercially available kits for CE-based investigations such that results are compatible with existing databases and hence can be of use to the forensic community. In this work, 400 samples were typed using commercially available STR kits and CE, as well as using the Ilumina ForenSeq™ DNA Signature Prep Kit and MiSeq ® FGx to assess concordance of autosomal STRs and population variability. Results show a concordance rate between the two technologies exceeding 99.98% while numerous novel sequence based alleles are described. In order to make use of the sequence variation observed, sequence specific allele frequencies were generated for White British and British Chinese populations. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control study.

    Science.gov (United States)

    Hiltunen, Leena M; Laivuori, Hannele; Rautanen, Anna; Kaaja, Risto; Kere, Juha; Krusius, Tom; Paunio, Mikko; Rasi, Vesa

    2009-06-01

    Pre-eclampsia is an important cause of maternal morbidity and mortality. Its etiology is still unknown. Clinical symptoms correlate with activation of coagulation and inherited thrombophilia has been associated with pre-eclampsia. ABO blood group has been associated with thrombotic disorders and pre-eclampsia. We assessed ABO blood group, seven thrombophilia associated polymorphisms, and anti-beta2-glycoprotein I antibodies as risk factors for pre-eclampsia. We performed a population-based nested case-control study of 100,000 consecutive pregnancies in Finland. Cases and controls were identified by combining national registers and medical records were reviewed. We studied 248 cases fulfilling strict criteria for pre-eclampsia and 679 controls. Severe pre-eclampsia, early pre-eclampsia, and pre-eclampsia with intra-uterine growth restriction (IUGR) were analyzed separately. Blood group AB increased the risk for pre-eclampsia as a whole (OR 2.1, 95% CI 1.3-3.5), and in the three subgroups (OR 2.3, 3.8, 3.4; 95% CI 1.3-3.9, 2.0-7.1, 1.6-7.1). FV Leiden increased the risk as a whole (OR 1.7, 95% CI 0.8-3.9), and in the three subgroups, although not statistically significantly. Anti-beta2-glycoprotein I antibodies were not associated with pre-eclampsia. High body mass index, diabetes, first pregnancy, and twin pregnancy increased the risk from 1.5-fold to 8.2-fold. Our results confirm and extend the prior observation of blood group AB being a risk factor for pre-eclampsia. ABO blood group is known from all pregnant women. The value of blood group as risk factor for pre-eclampsia should be further assessed in prospective studies. In this study, FV Leiden was not statistically significant risk factor.

  19. Implication of HLA-DMA Alleles in Corsican IDDM

    Directory of Open Access Journals (Sweden)

    P. Cucchi-Mouillot

    1998-01-01

    Full Text Available The HLA-DM molecule catalyses the CLIP/antigen peptide exchange in the classical class II peptide-binding groove. As such, DM is an antigen presentation regulator and may be linked to autoimmune diseases. Using PCR derived methods, a relationship was revealed between DM gene polymorphism and IDDM, in a Corsican population. The DMA*0101 allele was observed to confer a significant predisposition to this autoimmune disease while the DMA*0102 allele protected significantly. Experiments examining polymorphism of the HLA-DRB1 gene established that these relationships are not a consequence of linkage disequilibrium with HLA-DRB1 alleles implicated in this pathology. The study of the DMA gene could therefore be an additional tool for early IDDM diagnosis in the Corsican population.

  20. Allele frequency changes due to hitch-hiking in genomic selection programs

    DEFF Research Database (Denmark)

    Liu, Huiming; Sørensen, Anders Christian; Meuwissen, Theo H E

    2014-01-01

    of inbreeding due to changes in allele frequencies and hitch-hiking. This study aimed at understanding the impact of using long-term genomic selection on changes in allele frequencies, genetic variation and the level of inbreeding. Methods Selection was performed in simulated scenarios with a population of 400......-BLUP, Genomic BLUP and Bayesian Lasso. Changes in allele frequencies at QTL, markers and linked neutral loci were investigated for the different selection criteria and different scenarios, along with the loss of favourable alleles and the rate of inbreeding measured by pedigree and runs of homozygosity. Results...

  1. HLA class II variation in the Gila River Indian Community of Arizona: alleles, haplotypes, and a high frequency epitope at the HLA-DR locus.

    Science.gov (United States)

    Williams, R C; McAuley, J E

    1992-01-01

    A genetic distribution for the HLA class II loci is described for 349 "full-blooded" Pima and Tohono O'odham Indians (Pimans) in the Gila River Indian Community. A high frequency epitope in the *DRw52 family was defined by reactions with 31 alloantisera, which we have designated *DR3X6. It segregates as a codominant allele at HLA-DR with alleles *DR2, *DR4, and *DRw8, and has the highest frequency yet reported for an HLA-DR specificity, 0.735. It forms a common haplotype with *DRw52 and *DQw3 that is a valuable marker for genetic admixture and anthropological studies. Phenotype and allele frequencies, and haplotype frequencies for two and three loci, are presented. Variation at these loci is highly restricted, the mean heterozygosity for HLA-DR and HLA-DQ being 0.361. The Pimans represent a contemporary model for the Paleo-Indians who first entered North America 20,000 to 40,000 years ago.

  2. Expression and loss of alleles in cultured mouse embryonic fibroblasts and stem cells carrying allelic fluorescent protein genes

    Directory of Open Access Journals (Sweden)

    Stringer Saundra L

    2006-10-01

    Full Text Available Abstract Background Loss of heterozygosity (LOH contributes to many cancers, but the rate at which these events occur in normal cells of the body is not clear. LOH would be detectable in diverse cell types in the body if this event were to confer an obvious cellular phenotype. Mice that carry two different fluorescent protein genes as alleles of a locus would seem to be a useful tool for addressing this issue because LOH would change a cell's phenotype from dichromatic to monochromatic. In addition, LOH caused by mitotic crossing over might be discernable in tissues because this event produces a pair of neighboring monochromatic cells that are different colors. Results As a step in assessing the utility of this approach, we derived primary embryonic fibroblast populations and embryonic stem cell lines from mice that carried two different fluorescent protein genes as alleles at the chromosome 6 locus, ROSA26. Fluorescence activated cell sorting (FACS showed that the vast majority of cells in each line expressed the two marker proteins at similar levels, and that populations exhibited expression noise similar to that seen in bacteria and yeast. Cells with a monochromatic phenotype were present at frequencies on the order of 10-4 and appeared to be produced at a rate of approximately 10-5 variant cells per mitosis. 45 of 45 stably monochromatic ES cell clones exhibited loss of the expected allele at the ROSA26 locus. More than half of these clones retained heterozygosity at a locus between ROSA26 and the centromere. Other clones exhibited LOH near the centromere, but were disomic for chromosome 6. Conclusion Allelic fluorescent markers allowed LOH at the ROSA26 locus to be detected by FACS. LOH at this locus was usually not accompanied by LOH near the centromere, suggesting that mitotic recombination was the major cause of ROSA26 LOH. Dichromatic mouse embryonic cells provide a novel system for studying genetic/karyotypic stability and factors

  3. Distribution of ABO/Rh blood groups and their association with hepatitis B virus infection in 3.8 million Chinese adults: A population-based cross-sectional study.

    Science.gov (United States)

    Liu, J; Zhang, S; Liu, M; Wang, Q; Shen, H; Zhang, Y

    2018-04-01

    ABO and Rh blood groups play a vital role in blood transfusion safety and clinical practice and are thought to be linked with disease susceptibility. The results from previous studies that focused on the association between blood groups and HBV infection remain controversial. China has the world's largest burden of HBV infection. We assessed the distribution of ABO/Rh blood groups in Chinese adults and examined the association between these groups and HBV infection. We did a nationwide cross-sectional study using data from a physical check-up programme from 31 provinces examined between 2010 and 2012. ELISA was used to test for HBsAg in serologic samples. Multivariable logistic regression was used to estimate aOR of the association between ABO and Rh blood groups and HBV infection. Among 3 827 125 participants, the proportion of participants with blood group A was highest (30.54%), followed by O (30.37%), B (29.42%) and AB (9.66%). A total of 38 907 (1.02%) were Rh-D negative. The prevalence of HBsAg in blood groups O, A, B and AB were 6.34%, 5.55%, 5.18% and 5.06%, respectively. HBsAg prevalence was 5.65% in Rh-D-positive and 3.96% in Rh-D-negative participants. After controlling for other potential risk factors, multivariate models showed that participants with blood group O (adjusted OR = 1.22, 95% CI: 1.20-1.25) were at higher risk of HBV infection compared with group AB. Rh-D-positive participants (adjusted OR = 1.44, 95% CI: 1.37-1.52) were at higher risk of HBV infection than Rh-D-negative participants. The associations between ABO/Rh blood groups and HBV infection were similar in subgroup analysis. The proportions of O, A, B and AB blood groups were approximately 3:3:3:1, and nearly 1 in 100 people was Rh-D negative among Chinese adults. Blood group O and Rh-D positivity were both associated with increased HBV infection. The risk of HBV infection and blood safety should be taken into consideration in clinical practice, especially when transfusing

  4. Variant mannose-binding lectin alleles are not associated with susceptibility to or outcome of invasive pneumococcal infection in randomly included patients

    DEFF Research Database (Denmark)

    Kronborg, Gitte; Weis, Nina; Madsen, Hans O

    2002-01-01

    for pneumococcal infections. To assess the influence of MBL genotypes on the course and outcome of invasive pneumococcal disease, clinical data for 141 adult patients were collected prospectively and their genotypes were determined. All patients included had positive blood cultures for Streptococcus pneumoniae....... The distribution of variant MBL alleles related to low MBL serum concentrations was similar among the patients and healthy individuals, and MBL genotype was not associated with infection outcome. Thus, in a random adult population with invasive pneumococcal infection, MBL does not seem to play a role......Invasive pneumococcal disease is a serious infection that primarily affects very young children and elderly or immunocompromised individuals but also affects previously healthy people. Variant mannose-binding lectin (MBL) alleles are associated with recurrent infections and may be a risk factor...

  5. GST M1-T1 null allele frequency patterns in geographically assorted human populations: a phylogenetic approach.

    Directory of Open Access Journals (Sweden)

    Senthilkumar Pitchalu Kasthurinaidu

    Full Text Available Genetic diversity in drug metabolism and disposition is mainly considered as the outcome of the inter-individual genetic variation in polymorphism of drug-xenobiotic metabolizing enzyme (XME. Among the XMEs, glutathione-S-transferases (GST gene loci are an important candidate for the investigation of diversity in allele frequency, as the deletion mutations in GST M1 and T1 genotypes are associated with various cancers and genetic disorders of all major Population Affiliations (PAs. Therefore, the present population based phylogenetic study was focused to uncover the frequency distribution pattern in GST M1 and T1 null genotypes among 45 Geographically Assorted Human Populations (GAHPs. The frequency distribution pattern for GST M1 and T1 null alleles have been detected in this study using the data derived from literatures representing 44 populations affiliated to Africa, Asia, Europe, South America and the genome of PA from Gujarat, a region in western India. Allele frequency counting for Gujarat PA and scattered plot analysis for geographical distribution among the PAs were performed in SPSS-21. The GST M1 and GST T1 null allele frequencies patterns of the PAs were computed in Seqboot, Gendist program of Phylip software package (3.69 versions and Unweighted Pair Group method with Arithmetic Mean in Mega-6 software. Allele frequencies from South African Xhosa tribe, East African Zimbabwe, East African Ethiopia, North African Egypt, Caucasian, South Asian Afghanistan and South Indian Andhra Pradesh have been identified as the probable seven patterns among the 45 GAHPs investigated in this study for GST M1-T1 null genotypes. The patternized null allele frequencies demonstrated in this study for the first time addresses the missing link in GST M1-T1 null allele frequencies among GAHPs.

  6. Detecting imbalanced expression of SNP alleles by minisequencing on microarrays

    Directory of Open Access Journals (Sweden)

    Dahlgren Andreas

    2004-10-01

    Full Text Available Abstract Background Each of the human genes or transcriptional units is likely to contain single nucleotide polymorphisms that may give rise to sequence variation between individuals and tissues on the level of RNA. Based on recent studies, differential expression of the two alleles of heterozygous coding single nucleotide polymorphisms (SNPs may be frequent for human genes. Methods with high accuracy to be used in a high throughput setting are needed for systematic surveys of expressed sequence variation. In this study we evaluated two formats of multiplexed, microarray based minisequencing for quantitative detection of imbalanced expression of SNP alleles. We used a panel of ten SNPs located in five genes known to be expressed in two endothelial cell lines as our model system. Results The accuracy and sensitivity of quantitative detection of allelic imbalance was assessed for each SNP by constructing regression lines using a dilution series of mixed samples from individuals of different genotype. Accurate quantification of SNP alleles by both assay formats was evidenced for by R2 values > 0.95 for the majority of the regression lines. According to a two sample t-test, we were able to distinguish 1–9% of a minority SNP allele from a homozygous genotype, with larger variation between SNPs than between assay formats. Six of the SNPs, heterozygous in either of the two cell lines, were genotyped in RNA extracted from the endothelial cells. The coefficient of variation between the fluorescent signals from five parallel reactions was similar for cDNA and genomic DNA. The fluorescence signal intensity ratios measured in the cDNA samples were compared to those in genomic DNA to determine the relative expression levels of the two alleles of each SNP. Four of the six SNPs tested displayed a higher than 1.4-fold difference in allelic ratios between cDNA and genomic DNA. The results were verified by allele-specific oligonucleotide hybridisation and

  7. Evolutionary dynamics of sporophytic self-incompatibility alleles in plants

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1997-01-01

    codominantly in both pollen and style (SSIcod), in the second, alleles form a dominance hierarchy in pollen and style (SSIdom). In the third model, alleles interact codominantly in the style and form a dominance hierarchy in the pollen (SSIdomcod). The SSIcod model behaves similarly to the model...

  8. Lea blood group antigen on human platelets

    International Nuclear Information System (INIS)

    Dunstan, R.A.; Simpson, M.B.; Rosse, W.F.

    1985-01-01

    One- and two-stage radioligand assays were used to determine if human platelets possess the Lea antigen. Goat IgG anti-Lea antibody was purified by multiple adsorptions with Le(a-b-) human red blood cells, followed by affinity chromatography with synthetic Lea substance and labeling with 125 I. Human IgG anti-Lea antibody was used either in a two stage radioassay with 125 I-labeled mouse monoclonal IgG anti-human IgG as the second antibody or, alternatively, purified by Staph protein A chromatography, labeled with 125 I, and used in a one-stage radioassay. Platelets from donors of appropriate red blood cell phenotypes were incubated with the antisera, centrifuged through phthalate esters, and assayed in a gamma scintillation counter. Dose response and saturation curve analysis demonstrate the presence of Lewis a antigen on platelets from Lea+ donors. Furthermore, platelets from an Le(a-b-) donor incubated in Le (a+b-) plasma adsorb Lea antigen in a similar manner to red blood cells. The clinical significance of these antigens in platelet transfusion remains undefined

  9. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

    Directory of Open Access Journals (Sweden)

    Melissa D Lage

    Full Text Available Primary Hyperoxaluria Type 1 (PH1 is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT, which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with PH1. While some of the mutations have been found to affect enzyme activity, stability, and/or localization, approximately half of these mutations are completely uncharacterized. In this study, we sought to systematically characterize AGT missense mutations associated with PH1. To facilitate analysis, we used two high-throughput yeast-based assays: one that assesses AGT specific activity, and one that assesses protein stability. Approximately 30% of PH1-associated missense mutations are found in conjunction with a minor allele polymorphic variant, which can interact to elicit complex effects on protein stability and trafficking. To better understand this allele interaction, we functionally characterized each of 34 mutants on both the major (wild-type and minor allele backgrounds, identifying mutations that synergize with the minor allele. We classify these mutants into four distinct categories depending on activity/stability results in the different alleles. Twelve mutants were found to display reduced activity in combination with the minor allele, compared with the major allele background. When mapped on the AGT dimer structure, these mutants reveal localized regions of the protein that appear particularly sensitive to interactions with the minor allele variant. While the majority of the deleterious effects on activity in the minor allele can be attributed to synergistic interaction affecting protein stability, we identify one mutation, E274D, that appears to specifically affect activity when in combination with the minor allele.

  10. Blood group genotyping Genotipagem de grupos sangüíneos

    Directory of Open Access Journals (Sweden)

    Lilian Castilho

    2004-01-01

    Full Text Available Accurate phenotyping of red blood cells (RBCs can be difficult in transfusion-dependent patients such as those with thalassemia and sickle cells anemia because of the presence of previously transfused RBCs in the patient's circulation. Recently, the molecular basis associated with the expression of many blood group antigens was established. This allowed the development of a plethora of polymerase chain reaction-based tests for identification of the blood group antigens by testing DNA. The determination of blood group polymorphism at the genomic level facilitates the resolution of clinical problems that cannot be addressed by hemagglutination. They are useful to (a determine antigen types for which currently available antibodies are weakly reactive; (b type patients who have been recently transfused; (c identify fetuses at risk for hemolytic disease of the newborn; and (d to increase the reliability of repositories of antigen negative RBCs for transfusion. It is important to note that PCR based assays are prone to different types of errors that those observed with hemagglutination assays. For instance, contamination with amplified products may lead to false positive test results. In addition, the identification of a particular genotype does not necessarily mean that the antigen will be expressed on the RBC membrane.Os antígenos eritrocitários são herdados geneticamente e definidos por seqüências de aminoácidos específicos constituindo uma proteína ou por carboidratos ligados a estas proteínas ou à lipídios. A diversidade dos antígenos de grupos sangüíneos, como para qualquer outro traço biológico, encontra-se ao nível do gene. Existem atualmente mais de 250 antígenos eritrocitários que se encontram distribuídos em 29 sistemas de grupos sangüíneos, de acordo com a Nomenclatura da Sociedade Internacional de Transfusão Sangüínea (ISBT. Os genes que codificam 28 dos 29 sistemas de grupos sangüíneos já foram clonados e seq

  11. THE FUTURE OF NEXT-GENERATION SEQUENCING FOR BLOOD GROUP GENOTYPING AND ITS IMPLICATIONS IN TRANSFUSION MEDICINE

    OpenAIRE

    Halawani, Amr Jamal J

    2016-01-01

    Alloimmunisation becomes a problem when serological discrepancies occur in matching antigens between donors and patients for blood transfusion. The rate of alloimmunisation has been increased especially in multiply transfused patients. Blood group genotyping (BGG) is a DNA-based assay that aids in reducing this situation. Currently, many platforms of BGG have become available, in which every technique has its own advantages and disadvantages. All these platforms lack the ability to identify n...

  12. Higher frequency of secretor phenotype in O blood group ? its benefits in prevention and/or treatment of some diseases

    OpenAIRE

    Jaff, Mohamad Salih

    2010-01-01

    Mohamad Salih JaffPathology Department, Hawler Medical University (Formerly Salahaddin University), Erbil, Kurdistan Region, IraqAbstract: ABO blood groups and secretor status are important in clinical and forensic medicine and in relation to some diseases. There are geographic and racial differences in their frequencies, but the frequency of secretor status in different ABO blood group systems has not been determined yet. Therefore, the aim of this study was mainly to determine this point. B...

  13. Blood group antigen A type 3 expression is a favorable prognostic factor in advanced NSCLC.

    Science.gov (United States)

    Schmidt, L H; Kuemmel, A; Schliemann, C; Schulze, A; Humberg, J; Mohr, M; Görlich, D; Hartmann, W; Bröckling, S; Marra, A; Hillejan, L; Goletz, S; Karsten, U; Berdel, W E; Spieker, T; Wiewrodt, R

    2016-02-01

    Several blood group-related carbohydrate antigens are prognosis-relevant markers of tumor tissues. A type 3 (repetitive A) is a blood group antigen specific for A1 erythrocytes. Its potential expression in tumor tissues has so far not been examined. We have evaluated its expression in normal lung and in lung cancer using a novel antibody (A69-A/E8). For comparison an anti-A antibody specific to A types 1 and 2 was used, because its expression on lung cancer tissue has been previously reported to be of prognostic relevance. Resected tissue samples of 398 NSCLC patients were analyzed in immunohistochemistry using tissue microarrays. Expression of A type 3 was not observed in non-malignant lung tissues. A type 3 was expressed on tumor cells of around half of NSCLC patients of blood group A1 (ptype 1/2 antigen was observed (p=0.562), the expression of A type 3 by tumor cells indicated a highly significant favorable prognosis among advanced NSCLC patients (p=0.011) and in NSCLC patients with lymphatic spread (p=0.014). Univariate prognostic results were confirmed in a Cox proportional hazards model. In this study we present for the first time prognostic data for A type 3 antigen expression in lung cancer patients. Prospective studies should be performed to confirm the prognostic value of A type 3 expression for an improved risk stratification in NSCLC patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  14. Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands

    DEFF Research Database (Denmark)

    Milman, Nils; á Steig, Torkil; Koefoed, Pernille

    2004-01-01

    on the HFE gene was assessed by genotyping using the polymerase chain reaction (PCR) technique and calculated from direct allele counting. We found no C282Y homozygous subjects; 28 (14.0%) subjects were C282Y heterozygous and four subjects were C282Y/H63D compound heterozygous (2.0%). The C282Y allele......The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C282Y, H63D, and S65C in the population in the Faroe Islands. The series comprised 200 randomly selected blood donors of Faroese heritage. The frequency of the C282Y, H63D, and S65C mutations.......6%. Screening of larger groups of the Faroese population for HFE mutations especially C282Y should be considered in order to establish the penetrance....

  15. Reliable allele detection using SNP-based PCR primers containing Locked Nucleic Acid: application in genetic mapping

    Directory of Open Access Journals (Sweden)

    Trognitz Friederike

    2007-02-01

    of 16 chromosome-specific COSII markers and to assign eight of the twelve linkage groups to consensus Solanum chromosomes. Conclusion The method based on individual allelic variants allows for a level-of-magnitude higher resolution of genetic variation than conventional marker techniques. We show that the majority of monomorphic molecular marker fragments from organisms with reduced heterozygosity levels still contain SNPs that are sufficient to trace individual alleles.

  16. Distortion of maternal-fetal angiotensin II type 1 receptor allele transmission in pre-eclampsia.

    Science.gov (United States)

    Morgan, L; Crawshaw, S; Baker, P N; Brookfield, J F; Broughton Pipkin, F; Kalsheker, N

    1998-01-01

    OBJECTIVE: To investigate the fetal angiotensin II type 1 receptor genotype in pre-eclampsia. DESIGN: Case-control study. POPULATION: Forty-one maternal-fetal pairs from pre-eclamptic pregnancies and 80 maternal-fetal pairs from normotensive pregnancies. METHODS: Maternal and fetal DNA was genotyped at three diallelic polymorphisms, at nucleotides 573, 1062, and 1166, in the coding exon of the angiotensin II type 1 receptor gene, and at a dinucleotide repeat polymorphism in its 3' flanking region. RESULTS: Allele and genotype frequencies at the four polymorphic regions investigated did not differ between pre-eclamptic and normotensive groups, in either fetal or maternal samples. Mothers heterozygous for the dinucleotide repeat allele designated A4 transmitted this allele to the fetus in 15 of 18 informative pre-eclamptic pregnancies and in eight of 26 normotensive pregnancies. This was greater than the expected probability in pre-eclamptic pregnancies (p=0.04) and less than expected in normotensive pregnancies (p<0.005). The 573T variant, which is in partial linkage disequilibrium with the A4 allele, showed a similar distortion of maternal-fetal transmission. CONCLUSION: Angiotensin II type 1 receptor gene expression in the fetus may contribute to the aetiology of pre-eclampsia. It is unclear whether susceptibility is conferred by the fetal genotype acting alone, or by allele sharing by mother and fetus. Possible mechanisms for the effect of the angiotensin II type 1 receptor gene are suggested by the association of the 573T variant with low levels of surface receptor expression on platelets. If receptor expression is similarly genetically determined in the placenta, responsiveness to angiotensin II may be affected, with the potential to influence placentation or placental prostaglandin secretion. PMID:9719367

  17. Profiles of blood and blood component transfusion recipients in Zimbabwe

    Science.gov (United States)

    Mafirakureva, Nyashadzaishe; Khoza, Star; Hassall, Oliver; Faragher, Brian E.; Kajja, Isaac; Mvere, David A.; Emmanuel, Jean C.; Postma, Maarten J.; van Hulst, Marinus

    2015-01-01

    Background There are limited published data on the characteristics of blood transfusion recipients in sub-Saharan Africa. This study describes the demographic characteristics of blood transfusion recipients and patterns of blood and blood component use in Zimbabwe. Materials and methods Data on the characteristics of the blood transfusion recipients (age, sex, blood group), blood components received (type, quantity), discharge diagnoses and outcomes following transfusion (discharge status, duration of stay in hospital), were retrospectively collected from four major hospitals for the period from January 1, 2012 to December 31, 2012. Diagnoses were grouped into broad categories according to the disease headings of the International Classification of Diseases (ICD-10). Surgical procedures were grouped into broad categories according to organ system using ICD-9. Results Most of the 1,793 transfusion recipients studied were female (63.2%) and in the reproductive age group, i.e. 15–49 years (65.3%). The median age of the recipients was 33 years (range, 0–93). The majority of these recipients (n=1,642; 91.6%) received a red blood cell transfusion. The majority of the patients were diagnosed with conditions related to pregnancy and childbirth (22.3%), and diseases of blood and blood-forming organs (17.7%). The median time spent in hospital was 8 days (range, 0–214) and in-hospital mortality was 15.4%. Discussion Our sample of blood transfusion recipients were fairly young and most of them received red blood cell transfusions. The majority of patients in the reproductive age group received blood transfusions for pregnancy and childbirth-related diagnoses. PMID:26192782

  18. Determination of allele frequencies in nine short tandem repeat loci ...

    African Journals Online (AJOL)

    SERVER

    2008-04-17

    Apr 17, 2008 ... the normal cellular process of replication of DNA molecules. ... probability of a certain genetic variant (alleles) occuring in ... have preservatives that hinder spoilage and are easily packaged .... Allele distribution at Nine STR.

  19. [Analysis of Correlation between IgG Titer of Pregnant Women and Neonatal Hemolytic Complications of Different Blood Groups].

    Science.gov (United States)

    Ye, Hai-Hui; Huang, Hong-Hai; Wang, Xiao-Lin; Pi, You-Jun

    2017-10-01

    To study the relationship between IgG titer of pregnant women and hemolytic disease of newborn(HDN) with different blood groups. Four hundred pregnant women, including pregnant women with type O blood, were selected from May 2014 to January 2015 in our hospital for inspection and a couple of different blood groups, the IgG titer of pregnant women were detected in the inspection process. According to neonatal HDN, newborns were divided into 2 groups: HDN group(85 cases) and non-HDN group(315 cases). The incidence of postpartum neonatal hemolytic disease was tracked and the correlation of IgG titers with HDN were systematically analyzed. In the production and inspection process, the IgG titer in pregnant women was divided into groups. the comparison of HDN incidence rate in 4 groups of IgG titer >64 and IgG titer group showed that the prevalence of ABO hemolytic disease of newborn were 96.9%, 79.6%, 63, 7% and 28.8%, there was a certain correlation of pregnant women IgG titers with ABO hemolytic disease of the newborn, that is, with the increase of IgG titer, the incidence of hemolytic disease of newborns increased in certain degree (r=0.8832), the risk in 4 groups of neonatal HDN was higher than that in IgG titer 64 HDN group. There is a certain corelation between prevalence of ABO-HDN and IgG titer of pregnant women. For these pregnant women, the control of the pregnant women IgG titer has a positive clinical significance to reduce the incidence of hemolytic disease of the newborn.

  20. Grupos sanguíneos e lúpus eritematoso crônico discoide Blood groups and discoid lupus erythematosus

    Directory of Open Access Journals (Sweden)

    Andréia de Almeida Tamega

    2009-10-01

    Full Text Available FUNDAMENTOS: Lesão discoide é a manifestação cutânea mais comum do lúpus eritematoso, e formas cutâneas crônicas apresentam características imunológicas próprias, direcionadas ao polo Th1. Diversas doenças possuem associação com grupos sanguíneos, o que não foi ainda estudado no lúpus discoide. OBJETIVO: Investigar a associação entre tipos sanguíneos (ABO e Rh e lúpus eritematoso discoide. MÉTODOS: Estudo prospectivo tipo transversal envolvendo tipagem sanguínea ABO e Rh, inquérito de dados clínicos e dosagem de FAN e C4 de portadores de lúpus discoide sem critérios de doença sistêmica, atendidos em hospital universitário. RESULTADOS: Foram incluídos no estudo 69 pacientes, sendo 71,0% do sexo feminino (p 1:160, em 31,9%; e níveis baixos de C4, em 8,7%. Não houve diferença significativa entre as frequências dos grupos sanguíneos dos pacientes e da população local; entretanto, o grupo A foi associado às formas disseminadas da doença (OR 4,1 e p Background: Discoid lesion is the commonest cutaneous finding in lupus erythematosus and chronic types have their own immunological features, with Th1 inflammation profile. Although many diseases have association with blood-group systems, this fact was not enlightened in discoid lupus erythematosus. Objective: To investigate the association between blood groups (ABO and Rh and discoid lupus erythematosus. Methods: A prospective cross-sectional study assessing clinical information, blood group systems (ABO and Rh, FAN and C4 serum levels from discoid lupus patients without characteristics of systemic disease, was carried out at a clinic from a Brazilian university hospital. Results: Sixty-nine patients were enrolled in the study, 71.0% were females (p1:160 in 31.9%, and low levels of C4 in 8.7%. There was no significant difference between the frequency of blood groups from discoid lupus patients and local population, however, blood group A was associated to

  1. DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy status

    DEFF Research Database (Denmark)

    Weiner Lachmi, Karin; Lin, Ling; Kornum, Birgitte Rahbek

    2012-01-01

    The association of narcolepsy-cataplexy, a sleep disorder caused by the loss of hypocretin/orexin neurons in the hypothalamus, with DQA1*01:02-DQB1*06:02 is one of the tightest known single-allele human leukocyte antigen (HLA) associations. In this study, we explored genome-wide expression...

  2. Detection of individual radiosensitivity by radiation–induced micronuclei in human peripheral blood lymphocytes and polymorphisms in DNA repair genes

    Energy Technology Data Exchange (ETDEWEB)

    Staynova, A.; Hadjidekova, V.; Popova, L.; Hristova, R. [Radiation Genetics Laboratory, National Centre of Radiobology and Radiation Protection, Sofia (Bulgaria); Savov, A. [National Genetic Laboratory, University Hospital of Obstetrics and Gynecology, Sofia (Bulgaria)

    2013-07-01

    Aim: To investigate the association of two polymorphisms – in XRCC1 gene (Arg399Gln) and in APE1 gene (Asp148Glu) and the radiation induced frequency of micronuclei in human peripheral blood lymphocytes. Material and methods: Genomic DNA from 34 cancer patients and 52 controls were genotyped using PCR–RFLP technique. Micronucleus test (MNT) was performed on 15 cancer patients and 15 controls, before and after in vitro irradiation with 2Gy gamma rays. Results: The data showed that cancer patients had a significantly higher spontaneous frequency of cells with micronuclei than controls (P=0.009). No statistical difference was registered when comparing the mean frequency of cells with micronuclei after in vitro irradiation between these groups. Four subjects were selected as radiosensitive after applying cut–off of the mean frequency of radiation induced micronuclei. Three of them are carriers of the XRCC1 399Gln allele and two of them are carriers of the APE1 148Glu allele. (author)

  3. Antibodies to AB blood group antigens mimic anti-salivary duct autoantibodies in patients with limited sicca symptoms.

    Science.gov (United States)

    Goldblatt, F; Beroukas, D; Gillis, D; Cavill, D; Bradwell, A; Rischmueller, M; Gordon, T P

    2000-10-01

    We evaluated the clinical relevance and pathogenic significance of anti-salivary duct autoantibodies (ASDA) in Sjögren's syndrome (SS) and rheumatoid arthritis (RA) by examining (1) their frequency in healthy controls, patients with sicca symptoms, and patients with various autoimmune and infective disorders; (2) their localization by confocal microscopy; and (3) their tissue distribution and cross reactivity with blood group antigens. Indirect immunofluorescence (IF) was performed on commercial cryostat sections of monkey parotid salivary gland. Sections were examined by fluorescence and confocal laser scanning microscopy. Sera giving positive staining on the ducts were tested by IF on a range of monkey tissues and salivary glands from several mammalian species. Blocking experiments were performed with human erythrocytes of different ABO blood groups and AB antigens. We identified 2 distinct ductal staining patterns. The first resembled ASDA described in earlier studies and showed patchy bright staining of the apical (luminal) surfaces of the ducts and staining of apical cytoplasmic vesicles. The other was only observed with anti-mitochondrial antibody positive sera and stained the mitochondrial-rich ductal epithelium in a distinctive punctate pattern. Antibodies staining the apical surface of ducts were detected rarely in patients with antiRo/La autoantibody-positive primary SS (1/76) and RA (1/36) and were found in only 1115 with RA and secondary SS. ASDA were detected in sera from 13/51 (25.5%) of patients referred to our clinic with limited sicca symptoms who were anti-Ro/La antibody-negative and had no typical clinical or laboratory features of classical primary SS. The apical ductal staining pattern was not observed with sera from 63 healthy controls without sicca symptoms or in patients with autoimmune and infective disorders. Twelve of the 13 patients whose sera gave ASDA-like staining were blood group O and one group A. Ductal staining was abolished in

  4. Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue

    Science.gov (United States)

    2013-01-01

    Background Genotyping requires biological sample collection that must be reliable, convenient and acceptable for patients and clinicians. Finding the most optimal procedure of sample collection for premature neonates who have a very limited blood volume is a particular challenge. The aim of the current study was to evaluate the use of umbilical cord (UC) tissue and newborn dried blood spot (DBS)-extracted genomic DNA (gDNA) as an alternative to venous blood-derived gDNA from premature neonates for molecular genetic analysis. All samples were obtained from premature newborn infants between 24-32 weeks of gestation. Paired blood and UC samples were collected from 31 study participants. gDNA was extracted from ethylenediaminetetraacetic acid (EDTA) anticoagulant-treated blood samples (~500 μl) and newborn DBSs (n = 723) using QIAamp DNA Micro kit (Qiagen Ltd., Crawley, UK); and from UC using Qiagen DNAeasy Blood and Tissue kit (Qiagen Ltd., Crawley, UK). gDNA was quantified and purity confirmed by measuring the A260:A280 ratio. PCR amplification and pyrosequencing was carried out to determine suitability of the gDNA for molecular genetic analysis. Minor allele frequency of two unrelated single nucleotide polymorphisms (SNPs) was calculated using the entire cohort. Results Both whole blood samples and UC tissue provided good quality and yield of gDNA, which was considerably less from newborn DBS. The gDNA purity was also reduced after 3 years of storage of the newborn DBS. PCR amplification of three unrelated genes resulted in clear products in all whole blood and UC samples and 86%-100% of newborn DBS. Genotyping using pyrosequencing showed 100% concordance in the paired UC and whole blood samples. Minor allele frequencies of the two SNPs indicated that no maternal gDNA contamination occurred in the genotyping of the UC samples. Conclusions gDNAs from all three sources are suitable for standard PCR and pyrosequencing assays. Given that UC provide good quality

  5. Human leukocyte antigen-e alleles are associated with hepatitis c virus, torque teno virus, and toxoplasma co-infections but are not associated with hepatitis b virus, hepatitis d virus, and GB virus c co-infections in human immunodeficiency virus patients

    Directory of Open Access Journals (Sweden)

    Afiono Agung Prasetyo

    2016-01-01

    Full Text Available Context: Data regarding the distribution of Human Leukocyte Antigen (HLA-E alleles and their association with blood-borne pathogen infections/co-infections are limited for many populations, including Indonesia. Aims: The aim of this study was to analyze the association between HLA-E allelic variants and infection with blood-borne pathogens such as hepatitis B virus (HBV, hepatitis C virus (HCV, hepatitis D virus (HDV, torque teno virus (TTV, GB virus C (GBV-C, and Toxoplasma gondii (T. gondii in Indonesian Javanese human immunodeficiency virus (HIV patients. Settings and Design: A total of 320 anti-HIV-positive blood samples were analyzed for HBV, HCV, HDV, TTV, GBV-C, and T. gondii infection status and its association with HLA-E allelic variants. Materials and Methods: Nucleic acid was extracted from plasma samples and used for the molecular detection of HBV DNA, HCV RNA, HDV RNA, TTV DNA, and GBV-C RNA, whereas hepatitis B surface antigen, anti-HCV, immunoglobulin M and G (IgM and IgG anti-T. gondii were detected through serological testing. The blood samples were genotyped for HLA-E loci using a sequence-specific primer-polymerase chain reaction. Statistical Analysis Used: Either the Chi-square or Fisher′s exact test was performed to analyze the frequency of HLA-E alleles and blood-borne pathogen infections in the population. Odds ratios (ORs were calculated to measure the association between the antibodies found and the participants′ possible risk behaviors. A logistic regression analysis was used to assess the associations. Results: HLA-EFNx010101/0101 was associated with HCV/TTV co-infection (adjusted OR [aOR]: 3.5; 95% confidence interval [CI]: 1.156-10.734; P = 0.027 and IgM/IgG anti-Toxo positivity (aOR: 27.0; 95% CI: 3.626-200.472; P = 0.001. HLA-EFNx010103/0103 was associated with TTV co-infection (aOR: 2.7; 95% CI: 1.509-4.796; P = 0.001. Conclusions: HLA-E alleles in Indonesian Javanese HIV patients were found to be associated

  6. QuASAR: quantitative allele-specific analysis of reads.

    Science.gov (United States)

    Harvey, Chris T; Moyerbrailean, Gregory A; Davis, Gordon O; Wen, Xiaoquan; Luca, Francesca; Pique-Regi, Roger

    2015-04-15

    Expression quantitative trait loci (eQTL) studies have discovered thousands of genetic variants that regulate gene expression, enabling a better understanding of the functional role of non-coding sequences. However, eQTL studies are costly, requiring large sample sizes and genome-wide genotyping of each sample. In contrast, analysis of allele-specific expression (ASE) is becoming a popular approach to detect the effect of genetic variation on gene expression, even within a single individual. This is typically achieved by counting the number of RNA-seq reads matching each allele at heterozygous sites and testing the null hypothesis of a 1:1 allelic ratio. In principle, when genotype information is not readily available, it could be inferred from the RNA-seq reads directly. However, there are currently no existing methods that jointly infer genotypes and conduct ASE inference, while considering uncertainty in the genotype calls. We present QuASAR, quantitative allele-specific analysis of reads, a novel statistical learning method for jointly detecting heterozygous genotypes and inferring ASE. The proposed ASE inference step takes into consideration the uncertainty in the genotype calls, while including parameters that model base-call errors in sequencing and allelic over-dispersion. We validated our method with experimental data for which high-quality genotypes are available. Results for an additional dataset with multiple replicates at different sequencing depths demonstrate that QuASAR is a powerful tool for ASE analysis when genotypes are not available. http://github.com/piquelab/QuASAR. fluca@wayne.edu or rpique@wayne.edu Supplementary Material is available at Bioinformatics online. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  7. Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

    NARCIS (Netherlands)

    Asfaw, B.; Ledvinova, J.; Dobrovolny, R.; Bakker, H.; Desnick, R.J.; Diggelen, O.P. van; Jong, J.G.N. de; Kanzaki, T.; Chabas, A.; Maire, I.; Conzelmann, E.; Schindler, D.

    2002-01-01

    Skin fibroblast cultures from patients with inherited lysosomal enzymopathies, alpha-N-acetylgalactosaminidase (alpha-NAGA) and alpha-galactosidase A deficiencies (Schindler and Fabry disease, respectively), and from normal controls were used to study in situ degradation of blood group A and B

  8. Effect of Qingnao tablet on blood viscosity of rat model of blood stasis induced by epinephrine

    Science.gov (United States)

    Xie, Guoqi; Hao, Shaojun; Ma, Zhenzhen; Liu, Xiaobin; Li, Jun; Li, Wenjun; Zhang, Zhengchen

    2018-04-01

    To establish a rat model of blood stasis with adrenaline (Adr) subcutaneous injection and ice bath stimulation. The effects of different doses on the blood viscosity of blood stasis model rats were observed. The rats were randomly divided into 6 groups: blank control group (no model), model group, positive control group, high, middle and low dose group. The whole blood viscosity and plasma viscosity were detected by blood viscosity instrument. Compared with the blank group, model group, high shear, low shear whole blood viscosity and plasma viscosity were significantly increased, TT PT significantly shortened, APTT was significantly prolonged, FIB increased significantly, indicating that the model was successful. Compared with the model group, can significantly reduce the Naoluotong group (cut, low cut). Qingnaopian high dose group (low cut), middle dose group (cut, low shear blood viscosity) (Pgroup, high dose group (Pgroup (Pblood rheology of blood stasis mice abnormal index, decrease the blood viscosity, blood stasis has certain hemostatic effect.

  9. ABO Blood Group and Prevalence of Osteoporosis and Osteopenia in the Elderly Population: An Amirkola Health and Ageing Project (AHAP)-Based Study.

    Science.gov (United States)

    Seyfizadeh, Nayer; Seyfizadeh, Narges; Negahdar, Hajar; Hosseini, Seyed Reza; Nooreddini, Hajighorban; Parsian, Hadi

    Osteoporosis is known as a degenerative disease of the skeletal system and its main complication is fracture, which influences quality of life in the elderly. There are 4 major blood groups in humans based on the presence of A and B antigens. According to the investigations, there are reported relations between blood types and some diseases. In this study, the association between the ABO blood group and the prevalence of osteoporosis and osteopenia in an elderly population was investigated. Medical records of 990 elderly people were investigated in a cross-sectional study and the association between their blood group and the incidence of osteoporosis and osteopenia was analyzed using SPSS version 17.0 (SPSS Inc., Chicago, IL, USA). The results showed that ABO blood groups had no association with the prevalence of osteoporosis in both elderly men and women. The association between age and osteoporosis was significant and the association between this disorder and gender was significant too. The results also indicate that there is no association between RH + and RH - blood types and osteoporosis and osteopenia in both men and women. Based on this finding, it would be reasonable to conduct extensive studies. Copyright © 2016. Published by Elsevier Inc.

  10. Distribution of a pseudodeficiency allele among Tay-Sachs carriers

    Energy Technology Data Exchange (ETDEWEB)

    Tomczak, J.; Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Boogen, C. (Univ. of Essen Medical School (Germany))

    1993-08-01

    Recently Triggs-Raine et al. (1992) identified a new mutation in the gene coding for the [alpha]-subunit of [beta]-hexosaminidase A (hex A), the enzyme whose deficiency causes Tay-Sachs disease. This mutation, a C[sub 739]-to-T transition in exon 7, results in an altered enzyme that is active (albeit at reduced levels) in cells but that has essentially no activity in serum. This so-called pseudodeficient allele was first detected in compound heterozygotes who also carried a Tay-Sachs disease allele and therefore had no detectable hex A in their serum but who were in good health. Carriers of this apparently benign mutation are generally indistinguishable from carriers of a lethal mutation by means of routine enzyme-based screening tests, because the product of the pseudodeficient allele is not detectable in serum and has decreased activity in cells. This suggests that some individuals who have been classified as Tay-Sachs carriers are actually carriers of the pseudodeficient allele and are not at risk to have a child affected with Tay-Sachs disease. The pseudodeficient allele may also be responsible for some inconclusive diagnoses, where leukocyte values fall below the normal range but are still above the carrier range. The fact that there are now two mutant alleles (the psuedodeficient and the adult) that are indistinguishable from the lethal infantile mutations by means of enzyme assay yet that are phenotypically very different and that together may account for as much as 12% of enzyme-defined carriers on the basis of the data here suggests that DNA analysis should be part of a comprehensive screening program. It will be particularly useful to identify the mutations in couples at risk, before they undergo prenatal diagnosis. DNA analysis will also resolve some inconclusive diagnoses.

  11. A common mutation associated with the Duarte galactosemia allele

    Energy Technology Data Exchange (ETDEWEB)

    Elsas, L.J.; Dembure, P.P.; Langley, S.; Paulk, E.M.; Hjelm, L.N.; Fridovich-Keil, J. (Emory Univ. School of Medicine, Atlanta, GA (United States))

    1994-06-01

    The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been cloned and sequenced. A prevalant mutation (Q188R) is known to cause classic galactosemia (G/G). G/G galactosemia has an incidence of 1/38,886 in 1,396,766 Georgia live-born infants, but a more common variant of galactosemia, Duarte, has an unknown incidence. The proposed Duarte biochemical phenotypes of GALT are as follows: D/N, D/D, and D/G, which have [approximately]75%, 50%, and 25% of normal GALT activity, respectively. In addition, the D allele has isoforms of its enzyme that have more acidic pI than normal. Here the authors systematically determine (a) the prevalence of an A-to-G transition at base pair 2744 of exon 10 in the GALT gene, a transition that produces a codon change converting asparagine to aspartic acid at position 314 (N314D), and (b) the association of this mutation with the Duarte biochemical phenotype. The 2744G nucleotide change adds an AvaII (SinI) cut site, which was identified in PCR-amplified DNA. In 111 biochemically unphenotyped controls with no history of galactosemia, 13 N314D alleles were identified (prevalence 5.9%). In a prospective study, 40 D alleles were biochemically phenotyped, and 40 N314D alleles were found. By contrast, in 36 individuals known not to have the Duarte biochemical phenotype, no N314D alleles were found. The authors conclude that the N314D mutation is a common allele that probably causes the Duarte GALT biochemical phenotype and occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9%. 36 refs., 3 figs., 2 tabs.

  12. Tracking human migrations by the analysis of the distribution of HLA alleles, lineages and haplotypes in closed and open populations

    Science.gov (United States)

    Vina, Marcelo A. Fernandez; Hollenbach, Jill A.; Lyke, Kirsten E.; Sztein, Marcelo B.; Maiers, Martin; Klitz, William; Cano, Pedro; Mack, Steven; Single, Richard; Brautbar, Chaim; Israel, Shosahna; Raimondi, Eduardo; Khoriaty, Evelyne; Inati, Adlette; Andreani, Marco; Testi, Manuela; Moraes, Maria Elisa; Thomson, Glenys; Stastny, Peter; Cao, Kai

    2012-01-01

    The human leucocyte antigen (HLA) system shows extensive variation in the number and function of loci and the number of alleles present at any one locus. Allele distribution has been analysed in many populations through the course of several decades, and the implementation of molecular typing has significantly increased the level of diversity revealing that many serotypes have multiple functional variants. While the degree of diversity in many populations is equivalent and may result from functional polymorphism(s) in peptide presentation, homogeneous and heterogeneous populations present contrasting numbers of alleles and lineages at the loci with high-density expression products. In spite of these differences, the homozygosity levels are comparable in almost all of them. The balanced distribution of HLA alleles is consistent with overdominant selection. The genetic distances between outbred populations correlate with their geographical locations; the formal genetic distance measurements are larger than expected between inbred populations in the same region. The latter present many unique alleles grouped in a few lineages consistent with limited founder polymorphism in which any novel allele may have been positively selected to enlarge the communal peptide-binding repertoire of a given population. On the other hand, it has been observed that some alleles are found in multiple populations with distinctive haplotypic associations suggesting that convergent evolution events may have taken place as well. It appears that the HLA system has been under strong selection, probably owing to its fundamental role in varying immune responses. Therefore, allelic diversity in HLA should be analysed in conjunction with other genetic markers to accurately track the migrations of modern humans. PMID:22312049

  13. Molecular elucidation of a new allelic variation at the Sg-5 gene associated with the absence of group A saponins in wild soybean.

    Science.gov (United States)

    Sundaramoorthy, Jagadeesh; Park, Gyu Tae; Mukaiyama, Kyosuke; Tsukamoto, Chigen; Chang, Jeong Ho; Lee, Jeong-Dong; Kim, Jeong Hoe; Seo, Hak Soo; Song, Jong Tae

    2018-01-01

    In soybean, triterpenoid saponin is one of the major secondary metabolites and is further classified into group A and DDMP saponins. Although they have known health benefits for humans and animals, acetylation of group A saponins causes bitterness and gives an astringent taste to soy products. Therefore, several studies are being conducted to eliminate acetylated group A saponins. Previous studies have isolated and characterized the Sg-5 (Glyma.15g243300) gene, which encodes the cytochrome P450 72A69 enzyme and is responsible for soyasapogenol A biosynthesis. In this study, we elucidated the molecular identity of a novel mutant of Glycine soja, 'CWS5095'. Phenotypic analysis using TLC and LC-PDA/MS/MS showed that the mutant 'CWS5095' did not produce any group A saponins. Segregation analysis showed that the absence of group A saponins is controlled by a single recessive allele. The locus was mapped on chromosome 15 (4.3 Mb) between Affx-89193969 and Affx-89134397 where the previously identified Glyma.15g243300 gene is positioned. Sequence analysis of the coding region for the Glyma.15g243300 gene revealed the presence of four SNPs in 'CWS5095' compared to the control lines. One of these four SNPs (G1127A) leads to the amino acid change Arg376Lys in the EXXR motif, which is invariably conserved among the CYP450 superfamily proteins. Co-segregation analysis showed that the missense mutation (Arg376Lys) was tightly linked with the absence of group A saponins in 'CWS5095'. Even though Arg and Lys have similar chemical features, the 3D modelled protein structure indicates that the replacement of Arg with Lys may cause a loss-of-function of the Sg-5 protein by inhibiting the stable binding of a heme cofactor to the CYP72A69 apoenzyme.

  14. A new AQP1 null allele identified in a Gypsy woman who developed an anti-CO3 during her first pregnancy.

    Science.gov (United States)

    Saison, C; Peyrard, T; Landre, C; Ballif, B A; Schlosser, K A; Dettori, I; Chicheportiche, C; Nemeth, P; Cartron, J-P; Arnaud, L

    2012-08-01

    The Colton blood group antigens are carried by the AQP1 water channel. AQP1(-/-) individuals, also known as Colton-null since they express no Colton antigens, do not suffer any apparent clinical consequence but may develop a clinically significant alloantibody (anti-CO3) induced by transfusion or pregnancy. Identification and transfusion support of Colton-null patients are highly challenging, not only due to the extreme rarity of this phenotype, the lack of appropriate reagents in most laboratories, as well as the possibility of confusing it with the recently described CO:-1,-2,3,-4 phenotype where AQP1 is present. This study investigated a new Colton-null case and evaluated three commercially available anti-AQP1s to identify Colton-null red blood cell samples. The Colton-null phenotype was investigated by standard serological techniques, AQP1 sequencing, immunoblot and flow cytometry analyses. We identified and characterized the Colton-null phenotype in a Gypsy woman who developed an anti-CO3 during her first pregnancy. After developing a simple and robust method to sequence AQP1, we showed that she was apparently homozygous for a new AQP1 null allele, AQP1 601delG, whose product is not expressed in her red blood cells. We also established the Colton specificity of three commercially available anti-AQP1s in immunoblot and/or flow cytometry analyses. This Gypsy woman represents the sixth Colton-null case characterized at the serological, genetic and biochemical levels. The validation here of new reagents and methods should facilitate the identification of Colton-null individuals. © 2012 The Author(s). Vox Sanguinis © 2012 International Society of Blood Transfusion.

  15. Clonal Ordering of 17p and 5q Allelic Losses in Barrett Dysplasia and Adenocarcinoma

    Science.gov (United States)

    Blount, Patricia L.; Meltzer, Stephen J.; Yin, Jing; Huang, Ying; Krasna, Mark J.; Reid, Brian J.

    1993-04-01

    Both 17p and 5q allelic losses appear to be involved in the pathogenesis or progression of many human solid tumors. In colon carcinogenesis, there is strong evidence that the targets of the 17p and 5q allelic losses are TP53, the gene encoding p53, and APC, respectively. It is widely accepted that 5q allelic losses precede 17p allelic losses in the progression to colonic carcinoma. The data, however, supporting this proposed order are largely based on the prevalence of 17p and 5q allelic losses in adenomas and unrelated adenocarcinomas from different patients. We investigated the order in which 17p and 5q allelic losses developed during neoplastic progression in Barrett esophagus by evaluating multiple aneuploid cell populations from the same patient. Using DNA content flow cytometric cell sorting and polymerase chain reaction, 38 aneuploid cell populations from 14 patients with Barrett esophagus who had high grade dysplasia, cancer or both were evaluated for 17p and 5q allelic losses. 17p allelic losses preceded 5q allelic losses in 7 patients, both 17p and 5q allelic losses were present in all aneuploid populations of 4 patients, and only 17p (without 5q) allelic losses were present in the aneuploid populations of 3 patients. In no patient did we find that a 5q allelic loss preceded a 17p allelic loss. Our data suggest that 17p allelic losses typically occur before 5q allelic losses during neoplastic progression in Barrett esophagus.

  16. [Features of allele polymorphism of genes involved in homocysteine and folate metabolism in patients with atherosclerosis of the lower extremity arteries].

    Science.gov (United States)

    Klenkova, N A; Kapustin, S I; Saltykova, N B; Shmeleva, V M; Blinov, M N

    2009-01-01

    Under study were features of allele polymorphism of genes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MS A 2756G), methionine synthase reductase (MTRR A66G) and methylenetetrahydrofolate dehydrogenase (MTHFD G1958A) in patients with atherosclerosis of the lower extremity arteries (ALEA). Patients with hyperhomocysteinemia (HHcy) had statistically significant increase of allele MTHFR 677T and MTRR 66GG as compared both with the control group and with the group of patients without HHcy. It suggests that polymorphism of genes involved in homocystein and folate metabolism might affect the risk of HHcy in patients with ALEA.

  17. Overdispersion in allelic counts and θ-correction in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben

    2010-01-01

    We present a statistical model for incorporating the extra variability in allelic counts due to subpopulation structures. In forensic genetics, this effect is modelled by the identical-by-descent parameter θ, which measures the relationship between pairs of alleles within a population relative...... with computation of the profile log-likelihood, confidence intervals and hypothesis testing. In order to compare our method with existing methods, we reanalysed FBI data from Budowle and Moretti (1999) with allele counts in six US subpopulations. Furthermore, we investigate properties of our methodology from...

  18. Allele specific expression in worker reproduction genes in the bumblebee Bombus terrestris

    Directory of Open Access Journals (Sweden)

    Harindra E. Amarasinghe

    2015-07-01

    Full Text Available Methylation has previously been associated with allele specific expression in ants. Recently, we found methylation is important in worker reproduction in the bumblebee Bombus terrestris. Here we searched for allele specific expression in twelve genes associated with worker reproduction in bees. We found allele specific expression in Ecdysone 20 monooxygenase and IMP-L2-like. Although we were unable to confirm a genetic or epigenetic cause for this allele specific expression, the expression patterns of the two genes match those predicted for imprinted genes.

  19. Comparative frequency and allelic distribution of ABO and Rh (D ...

    African Journals Online (AJOL)

    Gourab Dewan

    2015-02-18

    Feb 18, 2015 ... desh and having borders with India and Myanmar (Fig. 1). It is a hilly area with ..... calculated allelic frequencies for ABO/Rh systems previously. Therefore, allelic .... in backward caste population of Uttar Pradesh, India. Not Sci.

  20. The use of blood protein polymorphism to estimate genetic distance among populations of Indonesian native sheep, St. Croix and Merino

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    Agus Suparyanto

    2002-03-01

    Full Text Available The genetic distance among populations of Indonesia native sheep (Ciamis, Garut, Sumatera and Garahan, St. Croix and Merino were estimated to investigate the genetic relationship among those breeds. Blood protein polymorphism of transferin (Tf, post-transferin (PTf, albumin (Alb, post-albumin (PAlb were detected from blood plasma, while haemoglobine (Hb was detected from erythrocyte using Polyacrylamide Gel Electrophoresis (PAGE. Results of PAGE showed that Tf was controlled by 6 alleles, while Alb by 4 alleles, PTf by 3 Alleles and PAlb and Hb by 2 alleles. Value of breeding coefficient within individual subpopulations (FIS for Tf (-0,0014, Alb (-0,0046 and Hb (0,0256 were not significantly different by noel. These results show that data of gene frequency are still following Hardy-Weinberg Equilibrium and inbreeding inside the sub population did not occur. The closest distance among the native breeds is the subpopulations of Ciamis and Garut due to neighboring area and similar traits of Thin Tail Sheep. The genetic distance of both population to Sumatera Thin Tail Sheep and Garahan Fat Tail are quite far. In addition to that results all Indonesian native breed were distinctly different from St. Croix and Merino.