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Sample records for carrier polymorphism determines

  1. Reduced folate carrier polymorphism determines methotrexate uptake by B cells and CD4+ T cells

    DEFF Research Database (Denmark)

    Baslund, B; Gregers, J; Nielsen, Claus Henrik

    2008-01-01

    To examine if polymorphism 80G --> A in the Reduced Folate Carrier (RFC) affects uptake of MTX in B- and CD4+ T-cells.......To examine if polymorphism 80G --> A in the Reduced Folate Carrier (RFC) affects uptake of MTX in B- and CD4+ T-cells....

  2. Influence of polymorphic OATP1B-type carriers on the disposition of docetaxel

    NARCIS (Netherlands)

    A.J.M. de Graan (Anne-Joy); C.S. Lancaster (Cynthia); A. Obaidat (Amanda); B. Hagenbuch (Bruno); L. Elens (Laure); L.E. Friberg (Lena); P. de Bruijn (Peter); S. Hu (Shuiying); A.A. Gibson; G.H. Bruun (G.); T.J. Corydon (T.); T.S. Mikkelsen; A.L. Walker (Aisha); G. Du (Guoqing); W.J. Loos (Walter); R.H.N. van Schaik (Ron); S.D. Baker (Sharyn); A.H.J. Mathijssen (Ron); A. Sparreboom (Alex)

    2012-01-01

    textabstractPurpose: Docetaxel is extensively metabolized by CYP3A4 in the liver but mechanisms by which the drug is taken up into hepatocytes remain poorly understood. We hypothesized that (i) liver uptake of docetaxel is mediated by the polymorphic solute carriers OATP1B1 and OATP1B3 and (ii) inhe

  3. Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers

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    Johnson Peter W

    2006-03-01

    Full Text Available Abstract Background The MDM2 gene encodes a negative regulator of the p53 tumour suppressor protein. A single nucleotide polymorphism (SNP in the MDM2 promoter (a T to G exchange at nucleotide 309 has been reported to produce accelerated tumour formation in individuals with inherited p53 mutations. We have investigated the effect of the MDM2 SNP309 on clinical outcome in a cohort of patients with germline mutations of BRCA1. Methods Genomic DNA was obtained for 102 healthy controls and 116 patients with established pathogenic mutations of BRCA1 and Pyrosequencing technology™ was used to determine the genotype at the MDM2 SNP309 locus. Results The polymorphism was present in 52.9% of the controls (G/T in 37.3% and G/G in 15.6% and 58.6% of the BRCA1 mutation carriers (47.4% G/T and 11.2% G/G. Incidence of malignancy in female BRCA1 carriers was not significantly higher in SNP309 carriers than in wildtype (T/T individuals (72.7% vs. 75.6%, p = 1.00. Mean age of diagnosis of first breast cancer was 41.2 years in the SNP309 G/G genotype carriers, 38.6 years in those with the SNP309 G/T genotype and 39.0 years in wildtype subjects (p = 0.80. Conclusion We found no evidence that the MDM2 SNP309 accelerates tumour development in carriers of known pathogenic germline mutations of BRCA1.

  4. RESTRICTION FRAGMENT LENGTH POLYMORPHISMS ASSOCIATED WITH FACTOR Ⅷ CARRIER DETECTION USING DNA RFLPs IN CHINESE

    Institute of Scientific and Technical Information of China (English)

    汪运山; 王德芬; 曾畿生

    1992-01-01

    RFLPs for XbaI, BelI and BglI sites of human FⅧwere informative for 48%, 41% and 15% of females studied, respectively. BglI RFLP is different from that reported by Chan et al, a fact suggests Yangtze River region population of China would be at variance with the Southern Chinese population in certain RFLP distribution. TaqI allelic system Ⅰin the DXS52 region also shows the same variance among them, but heterozygous rate 0f 71% for system Ⅰ(alleles 1 to 8) and 49% for system Ⅱ(αand βalleles) were very similar. Using the Bell/XbaI RFLPs, accurate information could be obtained from this study for 56% of women who were at risk for hemophilia A (HA) carriership. The carrier of the remaining 44% could be determined by utilizing the TaqI RFLP. In addition, we report a new intergenie polymorphism (9%) at DXS115 as a marker for detection of heterozygotes in families at risk for HA. The advantage of using the XbaI/KpnI RFLP is that both the intragemie RFLP and the new intergenie RFLP can be evaluated on the same blot at the same time.

  5. Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain infarction.

    Science.gov (United States)

    Cho, Yunkyung; Kim, Jung O; Lee, Jeong Han; Park, Hye Mi; Jeon, Young Joo; Oh, Seung Hun; Bae, Jinkun; Park, Young Seok; Kim, Ok Joon; Kim, Nam Keun

    2015-01-01

    Stroke is the second leading cause of death in the world and in South Korea. Ischemic stroke and silent brain infarction (SBI) are complex, multifactorial diseases influenced by multiple genetic and environmental factors. Moderately elevated plasma homocysteine levels are a major risk factor for vascular diseases, including stroke and SBI. Folate and vitamin B12 are important regulators of homocysteine metabolism. Reduced folate carrier (RFC), a bidirectional anion exchanger, mediates folate delivery to a variety of cells. We selected three known RFC-1 polymorphisms (-43C>T, 80A>G, 696T>C) and investigated their relationship to cerebral infarction in the Korean population. We used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze associations between the three RFC-1 polymorphisms, disease status, and folate and homocysteine levels in 584 ischemic stroke patients, 353 SBI patients, and 505 control subjects. The frequencies of the RFC-1 -43TT, 80GG, and 696CC genotypes differed significantly between the stroke and control groups. The RFC-1 80A>G substitution was also associated with small artery occlusion and SBI. In a gene-environment analysis, the RFC-1 -43C>T, 80A>G, and 696T>C polymorphisms in the ischemic stroke group had combined effects with all environmental factors. In summary, we found that the RFC-1 -43C>T, 80A>G, and 696T>C polymorphisms may be risk factors for ischemic stroke.

  6. The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers

    OpenAIRE

    2010-01-01

    Abstract The rs3834129 polymorphism, in the promoter of CASP8 gene, has been recently reported as associated with breast cancer risk in the general population, with the minor allele del having a protective effect. Some of the genetic variants found associated with breast cancer risk were reported as risk modifiers in individuals with mutations in BRCA1 and BRCA2 genes. Here, we tested the effect of the rs3834129 del allele on breast cancer risk in BRCA mutation carriers. The rs3834...

  7. AURKA F31I Polymorphism and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: A CIMBA study

    Science.gov (United States)

    Couch, Fergus J.; Sinilnikova, Olga; Vierkant, Robert A; Pankratz, V. Shane; Fredericksen, Zachary S.; Stoppa-Lyonnet, Dominique; Coupier, Isabelle; Hughes, David; Hardouin, Agnès; Berthet, Pascaline; Peock, Susan; Cook, Margaret; Baynes, Caroline; Hodgson, Shirley; Morrison, Patrick J.; Porteous, Mary E.; Jakubowska, Anna; Lubinski, Jan; Gronwald, Jacek; Spurdle, Amanda B.; Schmutzler, Rita; Versmold, Beatrix; Engel, Christoph; Meindl, Alfons; Sutter, Christian; Horst, Jurgen; Schaefer, Dieter; Offit, Kenneth; Kirchhoff, Tomas; Andrulis, Irene L.; Ilyushik, Eduard; Glendon, Gordon; Devilee, Peter; Vreeswijk, Maaike P.G.; Vasen, Hans F.A.; Borg, Ake; Backenhorn, Katja; Struewing, Jeffery P.; Greene, Mark H.; Neuhausen, Susan L.; Rebbeck, Timothy R.; Nathanson, Katherine; Domchek, Susan; Wagner, Theresa; Garber, Judy E.; Szabo, Csilla; Zikan, Michal; Foretova, Lenka; Olson, Janet E.; Sellers, Thomas A.; Lindor, Noralane; Nevanlinna, Heli; Tommiska, Johanna; Aittomaki, Kristiina; Hamann, Ute; Rashid, Muhammad U.; Torres, Diana; Simard, Jacques; Durocher, Francine; Guenard, Frederic; Lynch, Henry T.; Isaacs, Claudine; Weitzel, Jeffrey; Olopade, Olufunmilayo I.; Narod, Steven; Daly, Mary B.; Godwin, Andrew K.; Tomlinson, Gail; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniouon, Antonis C.

    2009-01-01

    The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 co-operate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). CIMBA was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4935 BRCA1 and 2241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations were genotyped for F31I. Overall, homozygosity for the 31I allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined (HR = 0.91; 95% CI 0.77-1.06). Similarly, no significant association was seen in BRCA1 (HR = 0.90; 95% CI 0.75-1.08) or BRCA2 carriers (HR = 0.93; 95% CI 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers. PMID:17627006

  8. Calorimetric determinations and theoretical calculations of polymorphs of thalidomide

    Science.gov (United States)

    Lara-Ochoa, F.; Pérez, G. Espinosa; Mijangos-Santiago, F.

    2007-09-01

    The analysis of the thermograms of thalidomide obtained for the two reported polymorphs α and β by differential scanning calorimetry (DSC) shows some inconsistencies that are discussed in the present work. The conception of a new polymorph form, named β ∗, allowed us to explain the observed thermal behavior more satisfactorily. This new polymorph shows enantiotropy with both α and β polymorphs, reflected in the unique endotherm obtained in the DSC-thermograms, when a heating rate of 10 °C/min is applied. Several additional experiments, such as re-melting of both polymorph forms, showed that there is indeed a new polymorph with an endotherm located between the endotherms of α and β. IR, Raman, and powder X-ray permit us to characterize the isolated compound, resulting from the re-melting of both polymorph forms. Mechanical calculations were performed to elucidate the conformations of each polymorph, and ab initio quantum chemical calculations were performed to determine the energy of the more stable conformers and the spatial cell energy for both polymorphs α and β. These results suggested a possible conformation for the newly discovered polymorph β ∗.

  9. Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.

    Science.gov (United States)

    Vallance, Hilary; Morris, Tara J; Coulter-Mackie, Marion; Lim-Steele, Joyce; Kaback, Michael

    2006-02-01

    A DNA-proven Tay-Sachs disease (TSD) carrier and his brother were found to have serum percent Hexosaminidase A (%HexA) enzymatic activities in the non-carrier range, while the leukocyte %HexA profiles clearly identified them as TSD heterozygotes. Both their serum HexA and HexB enzymatic activities were below reference range, suggesting inheritance of mutations in both the HEXA (alpha-subunit) and HEXB (beta-subunit) genes. DNA sequencing revealed that both individuals, carried the common HEXA 1277_1278insTATC mutation, and two common HEXB polymorphisms: [619A>G (+) delTG]. To determine if these HEXB polymorphisms reduce HexA and HexB enzymatic activities, 69 DNA samples from subjects previously screened enzymatically in both serum and leukocytes for TSD carrier status were selected for either high, mid-range or low serum Total Hex (defined as the sum of HexA and HexB) activities and were tested for the HEXB mutations. Further, three additional TSD carriers ascertained by the atypical pattern of normal serum %HexA but carrier leukocyte %HexA, were found to have the [delTG (+) 619A>G] genotype. In addition, the frequency of the [delTG (+) 619A>G] genotype was significantly higher (P G] haplotype in the Ashkenazi Jewish population (approximately 10%), up to 10% of TSD carriers may have normal serum %HexA values with low total Hex. Accordingly, serum %HexA should not be the sole criterion used for carrier status determination. Where total Hex activity is reduced, further testing with leukocyte Hex profiles is indicated.

  10. Determination of VEGFR-2 (KDR 604A>G Polymorphism in Pancreatic Disorders

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    Vlad Pădureanu

    2017-02-01

    Full Text Available Pancreatic disorders have a high prevalence worldwide. Despite the fact that screening methods became more effective and the knowledge we have nowadays about pancreatic diseases has enhanced, their incidence remains high. Our purpose was to determine whether single nucleotide polymorphism (SNP of VEGFR-2/KDR (vascular endothelial growth factor receptor 2/kinase insert domain receptor influences susceptibility to develop pancreatic pathology. Genomic DNA was extracted from blood samples collected from patients diagnosed with acute pancreatitis (n = 110, chronic pancreatitis (n = 25, pancreatic cancer (n = 82 and healthy controls (n = 232. VEGFR-2 (KDR 604A>G (rs2071559 polymorphism frequency was determined with TaqMan allelic discrimination assays. Statistical assessment was performed by associating genetic polymorphism with clinical and pathological data. In both pancreatic disorders and healthy control groups the polymorphism we studied was in Hardy-Weinberg equilibrium. Association between increased risk for pancreatic disorders and studied polymorphism was statistically significant. KDR 604AG and AG + GG genotypes were more prevalent in acute pancreatitis and pancreatic cancer patients than in controls. These genotypes influence disease development in a low rate. No association was found between chronic pancreatitis and KDR 604AG and AG + GG genotypes. In Romanian cohort, we found an association between the KDR 604A→G polymorphism and acute pancreatitis and pancreatic cancer. Carriers of the -604G variant allele were more frequent among acute pancreatitis and pancreatic cancer than among controls, suggesting that KDR 604G allele may confer an increased risk for these diseases. In the future, more extensive studies on larger groups are necessary, in order to clarify the role of VEGFR2 polymorphisms in pancreatic pathology.

  11. Determination of VEGFR-2 (KDR) 604A>G Polymorphism in Pancreatic Disorders

    Science.gov (United States)

    Pădureanu, Vlad; Boldeanu, Mihail Virgil; Streaţă, Ioana; Cucu, Mihai Gabriel; Siloşi, Isabela; Boldeanu, Lidia; Bogdan, Maria; Enescu, Anca Ştefania; Forţofoiu, Maria; Enescu, Aurelia; Dumitrescu, Elena Mădălina; Alexandru, Dragoş; Şurlin, Valeriu Marian; Forţofoiu, Mircea Cătălin; Petrescu, Ileana Octavia; Petrescu, Florin; Ioana, Mihai; Ciurea, Marius Eugen; Săftoiu, Adrian

    2017-01-01

    Pancreatic disorders have a high prevalence worldwide. Despite the fact that screening methods became more effective and the knowledge we have nowadays about pancreatic diseases has enhanced, their incidence remains high. Our purpose was to determine whether single nucleotide polymorphism (SNP) of VEGFR-2/KDR (vascular endothelial growth factor receptor 2/kinase insert domain receptor) influences susceptibility to develop pancreatic pathology. Genomic DNA was extracted from blood samples collected from patients diagnosed with acute pancreatitis (n = 110), chronic pancreatitis (n = 25), pancreatic cancer (n = 82) and healthy controls (n = 232). VEGFR-2 (KDR) 604A>G (rs2071559) polymorphism frequency was determined with TaqMan allelic discrimination assays. Statistical assessment was performed by associating genetic polymorphism with clinical and pathological data. In both pancreatic disorders and healthy control groups the polymorphism we studied was in Hardy-Weinberg equilibrium. Association between increased risk for pancreatic disorders and studied polymorphism was statistically significant. KDR 604AG and AG + GG genotypes were more prevalent in acute pancreatitis and pancreatic cancer patients than in controls. These genotypes influence disease development in a low rate. No association was found between chronic pancreatitis and KDR 604AG and AG + GG genotypes. In Romanian cohort, we found an association between the KDR 604A→G polymorphism and acute pancreatitis and pancreatic cancer. Carriers of the -604G variant allele were more frequent among acute pancreatitis and pancreatic cancer than among controls, suggesting that KDR 604G allele may confer an increased risk for these diseases. In the future, more extensive studies on larger groups are necessary, in order to clarify the role of VEGFR2 polymorphisms in pancreatic pathology. PMID:28218664

  12. Reduced folate carrier polymorphism determines methotrexate uptake by B cells and CD4+ T cellsTumor necrosis factor-alpha binding capacity and anti-infliximab antibodies measured by fluid-phase radioimmunoassays as predictors of clinical efficacy of infliximab in Crohn's disease

    DEFF Research Database (Denmark)

    Baslund, B.; Gregers, J.; Nielsen, Claus Henrik

    2008-01-01

    OBJECTIVE: To examine if polymorphism 80G --> A in the Reduced Folate Carrier (RFC) affects uptake of MTX in B- and CD4+ T-cells. METHODS: Mononuclear cells were isolated from peripheral blood of healthy persons. Real-time PCR was used to detect the RFC80 variants. FITC-labelled MTX was added...... to cells stimulated with Candida albicans or tetanus toxoid, and the uptake of MTX was measured by flow cytometry. A FITC-conjugated monoclonal antibody against RFC was used to detect the cellular RFC expression. RESULTS: Antigen-stimulated CD4+ T cells and B cells from individuals with the GG variant (n...... = 9) exhibited lower uptake of MTX than individuals expressing the AA variant (n = 8), or the GA variant (n = 8). No difference could be demonstrated between the three groups with respect to the expression of RFC by CD4+ T cells and B cells, and CD4+ T cells from individuals homozygous for the G...

  13. Determining the approach speed envelope of carrier aircraft

    Institute of Scientific and Technical Information of China (English)

    Geng Jianzhong; Yao Hailin; Duan Zhuoyi

    2013-01-01

    Many factors,such as deck motion and air wave,influence the determination of the approach speed which has an important effect on landing safety. Until recently,there are no design criteria about approach speed of carrier aircraft in the current standards and available publications. Therefore,the requirements of stall margin, longitudinal acceleration ability,altitude correction and field-of-view on approach speed were researched. Based on the flight dynamics model,the flight simulations were conducted to study the effect of the response time of en-gine,wave off requirements,elevator efficiency and deflection rate on the approach speed. The results presented that the approach longitudinal acceleration and altitude correction ability had crucial influence on the approach speed envelope of the aircraft. The limitations of the control requirements,field-of-view requirements and gear were also given through the simulation and analysis. Based on the above results,the approach speed envelope were determined.

  14. Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample

    Directory of Open Access Journals (Sweden)

    Maria José Franco Brochado

    2016-02-01

    Full Text Available Natural resistance-associated macrophage protein 1/solute carrier family 11 member 1 gene (Nramp1/Slc11a1 is a gene that controls the susceptibility of inbred mice to intracellular pathogens. Polymorphisms in the human Slc11a1/Nramp1 gene have been associated with host susceptibility to leprosy. This study has evaluated nine polymorphisms of the Slc11a1/Nramp1 gene [(GTn, 274C/T, 469+14G/C, 577-18G/A, 823C/T, 1029 C/T, 1465-85G/A, 1703G/A, and 1729+55del4] in 86 leprosy patients (67 and 19 patients had the multibacillary and the paucibacillary clinical forms of the disease, respectively, and 239 healthy controls matched by age, gender, and ethnicity. The frequency of allele 2 of the (GTn polymorphism was higher in leprosy patients [p = 0.04, odds ratio (OR = 1.49], whereas the frequency of allele 3 was higher in the control group (p = 0.03; OR = 0.66. Patients carrying the 274T allele (p = 0.04; OR = 1.49 and TT homozygosis (p = 0.02; OR = 2.46, such as the 469+14C allele (p = 0.03; OR = 1.53 of the 274C/T and 469+14G/C polymorphisms, respectively, were more frequent in the leprosy group. The leprosy and control groups had similar frequency of the 577-18G/A, 823C/T, 1029C/T, 1465-85G/A, 1703G/A, and 1729+55del4 polymorphisms. The 274C/T polymorphism in exon 3 and the 469+14G/C polymorphism in intron 4 were associated with susceptibility to leprosy, while the allele 2 and 3 of the (GTn polymorphism in the promoter region were associated with susceptibility and protection to leprosy, respectively.

  15. Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample.

    Science.gov (United States)

    Brochado, Maria José Franco; Gatti, Maria Fernanda Chociay; Zago, Marco Antônio; Roselino, Ana Maria

    2016-02-01

    Natural resistance-associated macrophage protein 1/solute carrier family 11 member 1 gene (Nramp1/Slc11a1) is a gene that controls the susceptibility of inbred mice to intracellular pathogens. Polymorphisms in the human Slc11a1/Nramp1 gene have been associated with host susceptibility to leprosy. This study has evaluated nine polymorphisms of the Slc11a1/Nramp1 gene [(GT)n, 274C/T, 469+14G/C, 577-18G/A, 823C/T, 1029 C/T, 1465-85G/A, 1703G/A, and 1729+55del4] in 86 leprosy patients (67 and 19 patients had the multibacillary and the paucibacillary clinical forms of the disease, respectively), and 239 healthy controls matched by age, gender, and ethnicity. The frequency of allele 2 of the (GT)n polymorphism was higher in leprosy patients [p = 0.04, odds ratio (OR) = 1.49], whereas the frequency of allele 3 was higher in the control group (p = 0.03; OR = 0.66). Patients carrying the 274T allele (p = 0.04; OR = 1.49) and TT homozygosis (p = 0.02; OR = 2.46), such as the 469+14C allele (p = 0.03; OR = 1.53) of the 274C/T and 469+14G/C polymorphisms, respectively, were more frequent in the leprosy group. The leprosy and control groups had similar frequency of the 577-18G/A, 823C/T, 1029C/T, 1465-85G/A, 1703G/A, and 1729+55del4 polymorphisms. The 274C/T polymorphism in exon 3 and the 469+14G/C polymorphism in intron 4 were associated with susceptibility to leprosy, while the allele 2 and 3 of the (GT)n polymorphism in the promoter region were associated with susceptibility and protection to leprosy, respectively.

  16. Determination of the carrier envelope phase for short, circularly polarized laser pulses

    Science.gov (United States)

    Titov, Alexander I.; Kämpfer, Burkhard; Hosaka, Atsushi; Nousch, Tobias; Seipt, Daniel

    2016-02-01

    We analyze the impact of the carrier envelope phase on the differential cross sections of the Breit-Wheeler and the generalized Compton scattering in the interaction of a charged electron (positron) with an intensive ultrashort electromagnetic (laser) pulse. The differential cross sections as a function of the azimuthal angle of the outgoing electron have a clear bump structure, where the bump position coincides with the value of the carrier phase. This effect can be used for the carrier envelope phase determination.

  17. Accurate determination of minority carrier mobility in silicon from quasi-steady-state photoluminescence

    Science.gov (United States)

    Giesecke, J. A.; Schindler, F.; Bühler, M.; Schubert, M. C.; Warta, W.

    2013-06-01

    Minority carrier mobility is a crucial transport property affecting the performance of semiconductor devices such as solar cells. Compensation of dopant species and novel multicrystalline materials call for accurate knowledge of minority carrier mobility for device simulation and characterization. Yet, measurement techniques of minority carrier mobility are scarce, and published data scatter significantly even on monocrystalline material. In this paper, the determination of minority carrier mobility from self-consistent quasi-steady-state photoluminescence measurements of effective carrier lifetime is presented. The measurement design is distinguished by a limitation of carrier recombination through minority carrier transport—with excess carrier generation and recombination confined to opposite interfaces, respectively. Minority carrier mobility is inferred from the minority carrier diffusion coefficient via the Einstein relation. An experimental proof of concept on monocrystalline p-type material is provided, showing good agreement with state-of-the-art data and models. Considerations for the applicability of the method to compensated and multicrystalline silicon materials are discussed.

  18. Screening for JH1 genetic defect carriers in Jersey cattle by a polymerase chain reaction and restriction fragment length polymorphism assay.

    Science.gov (United States)

    Zhang, Yi; Guo, Gang; Huang, Hetian; Lu, Lu; Wang, Lijie; Fang, Lingzhao; Liu, Lin; Wang, Yachun; Zhang, Shengli

    2015-09-01

    An autosomal recessive genetic defect termed JH1 has been associated with early embryonic loss in the Jersey cattle breed. The genetic basis has been identified as a cytosine to thymine mutation in the CWC15 gene that changes an amino acid from arginine to a stop code. To screen for JH1 carriers in an imported Jersey population in China, a method based on a polymerase chain reaction amplification followed by a restriction fragment length polymorphism assay (PCR-RFLP) was developed for the accurate diagnosis of the JH1 allele. A total of 449 randomly chosen cows were examined with the PCR-RFLP assay, and 31 were identified as JH1 carriers, corresponding to a carrier frequency of 6.9%. The PCR-RFLP method was validated by DNA sequencing of 8 positive and 13 negative samples, with all 21 samples giving the expected DNA sequence. In addition, 3 negative and 3 positive samples were confirmed by a commercial microarray-based single nucleotide polymorphism assay. Finally, samples from 9 bulls in the United States of known status were correctly identified as carriers (5 bulls) or noncarriers (4 bulls). As the JH1 defect has most likely spread worldwide, implementing routine screening is necessary to avoid the risk of carrier-to-carrier matings and to gradually eradicate the deleterious gene.

  19. Efficacy of DNA double-strand breaks repair in breast cancer is decreased in carriers of the variant allele of the UBC9 gene c.73G>A polymorphism

    Energy Technology Data Exchange (ETDEWEB)

    Synowiec, Ewelina [Department of Molecular Genetics, University of Lodz, Lodz (Poland); Krupa, Renata [Laboratory of DNA Repair, Department of Molecular Genetics, University of Lodz, Banacha 12/16, Lodz (Poland); Morawiec, Zbigniew; Wasylecka, Maja [Department of Surgical Oncology, N. Copernicus Hospital, Lodz (Poland); Dziki, Lukasz; Morawiec, Jan [Department of General and Colorectal Surgery, Medical University of Lodz, Lodz (Poland); Blasiak, Janusz [Department of Molecular Genetics, University of Lodz, Lodz (Poland); Wozniak, Katarzyna, E-mail: wozniak@biol.uni.lodz.pl [Laboratory of DNA Repair, Department of Molecular Genetics, University of Lodz, Banacha 12/16, Lodz (Poland)

    2010-12-10

    UBC9 (E2) SUMO conjugating enzyme plays an important role in the maintenance of genome stability and integrity. In the present work we examined the association between the c.73G>A (Val25Met) polymorphism of the UBC9 gene (rs11553473) and efficacy of DNA double-strand breaks (DSBs) repair (DRE) in breast cancer patients. We determined the level of endogenous (basal) and exogenous (induced by {gamma}-irradiation) DSBs and efficacy of their repair in peripheral blood lymphocytes of 57 breast cancer patients and 70 healthy individuals. DNA damage and repair were studied by neutral comet assay. Genotypes were determined in DNA from peripheral blood lymphocytes by allele-specific PCR (ASO-PCR). We also correlated genotypes with the clinical characteristics of breast cancer patients. We observed a strong association between breast cancer occurrence and the variant allele carried genotypes in patients with elevated level of basal as well as induced DNA damage (OR 6.74, 95% CI 2.27-20.0 and OR 5.33, 95% CI 1.81-15.7, respectively). We also found statistically significant (p < 0.05) difference in DRE related to the c.73G>A polymorphism of the UBC9 gene in breast cancer patients. Carriers of variant allele have decreased DNA DRE as compared to wild type genotype carriers. We did not find any association with the UBC9 gene polymorphism and estrogen and progesterone receptor status. The variant allele of the UBC9 gene polymorphism was strongly inversely related to HER negative breast cancer patients (OR 0.03, 95% CI 0.00-0.23). Our results suggest that the c.73G>A polymorphism of the UBC9 gene may affect DNA DSBs repair efficacy in breast cancer patients.

  20. Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations.

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    Shenying Fang

    Full Text Available BACKGROUND: Previous studies have shown that MDM2 SNP309 and p53 codon 72 have modifier effects on germline P53 mutations, but those studies relied on case-only studies with small sample sizes. The impact of MDM4 polymorphism on tumor onset in germline mutation carriers has not previously been studied. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed 213 p53 germline mutation carriers including 168(78.9% affected with cancer and 174 who had genotypic data. We analyzed time to first cancer using Kaplan-Meier and Cox proportional hazards methods, comparing risks according to polymorphism genotypes. For MDM2 SNP309, a significant difference of 9.0 years in the average age of cancer diagnosis was observed between GG/GT and TT carriers (18.6 versus 27.6 years, P = 0.0087. The hazards ratio was 1.58 (P = 0.03 comparing risks among individuals with GG/GT to risk among TT, but this effect was only significant in females (HR = 1.60, P = 0.02. Compared to other genotypes, P53 codon 72 PP homozygotes had a 2.24 times (P = 0.03 higher rate for time to develop cancer. We observed a multiplicative joint effect of MDM2 and p53 codon72 polymorphism on risk. The MDM4 polymorphism had no significant effects. CONCLUSIONS/SIGNIFICANCE: Our results suggest that the MDM2 SNP309 G allele is associated with cancer risk in p53 germline mutation carriers and accelerates time to cancer onset with a pronounced effect in females. A multiplicative joint effect exists between the MDM2 SNP309 G allele and the p53 codon 72 G allele in the risk of cancer development. Our results further define cancer risk in carriers of germline p53 mutations.

  1. Determination of the carrier envelope phase for short, circularly polarized laser pulses

    CERN Document Server

    Titov, Alexander I; Hosaka, Atsushi; Nousch, Tobias; Seipt, Daniel

    2015-01-01

    We analyze the impact of the carrier envelope phase on the differential cross sections of the Breit-Wheeler and the generalized Compton scattering in the interaction of a charged electron (positron) with an intensive ultra-short electromagnetic (laser) pulse. The differential cross sections as a function of the azimuthal angle of the outgoing electron have a clear bump structure, where the bump position coincides with the value of the carrier phase. This effect can be used for the carrier envelope phase determination.

  2. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

    Science.gov (United States)

    Figus, A; Lampis, R; Devoto, M; Ristaldi, M S; Ideo, A; de Virgilis, S; Nurchi, A M; Corrias, A; Corda, R; Lai, M E

    1989-01-01

    Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. We confirmed a tight linkage [theta = 0.00, Z (theta) = 4.07] between the WND and ESD loci, and provided suggestive evidence for linkage [theta = 0.00, Z(theta) = 1.85] of the WND locus with D13S10. Multipoint linkage analysis indicated the following order: centromere-D13S1-D13S10-WND-ESD-D13S2. RFLP analysis at these two loci in our families allowed us either to define the carrier status (50%) or to exclude the homozygous state (25%) in the great majority of unaffected sibs. PMID:2563776

  3. Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism

    Directory of Open Access Journals (Sweden)

    A. García-Peiró

    2011-01-01

    Full Text Available Although several reports on male infertility suggest a relationship between chromosome 9 polymorphisms and infertility, the effects on the phenotype have not been extensively reported. In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD test have been applied to characterize sperm DNA integrity. In order to assess its meiotic behaviour, synapsis, recombination, and aneuploidy, analyses have been also performed. Sperm DNA fragmentation (SDF was 77.81% and 87% for the TUNEL and SCD tests, respectively. Ninety-two percent of pachytene cells analyzed showed meiotic abnormalities. The mean number of MLH1 foci per pachytene in the control group was higher (49 than the mean found in the 9qh+++ patient (38 (P<.0001. In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P<.0001. These disturbances could be present in other male carriers of a less marked 9qh+.

  4. GNSS Carrier Phase-based Attitude Determination: Estimation and Applications

    NARCIS (Netherlands)

    Giorgi, G.

    2011-01-01

    Attitude determination through the use of Global Navigation Satellite System (GNSS) signals is one of the many applications of satellite-based navigation. Multiple GNSS antennas installed on a given platform are used to provide orientation estimates, thus adding attitude information to the standard

  5. Determining the flow regime in a biofilm carrier by means of magnetic resonance imaging.

    Science.gov (United States)

    Herrling, Maria P; Guthausen, Gisela; Wagner, Michael; Lackner, Susanne; Horn, Harald

    2015-05-01

    Biofilms on cylindrical carrier material originating from a lab-scale moving bed biofilm reactor (MBBR) were investigated by means of Magnetic Resonance Imaging (MRI). The aim of this study was to determine the local flow velocities at the inner face of the biofilm carrier. To get an insight into the mass transport processes, flow velocity maps of blank and with biofilm cultivated carriers were measured. A single carrier was placed in a tube in three different orientations and exposed to flow velocities of 0.21, 0.42, and 0.64 mm/s. The interplay of the biofilm morphology and the local flow pattern was then analyzed including the effect of the orientation of the carrier in relation to the upstream flow angle. Within this study, the biofilm carrier can be understood as an interconnected system of four sections in which the incoming fluid volume will be distributed depending on the biomass occupation and morphology. In sections with high biofilm occupation, the flow resistance is increased. Depending on the orientation of the carrier in the flow field, this effect leads to flow evasion through less covered sections showing higher flow velocities and consequently the risk of biofilm detachment. However, there was no clear correlation between biofilm coverage and flow ratio.

  6. Micro-Satellite Attitude Determination Using GPS Carrier Phases

    Institute of Scientific and Technical Information of China (English)

    He Xiu-feng; Ling Keck-voon

    2003-01-01

    GPS is an attractive attitude sensor for micro-satellites due to small package and advantage for cost savings. However, the major difficulty in attitude determination for a micro-satellite is that baseline lengths are short (less than a meter) . Thus , to obtain precise accuracy of attitudes for a micro-satellite, the algorithm selection and error source calibration are important. In this paper, a technique based on the attitude cost function is proposed. To verify the method proposed, the experiments have been conducted. The results indicate that attitude errors are less than 1 deg.

  7. 75 FR 36679 - Polyethylene Retail Carrier Bags From China, Malaysia, and Thailand; Determinations

    Science.gov (United States)

    2010-06-28

    ... instituted these reviews on July 1, 2009 (74 FR 31750, July 2, 2009) and determined on October 5, 2009 that it would conduct full reviews (74 FR 54069, October 21, 2009). Notice of the scheduling of the... COMMISSION Polyethylene Retail Carrier Bags From China, Malaysia, and Thailand; Determinations On the...

  8. [TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].

    Science.gov (United States)

    Amosenko, F A; Trubnikova, I S; Zakhar'ev, V M; Bannikov, V M; Sazonova, M A; Petrova, N V; Kapranov, N I; Kaplinin, V N

    1997-02-01

    Data on the screening of 266 non-delta F508 chromosomes (42 cystic fibrosis patients, 43 carriers, and 48 healthy donors from the Moscow region) for the presence of structural abnormalities within the tenth exon of the CFTR gene conducted by means of the single-stranded conformation polymorphism (SSCP) technique in nonisotope modification are presented. The method used made it possible to detect three SSCP variants, one of which was present in cystic fibrosis patients (23.8%) and carriers (9.3%), but not in healthy donors. Sequencing of the 5 amplified DNA fragments carrying this SSCP variant revealed an A-->G substitution in the 1525-61 position, which indicated the presence of TUB9 polymorphism with allele 1 in the homozygous state in all cases tested. The three SSCP variants described corresponded to the three allelic variants of TUB9 polymorphism as judged by MnlI restriction analysis of the amplified tenth exon sequence. The modified SSCP technique is also suitable for routine screening for the G542X, G55ID, and W1282X point mutations within the CFTR gene. The frequency distribution of polymorphic TUB9 marker alleles across the non-delta F508 chromosomes in the three studied groups were estimated. Homozygotes for the TUB9 allele 1 were shown to have identical GATT-TUB9-M470V haplotypes.

  9. Model-independent determination of the carrier multiplication time constant in CdSe nanocrystals.

    Science.gov (United States)

    Califano, Marco

    2009-11-21

    The experimental determination of the carrier multiplication (CM) time constant is complicated by the fact that this process occurs within the initial few hundreds of femtoseconds after excitation and, in transient-absorption experiments, cannot be separated from the buildup time of the 1p-state population. This work provides an accurate theoretical determination of the electron relaxation lifetime during the last stage of the p-state buildup, in CdSe nanocrystals, in the presence of a single photogenerated hole (no CM) and of a hole plus an additional electron-hole pair (following CM). From the invariance of the 1p buildup time observed experimentally for excitations above and below the CM threshold producing hot carriers with the same average per-exciton excess energy, and the calculated corresponding variations in the electron decay time in the two cases, an estimate is obtained for the carrier multiplication time constant. Unlike previous estimates reported in the literature so far, this result is model-independent, i.e., is obtained without making any assumption on the nature of the mechanism governing carrier multiplication. It is then compared with the time constant calculated, as a function of the excitation energy, assuming an impact-ionization-like process for carrier multiplication (DCM). The two results are in good agreement and show that carrier multiplication can occur on timescales of the order of tens of femtoseconds at energies close to the observed onset. These findings, which are compatible with the fastest lifetime estimated experimentally, confirm the suitability of the impact-ionization model to explain carrier multiplication in CdSe nanocrystals.

  10. Synergistic effects between 561A > C and 98G > T polymorphisms of E-selectin gene and hypercholesterolemia in determining the susceptibility to coronary artery disease.

    Science.gov (United States)

    Zak, Iwona; Sarecka, Beata; Krauze, Jolanta

    2008-07-01

    Coronary artery disease (CAD) is a multifactorial disease that results from the interaction between genetic and traditional risk factors. The endothelium dysfunction plays a key role in the progression of atherosclerotic lesions. E-selectin is a marker of endothelium dysfunction. The aim of the present study was to find a relationship between 561A > C and 98G > T polymorphisms of E-selectin gene and CAD as well as interactions between these polymorphic variants and traditional risk factors of the disease in determining the susceptibility to CAD. The study population included 191 patients with angiographically documented CAD and 203 blood donors. The analysis of genetic polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism method. We found that the frequencies of 561C and 98T alleles of E-selectin gene and carriers of C and T alleles were similar in the entire groups as well as in the age-and sex-matched subgroups. We observed a strong significant correlation between those two polymorphisms; almost all subjects possessing one "proatherosclerotic" allele of E-selectin gene also had the second allele (r = 0.963, P C or 98G > T polymorphisms of E-selectin gene and hypercholesterolemia that cause a significant increase in the susceptibility to CAD.

  11. Determination of strains of Helicobacter pylori and of polymorphism in the interleukin-8 gene in patients with stomach cancer

    Directory of Open Access Journals (Sweden)

    Ruth Maria Dias Ferreira Vinagre

    2011-03-01

    Full Text Available CONTEXT: Gastric neoplasia is the second most common cause of death by cancer in the world and H. pylori is classified as a type I human carcinogen by the World Health Organization. However, despite the high prevalence of infection by H. pylori around the world, less than 3% of individuals carrying the bacteria develop gastric neoplasias. Such a fact indicates that evolution towards malignancy may be associated with bacterial factors in the host and the environment. OBJECTIVES: To investigate the association between polymorphism in the region promoting the IL-8 (-251 gene and the H. pylori genotype, based on the vacA alleles and the presence of the cagA gene, using clinical and histopathological data. METHODS: In a prospective study, a total of 102 patients with stomach cancer and 103 healthy volunteers were analysed. Polymorphism in interleukin 8 (-251 was determined by the PCR-restriction fragment length polymorphism reaction and sequencing. PCR was used for genotyping the vacA alleles and the cagA in the bacterial strains PCR. Gastric biopsies were histologically assessed. RESULTS: The H. pylori serology was positive for 101 (99% of all patients analysed, and 98 (97% of them were colonized by only one strain. In patients with monoinfection, 82 (84% of the bacterial strains observed had the s1b/m1 genotype. The cagA gene was detected in 74 (73% of patients infected by H. pylori. The presence of the cagA gene was demonstrated as associated with the presence of the s1b/m1 genotype of the vacA gene (P = 0.002. As for polymorphism in the interleukin 8 (-251 gene we observed that the AA (P = 0.026 and AT (P = 0.005 genotypes were most frequent in the group of patients with gastric adenocarcinoma. By comparing the different types of isolated bacterial strains with the interleukin -8 (-251 and the histopathological data we observed that carriers of the A allele (AT and AA infected by virulent strains (m1s1 cagA+ demonstrated a greater risk of

  12. Testing a new multivariate GNSS carrier phase attitude determination method for remote sensing platforms

    Science.gov (United States)

    Giorgi, Gabriele; Teunissen, Peter J. G.; Verhagen, Sandra; Buist, Peter J.

    2010-07-01

    GNSS (Global Navigation Satellite Systems)-based attitude determination is an important field of study, since it is a valuable technique for the orientation estimation of remote sensing platforms. To achieve highly accurate angular estimates, the precise GNSS carrier phase observables must be employed. However, in order to take full advantage of the high precision, the unknown integer ambiguities of the carrier phase observables need to be resolved. This contribution presents a GNSS carrier phase-based attitude determination method that determines the integer ambiguities and attitude in an integral manner, thereby fully exploiting the known body geometry of the multi-antennae configuration. It is shown that this integral approach aids the ambiguity resolution process tremendously and strongly improves the capacity of fixing the correct set of integer ambiguities. In this contribution, the challenging scenario of single-epoch, single-frequency attitude determination is addressed. This guarantees a total independence from carrier phase slips and losses of lock, and it also does not require any a priori motion model for the platform. The method presented is a multivariate constrained version of the popular LAMBDA method and it is tested on data collected during an airborne remote sensing campaign.

  13. The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.

    Science.gov (United States)

    Coppedè, Fabio; Lorenzoni, Valentina; Migliore, Lucia

    2013-07-05

    A common polymorphism (c.80A>G) in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth of a child with Down Syndrome (DS), but results are controversial. We searched major online databases to identify available case-control studies, and performed a meta-analysis to summarize the data concerning this association. Nine independent case-control studies were identified for a total of 930 DS mothers (MDS) and 1240 control mothers. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using both fixed and random effects models. An increase in the risk of having a birth with DS was observed for carriers of the homozygous GG genotype (OR 1.27, 95% CI 1.04-1.57; p = 0.02, fixed effects model), even after removal from the meta-analysis of published data with deviations from Hardy-Weinberg equilibrium (HWE) in controls (OR 1.26, 95% CI 1.02-1.55; p = 0.03, fixed effects model). Moreover, the pooled OR under the fixed effects model showed an increase in the maternal risk for the G allele (OR 1.14, 95% CI 1.01-1.30; p = 0.03). Present results suggest that the maternal RFC-1 80A>G polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype.

  14. Polymorphism of CYP11B2 determines salt sensitivity in Japanese.

    Science.gov (United States)

    Iwai, Naoharu; Kajimoto, Kazuaki; Tomoike, Hitonobu; Takashima, Naoyuki

    2007-04-01

    Aldosterone plays essential roles in body fluid and electrolyte homeostasis and blood pressure. However, the association between polymorphisms in the CYP11B2 gene and hypertension is controversial. We resequenced CYP11B1 and CYP11B2 and identified 35 polymorphisms in this region. We performed association studies between the plasma aldosterone concentration and 13 polymorphisms in this region in 1443 subjects. The subjects were all obtained from the Suita Cohort Study. Multiple regression analysis indicated that aldosterone levels were determined by renin activity, age, total cholesterol, and hematocrit. Residuals of the aldosterone levels after adjusting for these confounding factors were nominally associated with the T(-344)C (P=0.0026), C(595)T (P=0.0180), -(4837)C (P=0.0310), and G(4936)A (P=0.0498) polymorphisms. Only the T(-344)C polymorphism was significantly associated with the aldosterone level after a correction for multiple testing (Bonferroni). A significant interaction was observed between the T(-344)C polymorphism and renin activity in determining aldosterone levels. Moreover, a significant interaction was observed in 2063 subjects between urinary sodium excretion, which reflects sodium intake, and the T(-344)C polymorphism in determining systolic blood pressure. Only subjects with the TT genotype showed a positive correlation between urinary sodium excretion and systolic blood pressure. In vitro experiments confirmed the functional significance of this T(-344)C polymorphism in terms of angiotensin II reactivity. Thus, the T(-344)C polymorphism in CYP11B2 appears to affect salt sensitivity in Japanese and to have clinical significance.

  15. Initial determination of DNA polymorphism of some Primula veris L. populations from Kosovo and Austria

    OpenAIRE

    Berisha, Naim; Millaku, Fadil; Gashi, Bekim; Krasniqi, Elez; Novak, Johannes

    2014-01-01

    Primula veris L. (Primulaceae) is a long lived perennial and well known pharmaceutical plant, widely collected for these reasons in almost all SE Europe and particularly in Kosovo. The aim of the study is to determine molecular polymorphism of cowslip (P. veris L.) populations from Kosovo. DNA extracted from leaves were  investigated in details for presence of polymorphism. RAPD analyses were conducted using 20 different short primers. Genomic DNA amplification profiles were analyzed and proc...

  16. Determination of charge carrier mobility in doped low density polyethylene using DC transients

    DEFF Research Database (Denmark)

    Khalil, M.Salah; Henk, Peter O; Henriksen, Mogens

    1989-01-01

    Charge carrier mobility was determined for plain and doped low-density polyethylene (LDPE) using DC transient currents. Barium titanate was used as a strongly polar dopant and titanium dioxide as a semiconductor dopant. The values of the mobility obtained were on the order of 10-10 cm2 v-1 s-1...... by a factor of five. Charge trapping and space charge formation were modified by the introduction of titanium dioxide...

  17. The molecular effects of a polymorphism in the 5'UTR of solute carrier family 44, member 5 that is associated with birth weight in Holsteins.

    Directory of Open Access Journals (Sweden)

    Mayumi Sugimoto

    Full Text Available Dystocia is a major problem for the dairy cattle industry, and the observed high rates of this condition stem from genetic selection to increase subsequent milk production of the calving female. Because smaller birth size does not adversely affect subsequent milk production, selecting for cows with a smaller birth size would reduce dystocia rates and be beneficial for both the cattle and the farmers. To identify genes that regulate birth weight, we conducted a genome-wide association study using 1151 microsatellite markers and identified a single nucleotide polymorphism (SNP associated with birth weight: A-326G in the 5' untranslated region (UTR of solute carrier family 44, member 5 (SLC44A5. Cows with higher birth weights carried the A polymorphism in the SLC44A5 5' UTR, and the presence of the A polymorphism correlated with a high rate of dystocia. Luciferase assays and quantitative polymerase chain reaction (QPCR assays revealed that SLC44A5 transcripts with the A polymorphism are expressed at lower levels than those carrying the G polymorphism. SLC44A5 encodes a choline transporter-like protein, and choline is a component of the major phospholipids of cell membranes. Uptake studies in HeLa cells demonstrated that SLC44A5 knockdown reduces choline efflux, whereas SLC44A5 overexpression resulted in the opposite effect. Furthermore, cell viability assays indicated that SLC44A5 knockdown increased cell proliferation, whereas SLC44A5 overexpression repressed proliferation. Taken together, our results suggest that calves with reduced SLC44A5 expression are larger due to enhanced cell proliferation. This study provides novel insights into the molecular mechanisms that control birth weight in Holsteins and suggests that SLC44A5 may serve as a potential target for preventing dystocia.

  18. The Reduced Folate Carrier (RFC-1 80A>G Polymorphism and Maternal Risk of Having a Child with Down Syndrome: A Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Lucia Migliore

    2013-07-01

    Full Text Available A common polymorphism (c.80A>G in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1 has been associated with maternal risk of the birth of a child with Down Syndrome (DS, but results are controversial. We searched major online databases to identify available case-control studies, and performed a meta-analysis to summarize the data concerning this association. Nine independent case-control studies were identified for a total of 930 DS mothers (MDS and 1240 control mothers. Odds ratios (OR and 95% confidence intervals (CI were calculated using both fixed and random effects models. An increase in the risk of having a birth with DS was observed for carriers of the homozygous GG genotype (OR 1.27, 95% CI 1.04–1.57; p = 0.02, fixed effects model, even after removal from the meta-analysis of published data with deviations from Hardy-Weinberg equilibrium (HWE in controls (OR 1.26, 95% CI 1.02–1.55; p = 0.03, fixed effects model. Moreover, the pooled OR under the fixed effects model showed an increase in the maternal risk for the G allele (OR 1.14, 95% CI 1.01–1.30; p = 0.03. Present results suggest that the maternal RFC-1 80A>G polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype.

  19. IL28B Gene Polymorphism SNP rs8099917 Genotype GG Is Associated with HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) in HTLV-1 Carriers

    Science.gov (United States)

    Luiz, Olinda do Carmo; Malta, Fernanda; Pinho, João Renato Rebello; Gonçalves, Fernanda de Toledo; Duarte, Alberto Jose da Silva; de Oliveira, Augusto Cesar Penalva

    2014-01-01

    Background The polymorphisms of IL28B have been described as important in the pathogenesis of infections caused by some viruses. The aim of this research was to evaluate whether IL28B gene polymorphisms (SNP rs8099917 and SNP rs12979860) are associated with HAM/TSP. Methods The study included 229 subjects, classified according to their neurological status in two groups: Group I (136 asymptomatic HTLV-1 carriers) and Group II (93 HAM/TSP patients). The proviral loads were quantified, and the rs8099917 and rs12979860 SNPs in the region of IL28B-gene were analyzed by StepOnePlus Real-time PCR System. Results A multivariate model analysis, including gender, age, and HTLV-1 DNA proviral load, showed that IL28B polymorphisms were independently associated with HAM/TSP outcome in rs12979860 genotype CT (OR = 2.03; IC95% = 0.96–4.27) and in rs8099917 genotype GG (OR = 7.61; IC95% = 1.82–31.72). Conclusion Subjects with SNP rs8099917 genotype GG and rs12979618 genotype CT may present a distinct immune response against HTLV-1 infection. So, it seems reasonable to suggest that a search for IL28B polymorphisms should be performed for all HTLV-1-infected subjects in order to monitor their risk for disease development; however, since this is the first description of such finding in the literature, we should first replicate this study with more HTLV-1-infected persons to strengthen the evidence already provided by our results. PMID:25233462

  20. Reduced folate carrier-1 80G > A gene polymorphism is not associated with methotrexate treatment response in South Indian Tamils with rheumatoid arthritis.

    Science.gov (United States)

    Muralidharan, Niveditha; Mariaselvam, Christina Mary; Mithun, C B; Negi, Vir Singh

    2016-04-01

    Methotrexate (MTX) is the most commonly used disease-modifying drug to treat rheumatoid arthritis (RA). Although there are no reliable molecular markers to predict the treatment response and adverse effects to MTX therapy, the polymorphisms in genes coding for MTX metabolizing enzymes and transporters may play a crucial role. The reduced folate carrier-1 (RFC-1) is a bidirectional anion exchanger which transports MTX and folinic acid. It is reported to influence MTX treatment response and adverse effects in some ethnic populations but not in others. It is also associated with susceptibility to various diseases including systemic lupus erythematosus (SLE). The present study was aimed at investigating the role of RFC-1 80G > A gene polymorphism in association with disease susceptibility, MTX treatment response and the MTX-induced adverse events in the South Indian Tamil patients with rheumatoid arthritis. The RFC-1 80G > A gene polymorphism was investigated in 327 patients with RA and in 322 healthy controls by PCR-RFLP method. It was found that the heterozygous RFC-1 80 GA genotype was associated with protection against RA [p = 0.02, odds ratio (OR) 0.69, 95 % confidence interval (CI) 0.50-0.95]. However, it was not found to be associated with MTX treatment response. The RFC-1 G allele frequency was higher in patients with adverse effects, but the difference was not statistically significant (p = 0.08, OR 1.44, 95 % CI 0.97-2.13). RFC-1 80G > A gene polymorphism confers protection for RA. However, it is not associated with MTX treatment response and MTX-induced adverse effects in South Indian Tamil patients with RA.

  1. Localization and functional significance of a polymorphic determinant in the third component of human complement

    DEFF Research Database (Denmark)

    Behrendt, N; Hansen, O C; Ploug, M

    1987-01-01

    is situated with N-terminus at residue No. 202, using the numbering of the cDNA derived amino acid sequence of human prepro C3. Addition of Fab fragments from the alloselective antibody preferentially inhibited the activity of C3F+ in a haemolytic assay which is selective for the C3 activity...... with this antibody) and C3S- (non-reactive with the antibody), were purified. Deglycosylation studies and N-terminal sequencing of CNBr fragments, reactive with the antibody, revealed that the polymorphic epitope was present in a beta chain fragment of mol. wt 20,000. In the intact C3 molecule, this fragment......A polymorphic epitope in the third component of human complement was studied. This allotypic system is distinct from the electrophoretically determined C3 S/F polymorphism and is defined by the recognition of one allotype by a monoclonal antibody. Allotypic protein variants, C3F+ (reactive...

  2. Sequence length polymorphisms within primate amelogenin and amelogenin-like genes: usefulness in sex determination.

    Science.gov (United States)

    Morrill, Benson H; Rickords, Lee F; Schafstall, Heather J

    2008-10-01

    Sequence length polymorphisms between the amelogenin (AMELX) and the amelogenin-like (AMELY) genes both within and between several mammalian species have been identified and utilized for sex determination, species identification, and to elucidate evolutionary relationships. Sex determination via polymerase chain reaction (PCR) assays of the AMELX and AMELY genes has been successful in greater apes, prosimians, and two species of old world monkeys. To date, no sex determination PCR assay using AMELX and AMELY has been developed for new world monkeys. In this study, we present partial AMELX and AMELY sequences for five old world monkey species (Mandrillus sphinx, Macaca nemestrina, Macaca fuscata, Macaca mulatta, and Macaca fascicularis) along with primer sets that can be used for sex determination of these five species. In addition, we compare the sequences we generated with other primate AMELX and AMELY sequences available on GenBank and discuss sequence length polymorphisms and their usefulness in sex determination within primates. The mandrill and four species of macaque all share two similar deletion regions with each other, the human, and the chimpanzee in the region sequenced. These two deletion regions are 176-181 and 8 nucleotides in length. In analyzing existing primate sequences on GenBank, we also discovered that a separate six-nucleotide polymorphism located approximately 300 nucleotides upstream of the 177 nucleotide polymorphism in sequences of humans and chimps was also present in two species of new world monkeys (Saimiri boliviensis and Saimiri sciureus). We designed primers that incorporate this polymorphism, creating the first AMELX and AMELY PCR primer set that has been used successfully to generate two bands in a new world monkey species.

  3. Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

    Directory of Open Access Journals (Sweden)

    Ana Teresa P. Carvalho

    2014-01-01

    Full Text Available OBJECTIVES: Conflicting data from studies on the potential role of multidrug resistance 1 gene polymorphisms in inflammatory bowel disease may result from the analysis of genetically and geographically distinct populations. Here, we investigated whether multidrug resistance 1 gene polymorphisms are associated with inflammatory bowel diseases in patients from Rio de Janeiro. METHODS: We analyzed 123 Crohn's disease patients and 83 ulcerative colitis patients to determine the presence of the multidrug resistance 1 gene polymorphisms C1236T, G2677T and C3435T. In particular, the genotype frequencies of Crohn's disease and ulcerative colitis patients were analyzed. Genotype-phenotype associations with major clinical characteristics were established, and estimated risks were calculated for the mutations. RESULTS: No significant difference was observed in the genotype frequencies of the multidrug resistance 1 G2677T/A and C3435T polymorphisms between Crohn's disease and ulcerative colitis patients. In contrast, the C1236T polymorphism was significantly more common in Crohn's disease than in ulcerative colitis (p = 0.047. A significant association was also found between the multidrug resistance 1 C3435T polymorphism and the stricturing form of Crohn's disease (OR: 4.13; p = 0.009, whereas no association was found with penetrating behavior (OR: 0.33; p = 0.094. In Crohn's disease, a positive association was also found between the C3435T polymorphism and corticosteroid resistance/refractoriness (OR: 4.14; p = 0.010. However, no significant association was found between multidrug resistance 1 gene polymorphisms and UC subphenotypic categories. CONCLUSION: The multidrug resistance 1 gene polymorphism C3435T is associated with the stricturing phenotype and an inappropriate response to therapy in Crohn's disease. This association with Crohn's disease may support additional pathogenic roles for the multidrug resistance 1 gene in regulating gut

  4. Square Wave Voltammetry: An Alternative Technique to Determinate Piroxicam Release Profiles from Nanostructured Lipid Carriers.

    Science.gov (United States)

    Otarola, Jessica; Garrido, Mariano; Correa, N Mariano; Molina, Patricia G

    2016-08-04

    A new, simple, and fast electrochemical (EC) method has been developed to determine the release profile of piroxicam, a nonsteroidal anti-inflammatory drug, loaded in a drug delivery system based on nanostructured lipid carriers (NLCs). For the first time, the samples were analyzed by using square wave voltammetry, a sensitive EC technique. The piroxicam EC responses allow us to propose a model that explains the experimental results and to subsequently determine the amount of drug loaded into the NLCs formulation as a function of time. In vitro drug release studies showed prolonged drug release (up to 5 days), releasing 60 % of the incorporated drug. The proposed method is a promising and stable alternative for the study of different drug delivery systems.

  5. Is Increased Susceptibility to Balkan Endemic Nephropathy in Carriers of Common GSTA1 (*A/*B Polymorphism Linked with the Catalytic Role of GSTA1 in Ochratoxin A Biotransformation? Serbian Case Control Study and In Silico Analysis

    Directory of Open Access Journals (Sweden)

    Zorica Reljic

    2014-08-01

    Full Text Available Although recent data suggest aristolochic acid as a putative cause of Balkan endemic nephropathy (BEN, evidence also exists in favor of ochratoxin A (OTA exposure as risk factor for the disease. The potential role of xenobiotic metabolizing enzymes, such as the glutathione transferases (GSTs, in OTA biotransformation is based on OTA glutathione adducts (OTHQ-SG and OTB-SG in blood and urine of BEN patients. We aimed to analyze the association between common GSTA1, GSTM1, GSTT1, and GSTP1 polymorphisms and BEN susceptibility, and thereafter performed an in silico simulation of particular GST enzymes potentially involved in OTA transformations. GSTA1, GSTM1, GSTT1 and GSTP1 genotypes were determined in 207 BEN patients and 138 non-BEN healthy individuals from endemic regions by polymerase chain reaction (PCR. Molecular modeling in silico was performed for GSTA1 protein. Among the GST polymorphisms tested, only GSTA1 was significantly associated with a higher risk of BEN. Namely, carriers of the GSTA1*B gene variant, associated with lower transcriptional activation, were at a 1.6-fold higher BEN risk than those carrying the homozygous GSTA1*A/*A genotype (OR = 1.6; p = 0.037. In in silico modeling, we found four structures, two OTB-SG and two OTHQ-SG, bound in a GSTA1 monomer. We found that GSTA1 polymorphism was associated with increased risk of BEN, and suggested, according to the in silico simulation, that GSTA1-1 might be involved in catalyzing the formation of OTHQ-SG and OTB-SG conjugates.

  6. Capillary electrophoresis to determine entrapment efficiency of a nanostructured lipid carrier loaded with piroxicam

    Institute of Scientific and Technical Information of China (English)

    Jessica Otarola; Adriana Guillermina Lista; Beatriz Fernández Band; Mariano Garrido

    2015-01-01

    A simple and fast capillary electrophoresis method has been developed to determine the amount of piroxicam loaded in a drug delivery system based on nanostructured lipid carriers (NLCs). The entrapment efficiency of the nanostructured lipid carrier was estimated by measuring the concentration of drug not entrapped in a suspension of NLC. The influence of different parameters on migration times, peak symmetry, efficiency and resolution was studied; these parameters included the pH of the electrophoretic buffer solution and the applied voltage. The piroxicam peak was obtained with a satisfactory resolution. The separation was carried out using a running buffer composed of 50 mM ammonium acetate and 13.75 mM ammonia at pH 9. The optimal voltage was 20 kV and the cartridge temperature was 20 1C. The corresponding calibration curve was linear over the range of 2.7–5.4 mg/mL of NLC suspension. The reproducibility of migration time and peak area were investigated, and the obtained RSD% values (n ¼ 5) were 0.99 and 2.13, respectively.

  7. Capillary electrophoresis to determine entrapment efficiency of a nanostructured lipid carrier loaded with piroxicam

    Directory of Open Access Journals (Sweden)

    Jessica Otarola

    2015-02-01

    Full Text Available A simple and fast capillary electrophoresis method has been developed to determine the amount of piroxicam loaded in a drug delivery system based on nanostructured lipid carriers (NLCs. The entrapment efficiency of the nanostructured lipid carrier was estimated by measuring the concentration of drug not entrapped in a suspension of NLC. The influence of different parameters on migration times, peak symmetry, efficiency and resolution was studied; these parameters included the pH of the electrophoretic buffer solution and the applied voltage. The piroxicam peak was obtained with a satisfactory resolution. The separation was carried out using a running buffer composed of 50 mM ammonium acetate and 13.75 mM ammonia at pH 9. The optimal voltage was 20 kV and the cartridge temperature was 20 °C. The corresponding calibration curve was linear over the range of 2.7–5.4 µg/mL of NLC suspension. The reproducibility of migration time and peak area were investigated, and the obtained RSD% values (n=5 were 0.99 and 2.13, respectively.

  8. Plasma metabolomics reveal alterations of sphingo- and glycerophospholipid levels in non-diabetic carriers of the transcription factor 7-like 2 polymorphism rs7903146.

    Directory of Open Access Journals (Sweden)

    Cornelia Then

    Full Text Available AIMS/HYPOTHESIS: Polymorphisms in the transcription factor 7-like 2 (TCF7L2 gene have been shown to display a powerful association with type 2 diabetes. The aim of the present study was to evaluate metabolic alterations in carriers of a common TCF7L2 risk variant. METHODS: Seventeen non-diabetic subjects carrying the T risk allele at the rs7903146 TCF7L2 locus and 24 subjects carrying no risk allele were submitted to intravenous glucose tolerance test and euglycemic-hyperinsulinemic clamp. Plasma samples were analysed for concentrations of 163 metabolites through targeted mass spectrometry. RESULTS: TCF7L2 risk allele carriers had a reduced first-phase insulin response and normal insulin sensitivity. Under fasting conditions, carriers of TCF7L2 rs7903146 exhibited a non-significant increase of plasma sphingomyelins (SMs, phosphatidylcholines (PCs and lysophosphatidylcholines (lysoPCs species. A significant genotype effect was detected in response to challenge tests in 6 SMs (C16:0, C16:1, C18:0, C18:1, C24:0, C24:1, 5 hydroxy-SMs (C14:1, C16:1, C22:1, C22:2, C24:1, 4 lysoPCs (C14:0, C16:0, C16:1, C17:0, 3 diacyl-PCs (C28:1, C36:6, C40:4 and 4 long-chain acyl-alkyl-PCs (C40:2, C40:5, C44:5, C44:6. DISCUSSION: Plasma metabolomic profiling identified alterations of phospholipid metabolism in response to challenge tests in subjects with TCF7L2 rs7903146 genotype. This may reflect a genotype-mediated link to early metabolic abnormalities prior to the development of disturbed glucose tolerance.

  9. Intraspecific variability of Bipolaris sorokiniana isolates determined by random-amplified polymorphic DNA (RAPD).

    Science.gov (United States)

    de Oliveira, Andréia M R; Matsumura, Aida T S; Prestes, Ariano M; Van Der Sand, Sueli T

    2002-01-01

    Isolates of Bipolaris sorokiniana were analyzed by random-amplified polymorphic DNA (RAPD) techniques to determine the amount of intraspecific genetic variability and to study host-pathogen interactions. Ten isolates originated from different regions of Brazil were examined. Plants of the wheat cultivars BR8, BH1146 (original host) and IAC-5 Maringá, classified as resistant, moderately resistant or susceptible to B. sorokiniana, respectively, were inoculated with these 10 isolates. Twenty-seven isolates were recovered from these cultivars and were analyzed by RAPD assay and compared to the RAPD of the original 10 isolates. According to the RAPD profiles there was a high level of genetic variability among the isolates. We detected 69 polymorphic fragments, ranging from 1.6 to 0.54 kb, in the original 10 isolates; 57 fragments with sizes between 1.98 and 0.38 kb from the isolates recovered from BH1146; 47 polymorphic bands, ranging from 1.96-0.54 kb, were detected in the isolates from BR8 and 32 fragments between 1.98 and 0.42 kb in isolates were recovered from IAC-5 Maringá. The number of polymorphic fragments varied, even for the same isolate, when the isolates were recovered from different cultivar hosts.

  10. A method for determining the small-sample test length of carrier rocket

    Institute of Scientific and Technical Information of China (English)

    DUAN; Xiaojun(段晓君); WANG; Zhengming(王正明)

    2002-01-01

    To satisfy the demand of test evaluation of carrier rocket, the character of aerocraft and the primary flight error should be well considered. By making full use of tracking data and ground test data, a new method is provided to expand sample size through converting the system error of guidance instruments (SEGI) of special case into standard case. In terms of the prior distribution of the SEGI coefficients, a novel model, named Bayes spline model, is developed for precision evaluation, and its performance is analyzed subsequently. For a given threshold of precision,the test length can be determined by the posterior variance with the afore-mentioned model. Finally, it is proved by theoretical analysis and simulation that this method has clear engineering background and is able to fully exploit the test resources and enables us to draw a more reasonable conclusion.

  11. An Exploratory Study to Determine Whether BRCA1 and BRCA2 Mutation Carriers Have Higher Risk of Cardiac Toxicity

    Science.gov (United States)

    Sajjad, Monique; Fradley, Michael; Sun, Weihong; Kim, Jongphil; Zhao, Xiuhua; Pal, Tuya; Ismail-Khan, Roohi

    2017-01-01

    Anthracycline-based cardiotoxicity is concerning for women with breast cancer and portends a dose-dependent risk of developing left ventricular dysfunction. Overall, the prevalence of heart failure (HF) is ≈2% of the total US population; however, BRCA-deficient mice have shown increased HF. We evaluated for the inherent risk of HF in women with BRCA mutations to determine whether treatment with anthracycline-based therapy increased this risk. We obtained results on BRCA mutation carriers regarding cancer treatment and HF, identified through the BRCA patient advocacy organization Facing Our Risk for Cancer Empowered (FORCE) and the Moffitt-based Inherited Cancer Registry. In our patient group (232 BRCA1 and 159 BRCA2 patients; 10 with both mutations), 7.7% reported HF, with similar proportions in BRCA1 versus BRCA2 carriers (7.4% and 8.2%, respectively). These proportions are significantly higher than published rates (p BRCA1 carriers and 8.2% of BRCA2 carriers reported arrhythmias. BRCA mutation carriers showed increased risk of cardiotoxicity versus the general population and an overall increased risk of cardiotoxicity from anthracycline-based therapy. Our study supports data that BRCA carriers have increased non-cancer mortality from cardiotoxicity. A prospective trial to determine HF and conduction abnormalities in this population is warranted. PMID:28157161

  12. Multiplex genotype determination at a DNA sequence polymorphism cluster in the human immunoglobulin heavy-chain region

    Energy Technology Data Exchange (ETDEWEB)

    Li, H.; Hood, L. [California Institute of Technology, Pasadena, CA (United States)

    1995-03-20

    We have developed a method for multilocus genotype determination. The method involves using restriction fragment length polymorphisms (RFLPs) for allele discrimination. If a polymorphism is not an RFLP, it is converted into an RFLP during the polymerase chain reaction (PCR). After amplification and restriction enzyme digestion, samples are analyzed by sequential gel loading during electrophoresis. The efficiency of this method was demonstrated by determining the genotypes of 108 semen samples at seven DNA sequence polymorphic sites identified in the human immunoglobulin heavy-chain variable region. It was shown that more than 1000 PCR products could be easily analyzed per day per investigator. To show the reliability of this method, some of the typing results were confirmed by DNA sequence analysis. By computer simulation, most (98%) polymorphisms were shown to be natural or convertible (by changing 1 bp close to or next to each polymorphic site) RFLPs for the commercially available 4-base cutters. 47 refs., 4 figs., 3 tabs.

  13. Spatial location of indomethacin associated with unimeric amphiphilic carrier macromolecules as determined by nuclear magnetic resonance spectroscopy.

    Science.gov (United States)

    Orban, David E; Moretti, Alysha; Uhrich, Kathryn E

    2016-07-01

    A combination of nuclear magnetic resonance (NMR) techniques including, proton NMR, relaxation analysis, two-dimensional nuclear Overhauser effect spectroscopy, and diffusion-ordered spectroscopy, has been used to demonstrate the spatial location of indomethacin within a unimolecular micelle. Understanding the location of drugs within carrier molecules using such NMR techniques can facilitate rational carrier design. In addition, this information provides insight to encapsulation efficiency of different drugs to determine the most efficient system for a particular bioactive. This study demonstrates that drugs loaded by the unimolecular amphiphile under investigation are not necessarily encapsulated but reside or localize to the periphery or interfacial region of the carrier molecule. The results have further implications as to the features of the unimolecular carrier that contribute to drug loading. In addition, evidence of drug retention associated with the unimolecular surfactant is possible in organic media, as well as in an aqueous environment. Such findings have implications for rational carrier design to correlate the carrier features to the drug of interest and indicate the strong retention capabilities of the unimolecular micelle for delivery applications. Copyright © 2016 John Wiley & Sons, Ltd.

  14. Determination of Shear Deformation Potentials from the Free-Carrier Piezobirefringence in Germanium and Silicon

    DEFF Research Database (Denmark)

    Riskaer, Sven

    1966-01-01

    The present investigations of the free-carrier piezobirefringence phenomenon verify that in n-type germanium and silicon as well as in p-type silicon this effect can be ascribed to intraband transitions of the carriers. It is demonstrated how a combined investigation of the low-stress and high-st...

  15. Determine the optimal carrier selection for a logistics network based on multi-commodity reliability criterion

    Science.gov (United States)

    Lin, Yi-Kuei; Yeh, Cheng-Ta

    2013-05-01

    From the perspective of supply chain management, the selected carrier plays an important role in freight delivery. This article proposes a new criterion of multi-commodity reliability and optimises the carrier selection based on such a criterion for logistics networks with routes and nodes, over which multiple commodities are delivered. Carrier selection concerns the selection of exactly one carrier to deliver freight on each route. The capacity of each carrier has several available values associated with a probability distribution, since some of a carrier's capacity may be reserved for various orders. Therefore, the logistics network, given any carrier selection, is a multi-commodity multi-state logistics network. Multi-commodity reliability is defined as a probability that the logistics network can satisfy a customer's demand for various commodities, and is a performance indicator for freight delivery. To solve this problem, this study proposes an optimisation algorithm that integrates genetic algorithm, minimal paths and Recursive Sum of Disjoint Products. A practical example in which multi-sized LCD monitors are delivered from China to Germany is considered to illustrate the solution procedure.

  16. Determination of minority-carrier lifetime and surface recombination velocity with high spacial resolution

    Science.gov (United States)

    Watanabe, M.; Actor, G.; Gatos, H. C.

    1977-01-01

    Quantitative analysis of the electron beam induced current in conjunction with high-resolution scanning makes it possible to evaluate the minority-carrier lifetime three dimensionally in the bulk and the surface recombination velocity two dimensionally, with a high spacial resolution. The analysis is based on the concept of the effective excitation strength of the carriers which takes into consideration all possible recombination sources. Two-dimensional mapping of the surface recombination velocity of phosphorus-diffused silicon diodes is presented as well as a three-dimensional mapping of the changes in the minority-carrier lifetime in ion-implanted silicon.

  17. Application of photoconductivity decay and photocurrent generation methods for determination of minority carrier lifetime in silicon

    Indian Academy of Sciences (India)

    S N Singh; R Gandotra; P K Singh; B C Chakravarty

    2005-07-01

    Minority carrier lifeline, , is one of the most important parameters which has a decisive effect on the performance of silicon devices based on excess carriers. The value of is greatly affected by the presence of impurities and defects in silicon and its value provides a fair indication of quality of the material. Photoconductivity decay (PCD) and photocurrent generation (PCG) methods are simple and low cost methods of measurement of minority carrier lifetime in silicon wafers. However, their application requires care. The PCD method can give quite misleading results in case of polycrystalline wafers if there exists potential barriers at the grain boundaries which may affect majority carrier mobility significantly. PCG needs creation of an induced +––+ structure of substantially good quality that should not degrade with time. For PCG method the measurement under vacuum conditions provides correct and consistent results.

  18. Selective changes in expression of HLA class I polymorphic determinants in human solid tumors

    Energy Technology Data Exchange (ETDEWEB)

    Natali, P.G.; Nicotra, M.R.; Bigotti, A.; Venturo, I.; Giacomini, P. (Regina Elena Cancer Institute, Rome (Italy)); Marcenaro, L.; Russo, C. (Cornell Univ. Medical College, New York, NY (USA))

    1989-09-01

    Analysis of surgical biopsies with monoclonal antibodies (mAbs) to framework determinants of major histocompatibility complex class I antigens has shown that malignant transformation is frequently associated with a marked loss of these cell surface molecules. The present study sought to determine whether more selective losses of major histocompatibility complex class I expression occur. Multiple specimens from 13 different types of primary and metastatic tumors were tested utilizing mAb BB7.2, which recognizes a polymorphic HLA-A2 epitope. In each case, expression of HLA-A,B,C molecules was determined by testing with mAb W6/32 directed to a framework HLA class I determinant. The authors have found that in HLA-A2-positive patients, HLA-A2 products are not detectable or are reduced in their expression in 70-80% of endometrial, colorectal, mammary, and renal tumors; in 40-60% of soft-tissue, skin, ovary, urinary bladder, prostate, and stomach tumors; and in 25-30% of melanomas and lung carcinomas tested. All tumors expressed the framework HLA-A,B.C determinant. The HLA-A2 epitope recognized by mAb BB7.2 is located in a portion of the HLA-A2 molecule postulated to react with the T-cell receptor. The selective loss of an HLA class I polymorphic epitope shown in this study may explain the mechanism by which tumor cells escape both T-cell recognition and natural killer cell surveillance.

  19. Stealth carriers for low-resolution structure determination of membrane proteins in solution

    DEFF Research Database (Denmark)

    Maric, Selma; Skar-Gislinge, Nicholas; Midtgaard, Søren;

    2014-01-01

    Structural studies of membrane proteins remain a great experimental challenge. Functional reconstitution into artificial nanoscale bilayer disc carriers that mimic the native bilayer environment allows the handling of membrane proteins in solution. This enables the use of small-angle scattering...... techniques for fast and reliable structural analysis. The difficulty with this approach is that the carrier discs contribute to the measured scattering intensity in a highly nontrivial fashion, making subsequent data analysis challenging. Here, an elegant solution to circumvent the intrinsic complexity......O at the length scales relevant to SANS. These 'stealth' carrier discs may be used as a general platform for low-resolution structural studies of membrane proteins using well established data-analysis tools originally developed for soluble proteins. © 2014 International Union of Crystallography....

  20. DETERMINING TACTICAL OPERATIONAL PLANNING POLICIES FOR AN AUTO CARRIER – A CASE STUDY

    Directory of Open Access Journals (Sweden)

    A.J. Du Plessis

    2012-01-01

    Full Text Available

    ENGLISH ABSTRACT: This study was done to assist a local auto carrier company with tactical operational planning. The objective of the planning process is to maximise the number of vehicles delivered while being on time and adhering to staff and maintenance schedule constraints.

    We investigated the feasibility of allowing part of the fleet to roam the closed spatial network, as opposed to the traditional assignment of the complete fleet to fixed routes. We developed decision-making rules for roaming and fixed-to-route auto carriers, and evaluated the quality of these proposed rules, in combination with different fleet compositions, using discrete event simulation and four performance measures.

    We found that the auto carrier company should adopt a tactical operations policy where at least 50% of the fleet is allowed to roam, while roaming auto carriers pick vehicles to transport according to specific rules.

    AFRIKAANSE OPSOMMING: Hierdie studie is gedoen om ’n plaaslike motorvervoer-onderneming te help met taktiese bedryfsbeplanning. Die doelwit van die beplanningsproses is om die aantal voertuie wat betyds afgelewer word te maksimeer met inagneming van personeel- en instandhoudingbeperkings. Ons het die moontlikheid dat ’n deel van die vragmotorvloot swerwend in die geslote ruimtelike roete-network moet opereer, ondersoek. Dit is in teenstelling met die tradisionele vaste toedeling van vragmotors aan roetes. Besluitnemingreëls vir swerwende en vaste-roete vragmotors is ontwikkel, en die gehalte van die reëls is met diskrete simulasie en vier prestasiemaatstawwe evalueer.

    Ons het bevind dat die vervoeronderneming ’n bedryfsbeleid behoort te aanvaar wat toelaat dat ten minste 50% van die vloot swerf, terwyl hierdie swerwende vragmotors voertuie volgens spesifieke reëls by oplaaipunte moet kies.

  1. 'Hide-then-hit' to explain the importance of genotypic polymorphism of DNA repair genes in determining susceptibility to cancer

    Institute of Scientific and Technical Information of China (English)

    Pei-Ei Wu; Chen-Yang Shen

    2011-01-01

    Interindividual variations in DNA repair capacity/efficiency linked to the presence of polymorphisms in DNA repair-related genes have been suggested to account for different risk of developing cancers. In this review article, on the basis of breast cancer formation as a model, we propose a 'hide-then-hit' hypothesis indicating the importance of escaping checkpoint surveillance for sub-optimal DNA repair variants to cause cancer. Therefore, only cells with subtle defects in repair capacity arising from low-penetrance variants of DNA repair genes would have the opportunity to grow and accumulate the genetic changes needed for cancer formation, without triggering cell-cycle checkpoint surveillance. Furthermore, distinct from high-penetrance alleles, these polymorphic alleles of DNA repair genes would predispose carriers to a higher risk of developing cancer but would not necessarily cause cancer. To examine this,we simultaneously genotyped multiple SNPs of cell-cycle checkpoint genes and the DNA repair genes. Support for the hypothesis came from observations that breast cancer risk associated with variant genotypes of DNA repair genes became more significant in be confirmed by biological evidence in which a cause-effect relationship has to be established. However, based on this, possible gene-gene interaction is considered to play an important role in modifying the cancer risk associated with genotypic polymorphism of DNA repair gene in different study populations.

  2. Dmrt1 polymorphism covaries with sex-determination patterns in Rana temporaria.

    Science.gov (United States)

    Ma, Wen-Juan; Rodrigues, Nicolas; Sermier, Roberto; Brelsford, Alan; Perrin, Nicolas

    2016-08-01

    Patterns of sex-chromosome differentiation and gonadal development have been shown to vary among populations of Rana temporaria along a latitudinal transect in Sweden. Frogs from the northern-boreal population of Ammarnäs displayed well-differentiated X and Y haplotypes, early gonadal differentiation, and a perfect match between phenotypic and genotypic sex. In contrast, no differentiated Y haplotypes could be detected in the southern population of Tvedöra, where juveniles furthermore showed delayed gonadal differentiation. Here, we show that Dmrt1, a gene that plays a key role in sex determination and sexual development across all metazoans, displays significant sex differentiation in Tvedöra, with a Y-specific haplotype distinct from Ammarnäs. The differential segment is not only much shorter in Tvedöra than in Ammarnäs, it is also less differentiated and associates with both delayed gonadal differentiation and imperfect match between phenotypic and genotypic sex. Whereas Tvedöra juveniles with a local Y haplotype tend to ultimately develop as males, those without it may nevertheless become functional XX males, but with strongly female-biased progeny. Our findings suggest that the variance in patterns of sex determination documented in common frogs might result from a genetic polymorphism within a small genomic region that contains Dmrt1. They also substantiate the view that recurrent convergences of sex determination toward a limited set of chromosome pairs may result from the co-option of small genomic regions that harbor key genes from the sex-determination pathway.

  3. Cognitive Function in Adolescence: Testing for Interactions Between Breast-Feeding and "FADS2" Polymorphisms

    Science.gov (United States)

    Martin, Nicolas W.; Benyamin, Beben; Hansell, Narelle K.; Montgomery, Grant W.; Martin, Nicholas G.; Wright, Margaret J.; Bates, Timothy C.

    2011-01-01

    Objectives: Breast-fed C-allele carriers of the rs single nucleotide polymorphism in the fatty acyl desaturase 2 ("FADS2") gene have been reported to show a 6.4 to 7 IQ point advantage over formula-fed C-allele carriers, with no effect of breast-feeding in GG carriers. An Australian sample was examined to determine if an interaction between…

  4. FGFR4 genetic polymorphisms determine the chemotherapy response of Chinese patients with non-small cell lung cancer

    Institute of Scientific and Technical Information of China (English)

    Hong-mei FANG; Gang TIAN; Li-juan ZHOU; Han-ying ZHOU; Ying-zhi FANG

    2013-01-01

    Aim:To investigate the relationship of fibroblast growth factor receptor 4 (FGFR4) gene polymorphisms with the response of Chinese patients with non-small cell lung cancer (NSCLC) to chemotherapy.Methods:A total of 629 patients with Stage Ⅲ (A+B) or Ⅳ NSCLC,as well as 729 age-and gender-matched healthy controls were recruited.All the patients received platinum-based chemotherapy,and the therapeutic effects were evaluated.Three polymorphisms in the FGFR4 gene (rs351855G/A,rs145302848C/G,and rs147603016G/A) were genotyped,and the association between the 3 polymorphisms and the chemotherapy effect was analyzed using SPSS software,version 16.0.Results:The genotype frequencies of rs145302848C/G and rs147603016G/A were not significantly different between NSCLC patients and healthy controls on one hand,and between the responders and non-responders to the chemotherapy on the other hand.The distribution of AA genotype and A-allele of rs351855G/A was significantly lower in NSCLC patients than in healthy controls.Using patients with the GG genotype as a reference,the AA carrier had a significantly reduced risk for the development of NSCLC after normalizing to age,sex and smoking habits.In NSCLC patients,this genotype occurred more frequently in the responders to the chemotherapy than in non-responders.The chance of being a responder was significantly increased with the AA genotype as compared to G genotype.The AA genotype of rs351855G/A had a better prognosis compared with GA and GG genotype carriers:the over all survival of patients with the AA genotype of rs351855G/A was significantly longer than those with the GG+GA genotype (21.1 vs 16.5 months).Conclusion:The rs351855G/A polymorphisms of FGFR4 gene can be used to predict the occurrence,chemotherapy response and prognosis of NSCLC.

  5. Determinants for Clinical Events in Gallstone Carriers Unaware of their Gallstones

    DEFF Research Database (Denmark)

    Mønsted Shabanzadeh, Daniel; Tue Sørensen, Lars; Jørgensen, Torben

    2016-01-01

    , vocational training, and inversely association to a higher physical activity level when compared to being sedentary. Multiple adjusted models confirmed association for total events and body mass index and for complicated events and physical activity. No significant associations were identified for alcohol......, coffee, diet, smoking, or visits to general practitioner and clinical events. CONCLUSIONS: Body mass index, vocational training, and physical activity level were associated to clinical events in long-term follow-up of unaware gallstone carriers. Future trials should investigate clinical effects...... was median 17.5 years and 99.8% complete. Cox regression analyses were performed. RESULTS: Gallstone events occurred in 16.6% participants of whom 7.2% were complicated and 9.4% were uncomplicated. Total events were associated to body mass index. Complicated events were associated to coffee consumption...

  6. Genetic polymorphisms in catalase and CYP1B1 determine DNA adduct formation by benzo(a)pyrene ex vivo.

    Science.gov (United States)

    Schults, Marten A; Chiu, Roland K; Nagle, Peter W; Wilms, Lonneke C; Kleinjans, Jos C; van Schooten, Frederik J; Godschalk, Roger W

    2013-03-01

    Genetic polymorphisms can partially explain the large inter-individual variation in DNA adduct levels following exposure to polycyclic aromatic hydrocarbons. Effects of genetic polymorphisms on DNA adduct formation are difficult to assess in human studies because exposure misclassification attenuates underlying relationships. Conversely, ex vivo studies offer the advantage of controlled exposure settings, allowing the possibility to better elucidate genotype-phenotype relationships and gene-gene interactions. Therefore, we exposed lymphocytes of 168 non-smoking volunteers ex vivo to the environmental pollutant benzo(a)pyrene (BaP) and BaP-related DNA adducts were quantified. Thirty-four genetic polymorphisms were assessed in genes involved in carcinogen metabolism, oxidative stress and DNA repair. Polymorphisms in catalase (CAT, rs1001179) and cytochrome P450 1B1 (CYP1B1, rs1800440) were significantly associated with DNA adduct levels, especially when combined. Moreover, reverse transcription-polymerase chain reaction (RT-PCR) analysis in a subset of 30 subjects revealed that expression of catalase correlated strongly with expression of CYP1B1 (R = 0.92, P CYP1B1 and how they simultaneously affect BaP-related DNA adduct levels, catalase expression was transiently knocked down in the human lung epithelial cell line A549. Although catalase knockdown did not immediately change CYP1B1 gene expression, recovery of catalase expression 8 h after the knockdown coincided with a 2.2-fold increased expression of CYP1B1 (P polymorphism in the promoter region of CAT may determine the amount and activity of catalase, which may subsequently regulate the expression of CYP1B1. As a result, both genetic polymorphisms modulate DNA adduct levels in lymphocytes by BaP ex vivo.

  7. The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.

    Science.gov (United States)

    Wu, Dong; Hou, Qiaofang; Li, Tao; Chu, Yan; Guo, Qiannan; Kang, Bing; Liao, Shixiu

    2012-11-01

    Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of CVS. We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD. The fetal sex was confirmed by amniocentesis karyotype analysis and multiplex ligation-dependent probe amplification (MLPA) at 16 weeks. This procedure may avoid unnecessary CVS or amniocentesis of female fetuses.

  8. Diet-gene interactions between dietary fat intake and common polymorphisms in determining lipid metabolism

    Directory of Open Access Journals (Sweden)

    Corella, Dolores

    2009-03-01

    Full Text Available Current dietary guidelines for fat intake have not taken into consideration the possible genetic differences underlying the individual variability in responsiveness to dietary components. Genetic variability has been identified in humans for all the known lipid metabolim-related genes resulting in a plethora of candidate genes and genetic variants to examine in diet-gene interaction studies focused on fat consumption. Some examples of fat-gene interaction are reviewed. These include: the interaction between total intake and the 514C/T in the hepatic lipase gene promoter in determining high-density lipoprotein cholesterol (HDL-C metabolism; the interaction between polyunsaturated fatty acids (PUFA and the 75G/A polymorphism in the APOA1 gene plasma HDL-C concentrations; the interaction between PUFA and the L162V polymorphism in the PPARA gene in determining triglycerides and APOC3 concentrations; and the interaction between PUFA intake and the 1131TC in the APOA5 gene in determining triglyceride metabolism. Although hundreds of diet-gene interaction studies in lipid metabolism have been published, the level of evidence to make specific nutritional recommendations to the population is still low and more research in nutrigenetics has to be undertaken.Las recomendaciones dietéticas actuales referentes al consumo de grasas en la dieta han sido realizadas sin tener en cuenta las posibles diferencias genéticas de las personas que podrían ser las responsables de las diferentes respuestas interindividuales que frecuentemente se observan ante la misma dieta. La presencia de variabilidad genética ha sido puesta de manifiesto para todos los genes relacionados con el metabolismo lipídico, por lo que existe un ingente número de genes y de variantes genéticas para ser incluidas en los estudios sobre interacciones dieta-genotipo en el ámbito específico del consumo de grasas y aceites. Se revisarán algunos ejemplos sobre interacciones grasa

  9. Method for determination of (-102C>T single nucleotide polymorphism in the human manganese superoxide dismutase promoter

    Directory of Open Access Journals (Sweden)

    Martini Benjamin D

    2004-12-01

    Full Text Available Abstract Background Manganese superoxide dismutase (MnSOD plays a critical role in the detoxification of mitochondrial reactive oxygen species constituting a major cellular defense mechanism against agents that induce oxidative stress. The MnSOD promoter contains an activator protein-2 (AP-2 binding site that modifies transcription of MnSOD. Mutations have been identified in the proximal region of the promoter in human tumor cell lines. One of these mutations (-102C>T has been shown to change the binding pattern of AP-2 leading to a reduction in transcriptional activity. The aim of our study was to develop a method to identify and determine the frequency of this (-102C>T polymorphism in human tissues. Results A new TaqMan allelic discrimination genotype method was successfully applied to genomic DNA samples derived from blood, buccal swabs, snap frozen tissue and paraffin blocks. The polymorphism was shown to be in Hardy-Weinberg Equilibrium in an evaluation of 130 Caucasians from Warsaw, Poland: 44 (33.8% were heterozygous and 6 (4.6% were homozygous for -102T. Conclusion This report represents the first description of the MnSOD -102C>T polymorphism in human subjects by a novel Taqman allelic discrimination assay. This method should enable molecular epidemiological studies to evaluate possible associations of this polymorphism with malignancies and other diseases related to reactive oxygen species.

  10. Species determination within Staphylococcus genus by extended PCR-restriction fragment length polymorphism of saoC gene.

    Science.gov (United States)

    Bukowski, Michal; Polakowska, Klaudia; Ilczyszyn, Weronika M; Sitarska, Agnieszka; Nytko, Kinga; Kosecka, Maja; Miedzobrodzki, Jacek; Dubin, Adam; Wladyka, Benedykt

    2015-01-01

    Genetic methods based on PCR-restriction fragment length polymorphism (RFLP) are widely used for microbial species determination. In this study, we present the application of saoC gene as an effective tool for species determination and within-species diversity analysis for Staphylococcus genus. The unique sequence diversity of saoC allows us to apply four restriction enzymes to obtain RFLP patterns, which appear highly distinctive even among closely related species as well as atypical isolates of environmental origin. Such patterns were successfully obtained for 26 species belonging to Staphylococcus genus. What is more, tracing polymorphisms detected by different restriction enzymes allowed for basic phylogeny analysis for Staphylococcus aureus, which is potentially applicable for other staphylococcal species.

  11. Sequence Length Polymorphisms within Cervid AmelogeninX and AmelogeninY Genes: Use in Sex Determination

    Directory of Open Access Journals (Sweden)

    Benson H. Morrill

    2009-12-01

    Full Text Available Sequence length polymorphisms between the amelogeninX and amelogeninY genes have been utilized for the design of rapid PCR sex determination assays for various mammalian species, including four cervid species (Capreolus capreolus, Cervus elaphus, Cervus nippon, and Dama dama. Several of these assays have been shown to be able to determine sex from non-invasively collected samples such as hair roots, feces, or skeletal remains. Such assays can be helpful for both zoo and wildlife biologists for sex determination, and could possibly be further developed to aid in species identification and SNP analyses if sequence information is also available. In order to further study the amelogeninX and amelogeninY gene polymorphisms that exist within cervids, partial sequences from these genes were generated and analyzed in multiple amelogeninX and amelogeninY samples of mule deer (Odocoileus hemionus and Rocky Mountain elk (Cervus elaphus nelsoni; and single amelogeninX and amelogeninY samples of sika deer (Cervus nippon, fallow deer (Dama dama and axis deer (Axis axis. Within these five species, three sequence length polymorphism regions (two or more nucleotides inserted or deleted between samples were found. The lengths of these polymorphisms were 45, 9, and 9 nucleotides. In addition, a SNP was found in the amelogeninY sequences of the mule deer samples that were analyzed. Lastly, the primers used to amplify the regions of the amelogeninX and amelogeninY sequences were able to determine sex in all five species that were studied.

  12. Impaired glucagon-like peptide-1-induced insulin secretion in carriers of transcription factor 7-like 2 (TCF7L2) gene polymorphisms

    DEFF Research Database (Denmark)

    Schäfer, S A; Tschritter, O; Machicao, F;

    2007-01-01

    AIMS/HYPOTHESIS: Polymorphisms in the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes and reduced insulin secretion. The transcription factor TCF7L2 is an essential factor for glucagon-like peptide-1 (GLP-1) secretion from intestinal L cells. We studied whether a d...

  13. Glucose tolerance, insulin sensitivity and insulin release in European non-diabetic carriers of a polymorphism upstream of CDKN2A and CDKN2B

    DEFF Research Database (Denmark)

    Hribal, M L; Presta, I; Procopio, T

    2011-01-01

    The aim of this study was to investigate the association of the rs10811661 polymorphism near the CDKN2B/CDKN2A genes with glucose tolerance, insulin sensitivity and insulin release in three samples of white people with European ancestry....

  14. Increase in serum brain-derived neurotrophic factor in met allele carriers of the BDNF Val66Met polymorphism is specific to males.

    NARCIS (Netherlands)

    Bus, B.A.A.; Arias Vasquez, A.; Franke, B.; Prickaerts, J.; Graaf, J. de; Oude Voshaar, R.C.

    2012-01-01

    BACKGROUND: Association studies of the Val66Met polymorphism and serum brain-derived neurotrophic factor (BDNF) levels have yielded conflicting results. Recently, sex-specific differences in BDNF levels were demonstrated. As these might explain the reported inconsistencies, we tested sex interaction

  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

    ) binding in 57 healthy Scandinavians and related the outcome to season of the year and to the 5-HTTLPR carrier status. Results: We found that the number of daylight minutes at the time of scanning correlated negatively with 5-HTT binding in the putamen and the caudate, with a similar tendency...... in the thalamus, whereas this association was not observed for the midbrain. Furthermore, in the putamen, an anatomic region with relatively dense serotonin innervation, we found a significant gene X daylight effect, such that there was a negative correlation between 5-HTT binding and daylight minutes in carriers...

  16. Determination of the carrier concentration in CdSe crystals from the effective infrared absorption coefficient measured by means of the photothermal infrared radiometry

    Energy Technology Data Exchange (ETDEWEB)

    Pawlak, M. [Nicolaus Copernicus University, Faculty of Physics, Astronomy and Informatics, Institute of Physics, Torun (Poland)

    2014-11-11

    In this paper, a non-contact method that allows to determine the carrier concentration in CdSe crystals is presented. The method relies on the measurement of the effective infrared absorption coefficient by means of the photothermal infrared radiometry (PTR). In order to obtain the effective infrared absorption coefficient and thermal diffusivity, the frequency characteristics of the PTR signal were analyzed in the frame of a one-dimensional heat transport model for infrared semitransparent crystals. The carrier concentrations were estimated using a theory introduced by Ruda and a recently proposed normalization procedure for the PTR signal. The deduced carrier concentrations of the investigated CdSe crystals are in reasonable agreement with those obtained using Hall measurements and infrared spectroscopy. The method presented in this paper can also be applied to other semiconductors with the carrier concentration in the range of 10{sup 14}-10{sup 17} cm{sup -3}. (orig.)

  17. Direct Determination of Spatial Localization of Carriers in CdSe-CdS Quantum Dots

    Directory of Open Access Journals (Sweden)

    Yichen Zhao

    2015-01-01

    Full Text Available Colloidal quantum dots (QDs have gained significant attention due to their tunable band gap, simple solution processability, ease of scale-up, and low cost. By carefully choosing the materials, core-shell heterostructure QDs (HQDs can be further synthesized with a controlled spatial spread of wave functions of the excited electrons and holes for various applications. Many investigations have been done to understand the exciton dynamics by optical characterizations. However, these spectroscopic data demonstrate that the spatial separation of the excitons cannot distinguish the distribution of excited electrons and holes. In this work, we report a simple and direct method to determine the localized holes and delocalized electrons in HQDs. The quasi-type-II CdSe-CdS core-shell QDs were synthesized via a thermolysis method. Poly(3-hexylthiophene (P3HT nanofiber and ZnO nanorods were selected as hole and electron conductor materials, respectively, and were combined with HQDs to form two different nanocomposites. Photoelectrical properties were evaluated under different environments via a quick and facile characterization method, confirming that the electrons in the HQDs were freely accessible at the surface of the nanocrystal, while the holes were confined within the CdSe core.

  18. Macrolide resistance determinants among Streptococcus pneumoniae isolates from carriers in Central Greece

    Directory of Open Access Journals (Sweden)

    Grivea Ioanna N

    2012-10-01

    Full Text Available Abstract Background We sought to characterize the temporal trends in nasopharyngeal carriage of macrolide-resistant pneumococci during a period with increased heptavalent pneumococcal conjugate vaccine (PCV7 coverage in Central Greece. Methods Streptococcus pneumoniae isolates were recovered from 2649 nasopharyngeal samples obtained from day-care center attendees in Central Greece during 2005–2009. A phenotypic and genotypic analysis of the isolates was performed, including the identification of macrolide resistance genes mef(A, subclasses mef(A and mef(E, as well as erm(B. Results Of the 1105 typeable S. pneumoniae isolates, 265 (24% were macrolide-resistant; 22% in 2005, 33.3% in 2006, 23.7% in 2007, and 20.5% in 2009 (P=0.398. Among these macrolide-resistant pneumococci, 28.5% possessed erm(B, 24.3% erm(B+mef(E, 41.8% mef(E, and 5.3% mef(A. A mef gene as the sole resistance determinant was carried by 31% of macrolide-resistant isolates belonging to PCV7 serotypes and 75.8% of the non-PCV7 serotypes. Across the 4 annual surveillances, pneumococci carrying mef(A gradually disappeared, whereas serotype 19F isolates carrying both erm(B and mef(E persisted without significant yearly fluctuations. Among isolates belonging to non-PCV7 serotypes, macrolide-resistance was observed in those of serotypes 6A, 19A, 10A, 15A, 15B/C, 35F, 35A, and 24F. In 2009, ie 5 years after the introduction of PCV7 in our country, 59% of macrolide-resistant pneumococci belonged to non-PCV7 serotypes. Conclusions Across the study period, the annual frequency of macrolide-resistant isolates did not change significantly, but in 2009 a marked shift to non-PCV7 serotypes occurred. Overall, more than half of the macrolide-resistant isolates possessed erm(B either alone or in combination with mef(E. erm(B dominated among isolates belonging to PCV7 serotypes, but not among those of non-PCV7 serotypes.

  19. A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions.

    Science.gov (United States)

    Moffett, Alexander; Ross, Lainie Friedman

    2011-08-01

    We conducted an empirical pilot study to assess the attitudes of health care professionals (HCPs) to the personal identification of heterozygote carrier status for two autosomal recessive conditions (cystic fibrosis and a hemoglobinopathy) and for an X-linked disorder (Duchenne muscular dystrophy) using the Health Orientation Scale (HOS) and a modified HIV Stigma Scale. Attitudes towards carrier identification of children were also assessed. Three hundred and ten of 742 (42%) eligible HCPs fully or partly completed the survey. As measured with the HOS and the modified HIV scale, respondents had a more negative reaction to the hypothetical discovery of being a carrier for an autosomal recessive genetic condition that was less likely given their self-identified ancestry. Female respondents had a more negative reaction on both scales to being a carrier for an X-linked disorder than men thought their partners would feel. However, the differences found on the HOS and modified HIV scale are small and their clinical relevance unknown. Fifty-seven percent of respondents agreed that parents should tell their children to keep their carrier status private with many (44%) agreeing that children who learn that they are carriers may suffer from a decrease in self-esteem. The vast majority of respondents would inform immediate family members and HCPs of their carrier status, but would be unlikely to share this information with neighbors or employers. Further study is needed to develop a heterozygote genetic carrier stigma scale.

  20. Identification of Random Amplified Polymorphic DNA Markers Linked to Sex Determination in Calamus simplicifolius C. F. Wei

    Institute of Scientific and Technical Information of China (English)

    Hua YANG; Si-Ming GAN; Guang-Tian YIN; Huang-Can XU

    2005-01-01

    The random amplified polymorphic DNA (RAPD) molecular marker technique was used to determine the sex of Calamus simplicifolius C. F. Wei In the present study, DNA samples were extracted individually from 10 male and 10 female plants. After a total of 1 040 decamer primers had been tested, an approximate 500-bp male-specific DNA fragment was generated with the S1443 primer. It is feasible to identify sex at the early stages of plant life, which is beneficial for improving breeding programs of this dioecious species. In addition, we have obtained a proper RAPD protocol that is useful for other species of rattan.

  1. DAT1 polymorphism determines L-DOPA effects on learning about others' prosociality.

    Directory of Open Access Journals (Sweden)

    Christoph Eisenegger

    Full Text Available Despite that a wealth of evidence links striatal dopamine to individualś reward learning performance in non-social environments, the neurochemical underpinnings of such learning during social interaction are unknown. Here, we show that the administration of 300 mg of the dopamine precursor L-DOPA to 200 healthy male subjects influences learning about a partners' prosocial preferences in a novel social interaction task, which is akin to a repeated trust game. We found learning to be modulated by a well-established genetic marker of striatal dopamine levels, the 40-bp variable number tandem repeats polymorphism of the dopamine transporter (DAT1 polymorphism. In particular, we found that L-DOPA improves learning in 10/10R genoype subjects, who are assumed to have lower endogenous striatal dopamine levels and impairs learning in 9/10R genotype subjects, who are assumed to have higher endogenous dopamine levels. These findings provide first evidence for a critical role of dopamine in learning whether an interaction partner has a prosocial or a selfish personality. The applied pharmacogenetic approach may open doors to new ways of studying psychiatric disorders such as psychosis, which is characterized by distorted perceptions of others' prosocial attitudes.

  2. Determination of carrier concentration dependent electron effective mass and scattering time of n-ZnO thin film by terahertz time domain spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Tang, J.; Tay, C. B. [Electrical and Computer Engineering, National University of Singapore, Singapore 117576 (Singapore); NUSNNI-Nanocore, National University of Singapore, Singapore 117576 (Singapore); Deng, L. Y. [Electrical and Computer Engineering, National University of Singapore, Singapore 117576 (Singapore); Zhang, X. H.; Chai, J. W. [Institute of Materials and Research Engineering, Agency for Science, Technology and Research, 3 Research Link, Singapore 117602 (Singapore); Qin, H. [Department of Chemical and Bioengineering, National University of Singapore, Singapore 117542 (Singapore); Liu, H. W. [Department of Physics, National University of Singapore, Singapore 117542 (Singapore); Venkatesan, T. [NUSNNI-Nanocore, National University of Singapore, Singapore 117576 (Singapore); Chua, S. J., E-mail: elecsj@nus.edu.sg [Electrical and Computer Engineering, National University of Singapore, Singapore 117576 (Singapore); NUSNNI-Nanocore, National University of Singapore, Singapore 117576 (Singapore); Institute of Materials and Research Engineering, Agency for Science, Technology and Research, 3 Research Link, Singapore 117602 (Singapore)

    2014-01-21

    We demonstrated a novel and widely accessible method for determining the electron effective mass and scattering time of ZnO films with different carrier concentrations by combining terahertz time-domain spectroscopy with Hall measurement. The terahertz time domain spectroscopy (THz-TDS) transmission spectra (0.1–2THz) were well described by Drude model. It is found that electron effective mass varied from 0.23m{sub 0} to 0.26m{sub 0} as the electron concentration changes from 5.9 × 10{sup 17} cm{sup −3} to 4.0 × 10{sup 19} cm{sup −3}. The carrier concentration dependent characteristic is ascribed to the non-parabolicity of conduction band. Free carrier localization mechanism explained the discrepancy in mobilities obtained from THz-TDS and Hall measurements.

  3. Determination of paternity in dragonflies by Random Amplified Polymorphic DNA fingerprinting.

    Science.gov (United States)

    Hadrys, H; Schierwater, B; Dellaporta, S L; DeSalle, R; Buss, L W

    1993-04-01

    We used Random Amplified Polymorphic DNA (RAPD) fingerprinting to address issues of paternity in two odonate species. Amplification artifacts of RAPD markers were controlled by assessing paternity patterns relative to the banding patterns generated by quantitative mixtures of DNA from putative parents ('synthetic offspring'). In the aeshnid dragonfly Anax parthenope, for which the mating histories of both males and females were unknown, we found strong evidence for complete paternity success for the contact guarding male. In the highly polygamous libellulid dragonfly Orthetrum coerulescens, we detected and quantified mixed paternity in sequentially produced offspring clutches and demonstrated that fertilization success is correlated with the duration of copulation. Our results suggest that RAPD fingerprinting is suitable to address issues of paternity in systems which are genetically uncharacterized and produce large offspring clutches.

  4. Experimental Determination of Effective Minority Carrier Lifetime in HgCdTe Photovoltaic Detectors Using Optical and Electrical Methods

    Directory of Open Access Journals (Sweden)

    Haoyang Cui

    2015-01-01

    Full Text Available This paper presents experiment measurements of minority carrier lifetime using three different methods including modified open-circuit voltage decay (PIOCVD method, small parallel resistance (SPR method, and pulse recovery technique (PRT on pn junction photodiode of the HgCdTe photodetector array. The measurements are done at the temperature of operation near 77 K. A saturation constant background light and a small resistance paralleled with the photodiode are used to minimize the influence of the effect of junction capacitance and resistance on the minority carrier lifetime extraction in the PIOCVD and SPR measurements, respectively. The minority carrier lifetime obtained using the two methods is distributed from 18 to 407 ns and from 0.7 to 110 ns for the different Cd compositions. The minority carrier lifetime extracted from the traditional PRT measurement is found in the range of 4 to 20 ns for x=0.231–0.4186. From the results, it can be concluded that the minority carrier lifetime becomes longer with the increase of Cd composition and the pixels dimensional area.

  5. Genomic diversity amongst Vibrio isolates from different sources determined by fluorescent amplified fragment length polymorphism.

    Science.gov (United States)

    Thompson, F L; Hoste, B; Vandemeulebroecke, K; Swings, J

    2001-12-01

    The genomic diversity among 506 strains of the family Vibrionaceae was analysed using Fluorescent Amplified Fragments Length Polymorphisms (FAFLP). Isolates were from different sources (e.g. fish, mollusc, shrimp, rotifers, artemia, and their culture water) in different countries, mainly from the aquacultural environment. Clustering of the FAFLP band patterns resulted in 69 clusters. A majority of the actually known species of the family Vibrionaceae formed separate clusters. Certain species e.g. V. alginolyticus, V. cholerae, V. cincinnatiensis, V. diabolicus, V. diazotrophicus, V. harveyi, V. logei, V. natriegens, V. nereis, V. splendidus and V. tubiashii were found to be ubiquitous, whereas V. halioticoli, V. ichthyoenteri, V. pectenicida and V. wodanis appear to be exclusively associated with a particular host or geographical region. Three main categories of isolates could be distinguished: (1) isolates with genomes related (i.e. with > or =45% FAFLP pattern similarity) to one of the known type strains; (2) isolates clustering (> or =45% pattern similarity) with more than one type strain; (3) isolates with genomes unrelated (<45% pattern similarity) to any of the type strains. The latter group consisted of 236 isolates distributed in 31 clusters indicating that many culturable taxa of the Vibrionaceae remain as yet to be described.

  6. Determination of Residual Feed Intake and Its Associations with Single Nucleotide Polymorphism in Chickens

    Institute of Scientific and Technical Information of China (English)

    XU Zhen-qiang; CHEN Jie; ZHANG Yan; JI Cong-liang; ZHANG De-xiang; ZHANG Xi-quan

    2014-01-01

    Marker assisted selection (MAS) for residual feed intake (RFI) is considered to be one of the powerful means to improve feed conversion efifciency, and therefore reduce production costs. To test the inner relationship among body compositions, growth traits and RFI, four models were proposed to assess the extensively explanatory variables accounting for partial variables in feed intake besides metabolic body weight and growth rate. As a result, the original model (Koch’s model) had the lowest R2 (80.78%) and the highest Bayesian information criterion (1 323.3) value among the four models. Moreover, the effects on RFI caused by single nucleotide polymorphisms (SNPs) were assessed in this study. Twelve SNPs from 7 candidate genes were genotyped in 2 Chinese native strains. rs14743490 of RPLP2 gene showed suggestively signiifcant association with initial body weight in both strains (P<0.10). rs15047274 of TAF15 was signiifcantly associated with growth weight, ifnal weight, and feed intake (P<0.05) in N301 strain, in contrast, it was only suggestively signiifcant associated with feed intake (P<0.10) in N414 strain. rs15869967 was signiifcantly associated with RFI in N414 strain but not in N301 strain. This study has identiifed potential genetic markers suitable for MAS in improving the above mentioned traits, but these associations need to be rectiifed in other larger populations in future.

  7. A comprehensive experiment for molecular biology: Determination of single nucleotide polymorphism in human REV3 gene using PCR-RFLP.

    Science.gov (United States)

    Zhang, Xu; Shao, Meng; Gao, Lu; Zhao, Yuanyuan; Sun, Zixuan; Zhou, Liping; Yan, Yongmin; Shao, Qixiang; Xu, Wenrong; Qian, Hui

    2017-02-01

    Laboratory exercise is helpful for medical students to understand the basic principles of molecular biology and to learn about the practical applications of molecular biology. We have designed a lab course on molecular biology about the determination of single nucleotide polymorphism (SNP) in human REV3 gene, the product of which is a subunit of DNA polymerase ζ and SNPs in this gene are associated with altered susceptibility to cancer. This newly designed experiment is composed of three parts, including genomic DNA extraction, gene amplification by PCR, and genotyping by RFLP. By combining these activities, the students are not only able to learn a series of biotechniques in molecular biology, but also acquire the ability to link the learned knowledge with practical applications. This comprehensive experiment will help the medical students improve the conceptual understanding of SNP and the technical understanding of SNP detection. © 2017 by The International Union of Biochemistry and Molecular Biology, 2017.

  8. Power density, field intensity, and carrier frequency determinants of RF-energy-induced calcium-ion efflux from brain tissue

    Energy Technology Data Exchange (ETDEWEB)

    Joines, W.T.; Blackman, C.F.

    1980-01-01

    To explain a carrier frequency dependence reported for radiofrequency (RF)-induced calcium-ion efflux from brain tissue, a chick-brain hemisphere bathed in buffer solution is modeled as a sphere within the uniform field of the incident electromagnetic wave. Calculations on a spherical model show that the average electric-field intensity within the sample remains the same at different carrier frequencies if the incident power density (Pi) is adjusted by an amount that compensates for the change in complex permittivity (epsilon *r) and the change of wavelength, as a function of carrier frequency. The resulting formula for transforming Pi is seen to follow the pattern of both positive and negative demonstrations of calcium-ion efflux that have been observed at carrier frequencies of 50, 147, and 450 MHz. Indeed, all results obtained at these three frequencies, when related by Pi's that produce the same average electric-field intensity within the sample, are seen to be in agreement; no prediction is contradicted by an experiment.

  9. Temperature dependence of carrier spin polarization determined from current-induced domain wall motion in a Co/Ni nanowire

    Energy Technology Data Exchange (ETDEWEB)

    Ueda, K.; Koyama, T.; Hiramatsu, R.; Kobayashi, K.; Ono, T. [Institute for Chemical Research, Kyoto University, Gokasho, Uji, Kyoto 611-0011 (Japan); Chiba, D. [Institute for Chemical Research, Kyoto University, Gokasho, Uji, Kyoto 611-0011 (Japan); PRESTO, Japan Science and Technology Agency, 4-1-8 Honcho Kawaguchi, Saitama 322-0012 (Japan); Fukami, S. [Green Innovation Research Laboratories, NEC Corporation, 34 Miyukigaoka, Tsukuba, Ibaraki 305-8501 (Japan); Center for Spintronics Integrated Systems, Tohoku University, 2-1-1 Katahira, Aoba-ku, Sendai 980-8577 (Japan); Tanigawa, H.; Suzuki, T. [RENESAS Electronics Corporation, Sagamihara, Kanagawa 252-5298 (Japan); Ohshima, N. [NEC Energy Device Ltd., 1120 Shimokuzawa, Chuo-ku, Sagamihara, Kanagawa 252-5298 (Japan); Ishiwata, N. [Green Innovation Research Laboratories, NEC Corporation, 34 Miyukigaoka, Tsukuba, Ibaraki 305-8501 (Japan); Nakatani, Y. [University of Electro-communications, Chofu, Tokyo 182-8585 (Japan)

    2012-05-14

    We have investigated the temperature dependence of the current-induced magnetic domain wall (DW) motion in a perpendicularly magnetized Co/Ni nanowire at various temperatures and with various applied currents. The carrier spin polarization was estimated from the measured domain wall velocity. We found that it decreased more with increasing temperature from 100 K to 530 K than the saturation magnetization did.

  10. FEATURES OF THE CLINICAL SIGNIFICANCE OF POLYMORPHIC VARIANTS OF ENOS AND AGTR2 GENES IN PATIENTS WITH CAD

    Directory of Open Access Journals (Sweden)

    A. L. Khokhlov

    2016-01-01

    Full Text Available Coronary heart disease (CHD is a major cause of mortality. Morphological substrate of CHD in most cases is atherosclerosis, which is based on structural genes polymorphism eNOS and AGTR2. The aim of the study was to study the prevalence of eNOS and AGTR2 genes in patients with coronary artery disease and the association of these genes with coronary heart disease. The study involved 187 patients aged 36 to 86 years (62,2±11,2 with different forms of CHD: stable and unstable angina, myocardial infarction and 45 people without CHD. Determination of gene polymorphisms was performed by real-time PCR analyzer of nucleic acids IQ 5 Bio-Rad. Statistical analysis was performed using Statistica 10.0. The study revealed a significant difference between the incidence of homozygous AA allelic variant gene AGTR2 group of patients with myocardial infarction and the comparison group; polymorphic variant AA AGTR2 gene is associated with earlier onset of coronary artery disease; It found that carriers of the polymorphic variant gene GA AGTR2 beginning statistically CHD occurred significantly later than in carriers of alleles GG and AA; age CHD debut TT allele carriers of the eNOS gene is associated with an earlier onset of the disease and statistically significantly different from the age of first CHD in carriers of alleles of polymorphic variants of GG and GT; revealed a positive correlation between the polymorphic allele AGTR2 gene with the presence of arterial hypertension in patients with coronary artery disease; It determined that the T allele carriers of the polymorphic gene eNOS is associated more early onset of hypertension, found the association of the polymorphic allele gene AGTR2 the need to use higher doses of ACE inhibitor — perindopril.

  11. A new multiplex PCR strategy for the simultaneous determination of four genetic polymorphisms affecting HIV-1 disease progression

    DEFF Research Database (Denmark)

    Kristiansen, Thomas Birk; Knudsen, Troels Bygum; Ohlendorff, Stine Dahl

    2001-01-01

    The CCR5 Delta32, CCR2 64I, SDF1 3'A, and CCR5 promoter 59029 polymorphisms have been suggested to influence HIV-1 disease progression. Furthermore, the CCR5 Delta32 and the CCR2 64I polymorphisms have been associated with various other diseases. The purpose of the present study was to develop......, SDF1 3'A, and CCR5 promoter 59029 A/G polymorphisms....

  12. Solid-liquid phase diagrams for the determination of the solid state nature of both polymorphs of (RS)-2-(2-oxo-pyrrolidin-1-yl)-butyramide.

    Science.gov (United States)

    Herman, Christelle; Haut, Benoît; Aerts, Luc; Leyssens, Tom

    2012-11-01

    This work focuses on the determination of the solid state nature of (RS)-2-(2-oxo-pyrrolidin-1-yl)-butyramide (Etiracetam), the racemic intermediate of (S)-2-(2-oxo-pyrrolidin-1-yl)-butyramide, an Active Pharmaceutical Ingredient, marketed under the name Levetiracetam(®). It is show how this information can easily be extracted from solid-liquid phase diagrams of the racemic system. As two polymorphs of Etiracetam are known (Forms I and II), the analyses have been performed considering both polymorphs. The solid-liquid phase diagrams are determined experimentally, using Differential Scanning Calorimetry, and theoretically, using the Prigogine-Defay and Schroeder-Van Laar equations. Only the phase diagram involving the polymorph stable at higher temperatures (Form II) can be constructed experimentally. The theoretical phase diagram involving this polymorph compares well with the experimental one, thus allowing the use of theoretical equations for the prediction of the solid-liquid phase diagram involving Form I, which is meta-stable above 30.5 °C. Our findings confirm that both polymorphs are racemic compounds, which is also confirmed by XRPD analysis.

  13. Dielectric functions and carrier concentrations of Hg{sub 1−x}Cd{sub x}Se films determined by spectroscopic ellipsometry

    Energy Technology Data Exchange (ETDEWEB)

    Lee, A. J.; Peiris, F. C., E-mail: peirisf@kenyon.edu [Department of Physics, Kenyon College, Gambier, Ohio 43022 (United States); Brill, G.; Doyle, K. [U.S. Army Research Laboratory, Adelphi, Maryland 20783-1197 (United States); Myers, T. H. [Department of Physics, Texas State University, San Marcos, Texas 78666 (United States)

    2015-08-17

    Spectroscopic ellipsometry, ranging from 35 meV to 6 eV, was used to determine the dielectric functions of a series of molecular beam epitaxy-grown Hg{sub 1−x}Cd{sub x}Se thin films deposited on both ZnTe/Si(112) and GaSb(112) substrates. The fundamental band gap as well as two higher-order electronic transitions blue-shift with increasing Cd composition in Hg{sub 1−x}Cd{sub x}Se, as expected. Representing the free carrier absorption with a Drude oscillator, we found that the effective masses of Hg{sub 1−x}Cd{sub x}Se (grown on ZnTe/Si) vary between 0.028 and 0.050 times the free electron mass, calculated using the values of carrier concentration and the mobility obtained through Hall measurements. Using these effective masses, we determined the carrier concentrations of Hg{sub 1−x}Cd{sub x}Se samples grown on GaSb, which is of significance as films grown on such doped-substrates posit ambiguous results when measured by conventional Hall experiments. These models can serve as a basis for monitoring Cd-composition during sample growth through in-situ spectroscopic ellipsometry.

  14. Free-charge carrier parameters of n-type, p-type and compensated InN:Mg determined by Infrared Spectroscopic Ellipsometry

    CERN Document Server

    Schöche, S; Darakchieva, V; Wang, X; Yoshikawa, A; Wang, K; Araki, T; Nanishi, Y; Schubert, M

    2013-01-01

    Infrared spectroscopic ellipsometry is applied to investigate the free-charge carrier properties of Mg-doped InN films. Two representative sets of In-polar InN grown by molecular beam epitaxy with Mg concentrations ranging from $1.2\\times10^{17}$ cm$^{-3}$ to $8\\times10^{20}$ cm$^{-3}$ are compared. P-type conductivity is indicated for the Mg concentration range of $1\\times10^{18}$ cm$^{-3}$ to $9\\times10^{19}$ cm$^{-3}$ from a systematic investigation of the longitudinal optical phonon plasmon broadening and the mobility parameter in dependence of the Mg concentration. A parameterized model that accounts for the phonon-plasmon coupling is applied to determine the free-charge carrier concentration and mobility parameters in the doped bulk InN layer as well as the GaN template and undoped InN buffer layer for each sample. The free-charge carrier properties in the second sample set are consistent with the results determined in a comprehensive analysis of the first sample set reported earlier [Sch\\"oche et al., ...

  15. Association of an Osteopontin gene promoter polymorphism with susceptibility to diabetic nephropathy in Asian Indians

    DEFF Research Database (Denmark)

    Cheema, Balneek Singh; Iyengar, Sreenivasa; Ahluwalia, Tarun Veer Singh

    2012-01-01

    of genetic polymorphisms in OPN with diabetic nephropathy is lacking. Thus, the present study was designed with the aim to examine the association of an OPN gene promoter polymorphism with diabetic nephropathy in Asian Indians. OPN C-443T (rs11730582) polymorphism was determined in 1115 type 2 diabetic...... patients belonging to two independently ascertained cohorts using Real time PCR based Taqman assay. We observed a nearly threefold elevated risk of diabetic nephropathy among carriers of T allele and TT genotype of OPN C-443T polymorphism. Further, this allele was found to be significantly associated...... with proteinuria and lower eGFR, a hallmark of diabetic nephropathy, in both our cohorts. This is the first study which suggests that OPN C-443T polymorphism may be a significant risk factor for diabetic nephropathy in type 2 diabetic patients....

  16. Direct determination of single nucleotide polymorphism haplotype of NFKBIL1 promoter polymorphism by DNA conformation analysis and its application to association study of chronic inflammatory diseases.

    Science.gov (United States)

    Shibata, Hiroki; Yasunami, Michio; Obuchi, Nobuhisa; Takahashi, Megumi; Kobayashi, Yasushi; Numano, Fujio; Kimura, Akinori

    2006-01-01

    We previously revealed that one of the human leukocyte antigen-linked susceptibility genes for Takayasu's arteritis (TA) was mapped between TNFA and MICB loci and that -63T allele of NFKBIL1, which is between TNFA and MICB loci, was associated with rheumatoid arthritis (RA) in the Japanese population. We have developed a novel typing method based on reference strand-mediated conformation analysis for the upstream sequence of the NFKBIL1 gene, where -422 (T)8/(T)9, -325 C/G, -263 A/G, and -63 T/A polymorphisms were found. Upon the analysis of the patients with TA (n = 84), those with RA (n = 120), and healthy control subjects (n = 217), five common haplotypes named IKBLp*01 through IKBLp*05 were found in the Japanese population. The frequency of IKBLp*03 was significantly increased in the patient with TA (57.1% vs 35.0%, giving an odds ratio of 2.47). In addition, the frequency of IKBLp*01, but not that of other -63T-bearing alleles, was increased in the patients with RA (73.3% vs 58.1%, giving an odds ratio of 1.99), suggesting that the susceptibility to RA was conferred not by -63T alone but by combination of single nucleotide polymorphisms in the NFKBIL1 promoter. A higher promoter activity associated with IKBLp*03 and a lower activity associated with IKBLp*01 may contribute to the susceptibility to TA and RA, respectively.

  17. The Genetic Determinism of Biochemical Systems Polymorphous From the Blood Serum in Pigs

    Directory of Open Access Journals (Sweden)

    Nicoleta Işfan

    2010-05-01

    Full Text Available The study of genetic markers and identification of new markers make the subject of an increasing number of research projects in various fields such as genetics of immunology, biochemical genetics, molecular genetics, quantitative genetics and the genetic amelioration of animals. The information provided by electrophoresis graphs has been used to determine the frequency of various categories of alleles (for the loci of pre-albumin, transferines and serum amylases, the frequency of various phenotypes and the genetic structure for each and every locus and, simultaneously, for the loci being studied. The discussion over the varieties of serum proteins was carried on for the purpose of using them as genetic markers, in order to appreciate the levels of genetic unity or diversity within the stock of swine that has been studied. A pair of simple alleles has been determined for each of the three loci. When the three loci were studied simultaneously, out of the 27 possible combinations, only 15 have been found. The sample studied has found to be genetically balanced for every of the three loci. However, when the simultaneous study has been applied, the same sample has not been found genetically balanced.

  18. Differential combination of cytokine and interferon- γ +874 T/A polymorphisms determines disease severity in pulmonary tuberculosis.

    Directory of Open Access Journals (Sweden)

    Ambreen Ansari

    Full Text Available BACKGROUND: Mycobacterium tuberculosis infects nearly 1/3 of the world population and this reservoir forms the largest pool from which new cases arise. Among the cytokines, IFN-γ is a key determinant in protection against tuberculosis. Single nucleotide polymorphisms (SNPs in IFN-γ gene (+874 T/A which determine TT high ((hi, AA low ((lo and TA intermediate ((int responder phenotypes have shown variable associations with tuberculosis disease outcome in different ethnic populations. The objective of the current study was to analyze IFN-γ gene combinations with other IFN-γ regulating cytokine genes (IL-10, TNF -α, IL-6 to see the effect of gene- combinations on disease severity outcome in pulmonary tuberculosis. METHODS AND FINDINGS: Study groups comprised of pulmonary TB patients stratified according to lung tissue involvement into mild (Pmd = 74 or advance (Pad = 23 lung disease and compared with healthy controls (TBNA = 166. Genotype analysis was carried out using amplification refractory mutation system-PCR (ARMS-PCR. IFN-γ gene (+874 T/A functional SNP combinations in TNFα (-308 G/A, IL-10 (-1082 A/G and IL-6 (-174 G/C were analyzed. Single gene analysis (Pearson χ² showed a dominant association of IFN-γ TT (hi genotype (p = 0.001 and T allele (p = 0.001 with mild disease. IFN-γ(lo -IL-10(lo genotype combination was associated with advanced disease (p = 0.002. IFN-γ(hi -IL-6(hi combination was associated with mild disease (p = 0.0005 while IFN-γ(lo -IL-6(int was associated with protection against both forms of pulmonary disease (p = 0.002. CONCLUSION: Our results show that a limited number of IFN-γ gene combinations with other cytokine functional SNPs determine the outcome of disease severity in tuberculosis.

  19. Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?

    Science.gov (United States)

    Lakeman, Phillis; Plass, Anne Marie Catharina; Henneman, Lidewij; Bezemer, Pieter Dirk; Cornel, Martina Cornelia; ten Kate, Leo Pieter

    2009-01-01

    This paper explores determinants of the intention to participate or not and of actual participation in preconceptional ancestry-based carrier couple screening for cystic fibrosis (CF) and haemoglobinopathies (HbPs). In total, 9453 individuals from a multi-ethnic population were invited. Invitees who had a partner and who were planning a pregnancy were the target population (33–36%). Test participation was conditional on survey participation. Those who refrained from test participation were asked to participate in the survey only. The questionnaire was based on the Theory of Planned Behaviour, which explains behaviour through intention. It was completed by 418 survey participants: 171 who intended to participate in the testing, and 247 who refrained from test participation. Both test intenders and offer decliners generally had a positive attitude towards test participation, and perceived high behavioural control. This applied to Western and non-Western survey participants equally. Offer decliners, however, perceived less control in terms of the time and effort needed for participation. Still, 68% of them intended to participate in the future if the screening would be offered routinely. Test intenders more often would draw reproductive consequences from test results, perceived a higher risk of being a carrier, more benefits and less adverse psychological outcomes. Feelings of stigmatisation were not an important issue, but 14% thought that there would be discrimination against carriers: among them more were non-Western survey participants. Preconceptional ancestry-based CF and HbPs carrier screening was evaluated as positive and desirable among Western and non-Western survey participants. The effort and time needed for participation were important reasons for declining participation, which might be overcome by improving access to the screening. PMID:19223934

  20. Use of allele-specific FAIRE to determine functional regulatory polymorphism using large-scale genotyping arrays

    DEFF Research Database (Denmark)

    Smith, Frank Andrew; Howard, Philip; Shah, Sonia;

    2012-01-01

    identified an allele-specific regulatory polymorphism within NR1H3 (coding for LXR-α), rs7120118, coinciding with a previously GWAS-identified SNP for HDL-C levels. This finding was confirmed using FAIRE-gen with the 200,000 SNP Illumina Metabochip and verified with the established method of TaqMan allelic...... variants, we describe the technique of allele-specific FAIRE, utilising large-scale genotyping technology (FAIRE-gen) to determine allelic effects on chromatin accessibility and regulatory potential. FAIRE-gen was explored using lymphoblastoid cells and the 50,000 SNP Illumina CVD BeadChip. The technique...... discrimination. Examination of this SNP in two prospective Caucasian cohorts comprising 15,000 individuals confirmed the association with HDL-C levels (combined beta = 0.016; p = 0.0006), and analysis of gene expression identified an allelic association with LXR-α expression in heart tissue. Using increasingly...

  1. Val66Met BDNF Polymorphism Implies a Different Way to Recover From Stroke Rather Than a Worse Overall Recoverability.

    Science.gov (United States)

    Di Pino, Giovanni; Pellegrino, Giovanni; Capone, Fioravante; Assenza, Giovanni; Florio, Lucia; Falato, Emma; Lotti, Fiorenza; Di Lazzaro, Vincenzo

    2016-01-01

    In search for individualized predictors of stroke recovery, the Val66Met polymorphism of the brain-derived neurotrophic factor (BDNF) is attracting great interest, because it has a negative impact on neurotrophin function. Since stroke recovery relies on brain plastic processes, on which BDNF is permissive, the dominant thought is in favor of a worse recovery in Met carriers. Conversely, we suggest that Met carriers do not differ in terms of absolute ability to recover from stroke, but they do differ on the way they recover. In particular, Met carriers rely more on subcortical plasticity, while ValVal patients more on intracortical plastic processes. Indeed, the direct evidence of impaired Met carrier recovery is inconsistent, as a high worldwide diffusion of the polymorphism suggests. The plasticity taking place in cortex, which is the one targeted by noninvasive brain stimulation strategies aimed at enhancing recovery, is less pronounced in Met carrier stroke patients, who have instead spared global recovery potential. Enhanced subcortical plasticity sustains better stroke recovery of Met carrier mice: this may also happen in humans, explaining the weaker interhemispheric cortical excitability imbalance recently described in Met carriers. Thus, BDNF haplotype determines mechanisms and structures involved in stroke recovery. The less pronounced cortical plasticity of Met carrier implies that plastic changes induced by interventional neurophysiological protocols would be better predictors of ValVal chronic outcome and those protocols would be more effective to boost their recovery. Other strategies, more focused on subcortical mechanisms, should be used in Met carriers.

  2. Determination of Ultralow Level 129I/127I in Natural Samples by Separation of Microgram Carrier Free Iodine and Accelerator Mass Spectrometry Detection

    DEFF Research Database (Denmark)

    Hou, Xiaolin; Zhou, Weijian; Chen, Ning;

    2010-01-01

    a carrier free method using coprecipitation of AgI with AgCl for preparing micrograms of iodine target, associated with combustion using a tube furnace for separating iodine from solid samples and anion exchange chromatography for preconcentrating iodine from a large volume of water. An accelerator mass...... of 129I/127I, and a detection limit of this method for 129I is calculated to be 105 atoms. This will allow us to accurately determine 129I in prenuclear geological samples of low iodine concentration with 129I/127I of 10−12, such as loess, soil, coral, rock, sediment, and groundwater. Some samples...

  3. Reduced folate carrier: biochemistry and molecular biology of the normal and methotrexate-resistant cell.

    Science.gov (United States)

    Bosson, Geoffrey

    2003-01-01

    The cytotoxic drug methotrexate uses the reduced folate carrier for transport into the cell, where it inhibits key enzymes in nucleotide biosynthesis. Resistance to methotrexate can be achieved by altering the genetic code of the reduced folate carrier gene and thus change the structure and function of the protein. Our understanding of RFC structure and function is based on the information gained from studying the uptake of folates and antifolates in living cells and the application of molecular techniques to determine gene expression and genetic mutations. The aim of this essay is to explain the structure and function of the reduced folate carrier, review the molecular biology of the reduced folate carrier gene and the mutations and polymorphisms that can result in methotrexate resistance.

  4. Low-cost carriers fare competition effect

    NARCIS (Netherlands)

    Carmona Benitez, R.B.; Lodewijks, G.

    2010-01-01

    This paper examines the effects that low-cost carriers (LCC’s) produce when entering new routes operated only by full-service carriers (FSC’s) and routes operated by low-cost carriers in competition with full-service carriers. A mathematical model has been developed to determine what routes should b

  5. Aircraft Carriers

    DEFF Research Database (Denmark)

    Nødskov, Kim; Kværnø, Ole

    in Asia and will balance the carrier acquisitions of the United States, the United Kingdom, Russia and India. China’s current military strategy is predominantly defensive, its offensive elements being mainly focused on Taiwan. If China decides to acquire a large carrier with offensive capabilities......, then the country will also acquire the capability to project military power into the region beyond Taiwan, which it does not possess today. In this way, China will have the military capability to permit a change of strategy from the mainly defensive, mainland, Taiwan-based strategy to a more assertive strategy...... catapult with which to launch the fi ghter aircraft, not to mention the possible development of a nuclear power plant for the ship. The Russian press has indicated that China is negotiating to buy SU-33 fi ghters, which Russia uses on the Kuznetsov carrier. The SU-33 is, in its modernized version...

  6. Association of sweet taste receptor gene polymorphisms with dental caries experience in school children.

    Science.gov (United States)

    Haznedaroğlu, Eda; Koldemir-Gündüz, Meliha; Bakır-Coşkun, Nur; Bozkuş, Hasan M; Çağatay, Penbe; Süsleyici-Duman, Belgin; Menteş, Ali

    2015-01-01

    Sweet taste is a powerful factor influencing food acceptance. The peripheral taste response to sugar is mediated by the TAS1R2/TAS1R3 taste receptors. The aim of the study was to determine the relationship between TAS1R2 (rs35874116 or rs9701796) and/or TAS1R3 (rs307355) single nucleotide polymorphisms with dental caries experience in schoolchildren. A total of 184 schoolchildren aged between 7 and 12 years (101 girls, 83 boys) were included in the study. Genomic DNA was extracted from saliva samples and the genotypes were identified by qPCR. The genotype frequencies were as follows: 6.6% for homozygous wild type, 41.8% for heterozygous and 51.6% for homozygous polymorphic genotype carriers of TAS1R2 gene rs35874116; 27.8% for heterozygous and 72.2% for homozygous polymorphic genotype carriers of TAS1R2 gene rs9701796, and 83.1% for homozygous wild type and 16.9% for heterozygous genotype carriers of TAS1R3 gene rs307355 polymorphism. A significant association was observed between total caries experience (dft + DMFT - decayed filled primary teeth + decayed, missing and filled permanent teeth) and TAS1R2 rs35874116 (p = 0.008) and TAS1R3 rs307355 (p = 0.04) gene polymorphisms but not for TAS1R2 gene rs9701796 polymorphism. TAS1R3 gene rs307355 polymorphism has been found to be an independent risk factor for dental caries experience by logistic regression analysis and to have increased the risk of caries. Moderate caries experience (4-7 caries) was found to be associated with TAS1R3 rs307355 heterozygous genotype, whereas high-risk caries experience (>8 caries) was found to be associated with TAS1R2 rs35874116 homozygous polymorphic genotype.

  7. Concentration and mobility of charge carriers in thin polymers at high temperature determined by electrode polarization modeling

    Science.gov (United States)

    Diaham, Sombel; Locatelli, Marie-Laure

    2012-07-01

    Charge carrier concentration (n0) and effective mobility (μeff) are reported in two polymer films (dielectric spectroscopy data. It is shown that the glass transition temperature (Tg) occurrence has a strong influence on the temperature dependence of n0 and μeff. We carry out that n0 presents two distinct Arrhenius-like behaviors below and above Tg, while μeff exhibits a Vogel-Fulcher-Tamman behavior only above Tg whatever the polymer under study. For polyimide films, n0 varies from 1 × 1014 to 4 × 1016 cm-3 and μeff from 1 × 10-8 to 2 × 10-6 cm2 V-1 s-1 between 200 °C to 400 °C. Poly(amide-imide) films show n0 values between 6 × 1016 and 4 × 1018 cm-3 from 270 °C to 400 °C, while μeff varies between 1 × 10-10 and 2 × 10-7 cm2 V-1 s-1. Considering the activation energies of these physical parameters in the temperature range of investigation, n0 and μeff values appear as coherent with those reported in the literature at lower temperature (Polyimide films appear as good candidates due to nS values less than 1011 cm-2 up to 300 °C.

  8. Polymorphisms at Cytokine Genes May Determine the Effect of Vitamin E on Cytokine Production in the Elderly1–3

    Science.gov (United States)

    Belisle, Sarah E.; Leka, Lynette S.; Delgado-Lista, Javier; Jacques, Paul F.; Ordovas, Jose M.; Meydani, Simin Nikbin

    2009-01-01

    Vitamin E has been shown to affect cytokine production. However, individual response to vitamin E supplementation varies. Previous studies indicate that cytokine production is heritable and common single nucleotide polymorphisms (SNP) may explain differences in cytokine production between individuals. We hypothesize that the differential response to the immunomodulatory actions of vitamin E reflects genetic differences among individuals, including SNP at cytokine genes that modulate cytokine production. We used data from a double-blind, placebo-controlled 1-y vitamin E (182 mg d,l-α-tocopherol) intervention study in elderly men and women (mean age 83 y) to test this hypothesis (vitamin E, n = 47; placebo, n = 63). We found that the effect of vitamin E on tumor necrosis factor (TNF)-α production in whole blood stimulated for 24 h with lipopolysaccharide (1.0 mg/L) is dependent on TNFα -308G > A. Participants with the A/A and A/G genotypes at TNFα -308G > A who were treated with vitamin E had lower TNFα production than those with the A allele treated with placebo. These observations suggest that individual immune responses to vitamin E supplementation are in part mediated by genetic factors. Because the A allele at TNFα has been previously associated with higher TNFα levels in whole blood and isolated immune cells, our observations suggest that the antiinflammatory effect of vitamin E is specific to those genetically predisposed to higher inflammation. Further studies are needed to determine the biological mechanism driving the interaction between vitamin E treatment and TNFα -308G > A and its implications for disease resistance. PMID:19710156

  9. APOA2 Polymorphism in Relation to Obesity and Lipid Metabolism

    Directory of Open Access Journals (Sweden)

    Moushira Erfan Zaki

    2013-01-01

    Full Text Available Objectives. This study aims to analysis the relationship between c.-492T>C polymorphism in APOA2 gene and the risk for obesity in a sample of Egyptian adolescents and investigates its effect on body fat distribution and lipid metabolism. Material and Methods. A descriptive, cross-sectional study was conducted on 303 adolescents. They were 196 obese and 107 nonobese, aged 16–19 years old. Variables examined included body mass index (BMI, waist circumference (WC, waist to hip ratio (WHR, systolic and diastolic blood pressure (BP, body fat percentage (BF%, abdominal visceral fat layer, and dietary intake. Abdominal visceral fat thickness was determined by ultrasonography. The polymorphism in the APOA2 c.-492T>C was analyzed by PCR amplification. Results. Genotype frequencies were in Hardy-Weinberg equilibrium. The frequency of the mutant C allele was significantly higher in obese cases compared to nonobese. After multivariate adjustment, waist, BF% and visceral adipose layer, food consumption, and HDL-C were significantly higher in homozygous allele CC carriers than TT+TC carriers. Conclusions. Homozygous individuals for the C allele had higher obesity risk than carriers of the T allele and had elevated levels of visceral adipose tissue and serum HDL-C. Moreover, the study shows association between the APOA2 c.-492T>C polymorphism and food consumption.

  10. Sex Determination from Fragmented and Degenerated DNA by Amplified Product-Length Polymorphism Bidirectional SNP Analysis of Amelogenin and SRY Genes.

    Science.gov (United States)

    Masuyama, Kotoka; Shojo, Hideki; Nakanishi, Hiroaki; Inokuchi, Shota; Adachi, Noboru

    2017-01-01

    Sex determination is important in archeology and anthropology for the study of past societies, cultures, and human activities. Sex determination is also one of the most important components of individual identification in criminal investigations. We developed a new method of sex determination by detecting a single-nucleotide polymorphism in the amelogenin gene using amplified product-length polymorphisms in combination with sex-determining region Y analysis. We particularly focused on the most common types of postmortem DNA damage in ancient and forensic samples: fragmentation and nucleotide modification resulting from deamination. Amplicon size was designed to be less than 60 bp to make the method more useful for analyzing degraded DNA samples. All DNA samples collected from eight Japanese individuals (four male, four female) were evaluated correctly using our method. The detection limit for accurate sex determination was determined to be 20 pg of DNA. We compared our new method with commercial short tandem repeat analysis kits using DNA samples artificially fragmented by ultraviolet irradiation. Our novel method was the most robust for highly fragmented DNA samples. To deal with allelic dropout resulting from deamination, we adopted "bidirectional analysis," which analyzed samples from both sense and antisense strands. This new method was applied to 14 Jomon individuals (3500-year-old bone samples) whose sex had been identified morphologically. We could correctly identify the sex of 11 out of 14 individuals. These results show that our method is reliable for the sex determination of highly degenerated samples.

  11. Determination of the effects of alcohol dehydrogenase (ADH) 1B and ADH1C polymorphisms on alcohol dependence in Turkey.

    Science.gov (United States)

    Aktas, Ekin Ozgur; Kocak, Aytaç; Senol, Ender; Celik, Handan Ak; Coskunol, Hakan; Berdeli, Afig; Aydin, Hikmet Hakan

    2012-03-01

    Alcoholism is a complex genetically influenced disorder which refers to alcohol abuse and alcohol dependence. There are controversial results on the role of gene polymorphisms in alcohol dependence in the literature. Differences in population groups and selective inclusion criteria for alcohol dependence may affect results. In this study, we investigated the role of ADH1B Arg48His (rs1229984) and, ADH1C Ile350Val (rs698) gene polymorphisms in Turkish population. 100 healthy volunteers and 75 patients who were admitted to Ege University Alcohol Dependence Unit enrolled in the study. We found significant increase both in ADH1B (Arg48His) polymorphism Arg allele and Arg/Arg genotype frequency in patients. No profound connection between alcohol dependence and ADH1C Ile350Val gene polymorphism was detected. Alcohol dependence is an important health problem that depends on many genetic and environmental factors but we think that it is possible to interpret genetic risk for developing early diagnostic methods and treatment strategies by comprehensive linkage and association studies.

  12. Pharmacogenetic determinants of beta-fibrinogen gene polymorphism in response to aspirin in patients with severe ischemic stroke

    Directory of Open Access Journals (Sweden)

    Kiking Ritarwan

    2014-12-01

    Conclusion: Plasma fibrinogen levels decreased after administration of either aspirin or polymorphisms according to age. Identification of stroke risk factors based on the relative risk of plasma fibrinogen levels are at higher degree in younger age. [J Exp Integr Med 2014; 4(4.000: 237-240

  13. The determination of Q192R polymorphism of paraoxonase 1 by using non-toxic substrate p-nitrophenylacetate

    Directory of Open Access Journals (Sweden)

    M R Mogarekar

    2013-01-01

    Conclusion: The Q192R polymorphism of PON1 by using non-toxic substrate p-nitrophenylacetate showed trimodal distribution of QQ (homozygous, QR (heterozygous, and RR (homozygous phenotype and it is comparable with reference method. This method can be used for PON1 phenotype in different pathological and complex disease conditions.

  14. Direct determination of MUC5B promoter haplotypes based on the method of single-strand conformation polymorphism and their statistical estimation.

    Science.gov (United States)

    Kamio, Koichiro; Matsushita, Ikumi; Tanaka, Goh; Ohashi, Jun; Hijikata, Minako; Nakata, Koh; Tokunaga, Katsushi; Azuma, Arata; Kudoh, Shoji; Keicho, Naoto

    2004-09-01

    Haplotype-based human genome research is important in identifying disease susceptibility genes efficiently. Although haplotype reconstruction by statistical methods is widely used, direct haplotype determination by molecular techniques has also been developed as a complementary method for statistical estimation. In this study, we demonstrate a molecular haplotyping method making use of single-strand conformation polymorphism (SSCP) gels. We identified 10 common SNPs and a dinucleotide insertion/deletion polymorphism within 2-kb region upstream of the transcription initiation site of MUC5B and determined haplotype structure, dividing the region into two DNA fragments. Real haplotypes were determined unambiguously by our SSCP-based analysis with fragments longer than 1 kb. Haplotypes reconstructed from diploid genotypes in the same region by the statistical methods including EM algorithm were also evaluated. Direct comparison between statistical estimation and direct determination of haplotypes revealed that major haplotypes containing multiple marker sites showing strong LD are estimated in great accuracy but that a variety of haplotypes reflecting weak LD are not reconstructed precisely enough. Our data can be helpful in implementing molecular haplotyping or statistical estimation, since usage of these methods may be determined depending on the haplotype structures.

  15. Development of new polymorphic microsatellite markers in topmouth culter (Culter alburnus) and determination of their applicability in Culter mongolicus.

    Science.gov (United States)

    Qi, P-Z; Xie, C-X; Guo, B-Y; Wu, C-W; Lu, S-M; Duan, Y-J

    2013-05-21

    Fifteen new polymorphic microsatellite markers were developed for Culter alburnus. In 32 individuals representing a wild population of the Danjiangkou Reservoir, Hubei, China, the number of alleles at these loci varied between 2 and 10, with an average of 5.5. The average observed and expected heterozygosities were 0.664 and 0.681, respectively. The polymorphism information content of 11 loci was more than 0.5 whereas that of the other 4 loci was less than 0.5 but more than 0.25. In addition, the genomes of 30 C. mongolicus individuals were successfully amplified with these primer pairs, indicating that the primer pairs were applicable for the related species, C. mongolicus.

  16. Polymorphisms in the fatty acid desaturase genes and diet are important determinants of infant docosahexaenoic acid status

    DEFF Research Database (Denmark)

    Lauritzen, L.; Harsløf, L.; Larsen, L.H.;

    2013-01-01

    Tissue docosahexaenoic acid (DHA) accretion in early infancy is supported by DHA in breast-milk and may thus decrease once complementary feeding takes over. Endogenous synthesis of DHA from alphalinolenic acid is low and polymorphisms in the genes that encodes the fatty acid desaturases (FADS) has...... been shown to have little effect on DHA-status in adults. It is unclear to what extent endogenous DHA-synthesis contributes to infant DHAstatus. We aim to investigate the role of diet and FADS-polymorphisms on DHA-status at 9 months and 3 years. Methods: This cross-sectional study with Danish infants...... use data from two prospective studies (EFiON and the SKOTcohort). We measured erythrocyte (RBC) DHA-status at 9 months (n=409) and 3 years (n=176) and genotyped 4 FADS tagSNPs, rs3834458, rs1535, rs174575 and rs174448 (n=401)....

  17. Molecular Identification and Polymorphism Determination of Cutaneous and Visceral Leishmaniasis Agents Isolated from Human and Animal Hosts in Iran

    Directory of Open Access Journals (Sweden)

    Homa Hajjaran

    2013-01-01

    Full Text Available Amplification of internal transcript spacer 1 of ribosomal RNA (ITS1-RNA gene followed by RFLP analysis and sequencing was used to identify the causing agents of cutaneous and visceral leishmaniasis (CL and VL in humans and animal reservoir hosts from various geographical areas in Iran. We also used random amplified polymorphic DNA (RAPD-PCR to obtain polymorphisms among isolates of Leishmania spp. Totally, 362 suspected human and animal cases including 173 CL, 49 VL, 60 rodents, and 80 domestic dogs were examined for Leishmania infection. From 112 culture-positive samples prepared from CL cases, 75 (67% were infected with L. major and 37 (33% with L. tropica. Of the 60 rodents examined, 25 (41.6% harbored the Leishmania infection; 21 were infected with L. major and 4 with L. turanica. From 49 suspected VL, 29 were positive by direct agglutination test (DAT, whereas microscopy detected parasite in bone marrow of 25 and culture in 28 of the patients. Two VL patients were infected with L. tropica and 26 with L. infantum. Of the 80 domestic dogs, 56 showed anti-Leishmania antibodies with DAT. Of these, 55 were positive by both microscopy and culture. Molecular identity, obtained only for 47 samples, revealed L. infantum in 43 and L. tropica in 4 dogs. The polymorphisms among L. tropica and L. major isolates were 3.6% and 7.3%; the rate among human and canine VL isolates was 2.8% and 9.8%, respectively. Our results showed that at least four different Leishmania species with various polymorphisms circulate among humans and animal hosts in Iran.

  18. Disposable Amperometric Immunosensor for the Determination of Human P53 Protein in Cell Lysates Using Magnetic Micro-Carriers

    Science.gov (United States)

    Pedrero, María; Manuel de Villena, F. Javier; Muñoz-San Martín, Cristina; Campuzano, Susana; Garranzo-Asensio, María; Barderas, Rodrigo; Pingarrón, José M.

    2016-01-01

    An amperometric magnetoimmunosensor for the determination of human p53 protein is described in this work using a sandwich configuration involving the covalent immobilization of a specific capture antibody onto activated carboxylic-modified magnetic beads (HOOC-MBs) and incubation of the modified MBs with a mixture of the target protein and horseradish peroxidase-labeled antibody (HRP-anti-p53). The resulting modified MBs are captured by a magnet placed under the surface of a disposable carbon screen-printed electrode (SPCE) and the amperometric responses are measured at −0.20 V (vs. an Ag pseudo-reference electrode), upon addition of hydroquinone (HQ) as a redox mediator and H2O2 as the enzyme substrate. The magnetoimmunosensing platform was successfully applied for the detection of p53 protein in different cell lysates without any matrix effect after a simple sample dilution. The results correlated accurately with those provided by a commercial ELISA kit, thus confirming the immunosensor as an attractive alternative for rapid and simple determination of this protein using portable and affordable instrumentation. PMID:27879639

  19. Disposable Amperometric Immunosensor for the Determination of Human P53 Protein in Cell Lysates Using Magnetic Micro-Carriers

    Directory of Open Access Journals (Sweden)

    María Pedrero

    2016-11-01

    Full Text Available An amperometric magnetoimmunosensor for the determination of human p53 protein is described in this work using a sandwich configuration involving the covalent immobilization of a specific capture antibody onto activated carboxylic-modified magnetic beads (HOOC-MBs and incubation of the modified MBs with a mixture of the target protein and horseradish peroxidase-labeled antibody (HRP-anti-p53. The resulting modified MBs are captured by a magnet placed under the surface of a disposable carbon screen-printed electrode (SPCE and the amperometric responses are measured at −0.20 V (vs. an Ag pseudo-reference electrode, upon addition of hydroquinone (HQ as a redox mediator and H2O2 as the enzyme substrate. The magnetoimmunosensing platform was successfully applied for the detection of p53 protein in different cell lysates without any matrix effect after a simple sample dilution. The results correlated accurately with those provided by a commercial ELISA kit, thus confirming the immunosensor as an attractive alternative for rapid and simple determination of this protein using portable and affordable instrumentation.

  20. Determination of ultralow level 129I/127I in natural samples by separation of microgram carrier free iodine and accelerator mass spectrometry detection.

    Science.gov (United States)

    Hou, Xiaolin; Zhou, Weijian; Chen, Ning; Zhang, Luyuan; Liu, Qi; Luo, Maoyi; Fan, Yukun; Liang, Wangguo; Fu, Yunchong

    2010-09-15

    Separation of carrier free iodine from low iodine level samples and accurate measurement of ultralow level (129)I in micrograms of iodine target are essential but a bottleneck in geological dating of terrestrial system and tracer research using naturally produced (129)I. In this work, we present a carrier free method using coprecipitation of AgI with AgCl for preparing micrograms of iodine target, associated with combustion using a tube furnace for separating iodine from solid samples and anion exchange chromatography for preconcentrating iodine from a large volume of water. An accelerator mass spectrometry was used to measure ultralow level (129)I in micrograms of iodine target. The recovery of iodine in the entire separation procedure is higher than 80% and 65% for solid and water samples, respectively. One microgram iodine in the target (AgI-AgCl) can produce a stable (127)I signal for AMS measurement of (129)I/(127)I, and a detection limit of this method for (129)I is calculated to be 10(5) atoms. This will allow us to accurately determine (129)I in prenuclear geological samples of low iodine concentration with (129)I/(127)I of 10(-12), such as loess, soil, coral, rock, sediment, and groundwater. Some samples with low iodine content have been successfully analyzed, and the lowest value of the (129)I/(127)I ratio of 2 × 10(-11) was observed in 23.5 and 63.5 m loess samples collected in the Loess Plateau, China. The developed method sheds light on a wide application in earth science.

  1. PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity.

    Science.gov (United States)

    Fansa, Eyad Kalawy; Kösling, Stefanie Kristine; Zent, Eldar; Wittinghofer, Alfred; Ismail, Shehab

    2016-04-11

    The phosphodiesterase 6 delta subunit (PDE6δ) shuttles several farnesylated cargos between membranes. The cargo sorting mechanism between cilia and other compartments is not understood. Here we show using the inositol polyphosphate 5'-phosphatase E (INPP5E) and the GTP-binding protein (Rheb) that cargo sorting depends on the affinity towards PDE6δ and the specificity of cargo release. High-affinity cargo is exclusively released by the ciliary transport regulator Arl3, while low-affinity cargo is released by Arl3 and its non-ciliary homologue Arl2. Structures of PDE6δ/cargo complexes reveal the molecular basis of the sorting signal which depends on the residues at the -1 and -3 positions relative to farnesylated cysteine. Structure-guided mutation allows the generation of a low-affinity INPP5E mutant which loses exclusive ciliary localization. We postulate that the affinity to PDE6δ and the release by Arl2/3 in addition to a retention signal are the determinants for cargo sorting and enrichment at its destination.

  2. Female-only sex-linked amplified fragment length polymorphism markers support ZW/ZZ sex determination in the giant freshwater prawn Macrobrachium rosenbergii.

    Science.gov (United States)

    Jiang, Xue-Hui; Qiu, Gao-Feng

    2013-12-01

    Sex determination mechanisms in many crustacean species are complex and poorly documented. In the giant freshwater prawn, Macrobrachium rosenbergii, a ZW/ZZ sex determination system was previously proposed based on sex ratio data obtained by crosses of sex-reversed females (neomales). To provide molecular evidence for the proposed system, novel sex-linked molecular markers were isolated in this species. Amplified fragment length polymorphism (AFLP) using 64 primer combinations was employed to screen prawn genomes for DNA markers linked with sex loci. Approximately 8400 legible fragments were produced, 13 of which were uniquely identified in female prawns with no indication of corresponding male-specific markers. These AFLP fragments were reamplified, cloned and sequenced, producing two reliable female-specific sequence characterized amplified region (SCAR) markers. Additional individuals from two unrelated geographic populations were used to verify these findings, confirming female-specific amplification of single bands. Detection of internal polymorphic sites was conducted by designing new primer pairs based on these internal fragments. The internal SCAR fragments also displayed specificity in females, indicating high levels of variation between female and male specimens. The distinctive feature of female-linked SCAR markers can be applied for rapid detection of prawn gender. These sex-specific SCAR markers and sex-associated AFLP candidates unique to female specimens support a sex determination system consistent with female heterogamety (ZW) and male homogamety (ZZ).

  3. Genetic diversity and relationships in olive ( Olea europaea L.) germplasm collections as determined by randomly amplified polymorphic DNA.

    Science.gov (United States)

    Belaj, A.; Satovic, Z.; Rallo, L.; Trujillo, I.

    2002-09-01

    Genetic diversity studies using the RAPD technique were carried out in a set of 103 olive cultivars from the World Germplasm Bank of the Centro de Investigación y Formación Agraria (CIFA) "Alameda del Obispo" in Cordoba (Spain). A total of 126 polymorphisms (6.0 polymorphic markers per primer) out of 135 reproducible products (6.4 fragments per primer) were obtained from the 21 primers used. The number of bands per primer ranged from 4 to 11, whereas the number of polymorphic bands ranged from 3 to 10, corresponding to 83% of the amplification products. The dendrogram based on unweighted pair-group cluster analysis using Jaccard's index includes three major groups according to their origin: (1) cultivars from the Eastern and Central Mediterranean areas, (2) some Italian and Spanish cultivars, and (3) cultivars from the Western Mediterranean zone. The pattern of genetic variation among olive cultivars from three different Mediterranean zones (West, Centre and East) was analysed by means of the analysis of molecular variance (AMOVA). Although most of the genetic diversity was attributable to differences of cultivars within Mediterranean zones (96.86%) significant phi-values among zones (phi(st) = 0.031; p < 0.001) suggested the existence of phenotypic differentiation. Furthermore, the AMOVA analysis was used to partition the phenotypic variation of Spain, Italy (Western region), Greece and Turkey (Eastern region) into four categories: among regions, among countries (within regions), within countries, and among and within countries of each region. Most of the genetic diversity was attributable to differences among genotypes within a country. These results are consistent with the predominantly allogamous nature of Olea europaea L. species. This paper indicates the importance of the study of the amount and distribution of genetic diversity for a better exploration of olive genetic resources and the design of plant breeding programmes.

  4. [Natural nucleotide polymorphism of the Srlk gene that determines salt stress tolerance in alfalfa (Medicago sativa L)].

    Science.gov (United States)

    Vishnevskaia, M S; Pavlov, A V; Dziubenko, E A; Dziubenko, N I; Potokina, E K

    2014-04-01

    Based on legume genome syntheny, the nucleotide sequence of Srlk gene, key role of which in response to salt stress was demonstrated for the model species Medicago truncatula, was identified in the major forage and siderate crop alfalfa (Medicago sativa). In twelve alfalfa samples originating from regions with contrasting growing conditions, 19 SNPs were revealed in the Srlk gene. For two nonsynonymous SNPs, molecular markers were designed that could be further used to analyze the association between Srlk gene nucleotide polymorphism and the variability in salt stress tolerance among alfalfa cultivars.

  5. Hydrogen carriers

    Science.gov (United States)

    He, Teng; Pachfule, Pradip; Wu, Hui; Xu, Qiang; Chen, Ping

    2016-12-01

    Hydrogen has the potential to be a major energy vector in a renewable and sustainable future energy mix. The efficient production, storage and delivery of hydrogen are key technical issues that require improvement before its potential can be realized. In this Review, we focus on recent advances in materials development for on-board hydrogen storage. We highlight the strategic design and optimization of hydrides of light-weight elements (for example, boron, nitrogen and carbon) and physisorbents (for example, metal-organic and covalent organic frameworks). Furthermore, hydrogen carriers (for example, NH3, CH3OH-H2O and cycloalkanes) for large-scale distribution and for on-site hydrogen generation are discussed with an emphasis on dehydrogenation catalysts.

  6. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  7. Virtual Screening SNP-Polymorphisms of Genes Determining the High Level of General Non-Specific Reactivity of Organism

    Directory of Open Access Journals (Sweden)

    Yuliya A. Shatyr

    2015-09-01

    Full Text Available As a result of a bioinformatic search using resources of NCBI PubMed Central, PDB, KEGG, and SNP authors have developed a database of genes associated with phenotypic manifestations of general non-specific reactivity level (GNRL. Out of 164 genes primarily relevant by search criteria for a detailed analysis there are selected 23 genes, divided into four groups: genes associated with the synthesis and reception of neurotransmitters (1; genes associated with membrane transport of electrolytes (2; genes associated with the synthesis of interleukins (3; and genes associated with certain metabolic response (4. After studying the SNP-polymorphisms annotations in the database NCBI-SNP, 10 genes and 20 SNP- polymorphisms were identified as the most likely candidates for the potential formation of phenotypic manifestations for GNRL. Further analysis of the degree of influence the conformational variability of amino acid chains in forming the secondary structure of proteins on their likely functional properties allows to select as promising the next 6 SNP: rs1851048 and rs 6777055 in the cacna2d3 gene, encoding the voltage gated Ca2+ channels; rs2562456 in znf-ld gene of zinc-containing transcriptional regulator of DNA methylation; rs6923492 and rs362962 in grm1 gene of metabotropic glutamate receptor; and rs6314 in htr2a gene, coding for serotonin receptor type 2A

  8. Polymorphism in the fatty acid desaturase genes and diet are important determinants of infant n-3 fatty acid status

    DEFF Research Database (Denmark)

    Harsløf, L.B.S.; Larsen, L.H.; Ritz, C.;

    and polymorphism in the genes that encodes the fatty acid desaturases (FADS) has little effect on DHA-status in adults. It is however unclear to what extent endogenous DHA-synthesis contributes to infant DHA-status. Aim: To investigate the role of diet and FADS polymorphism on DHA-status at 9 months and 3 years....... Methods: This cross-sectional study with Danish infants use data from two prospective studies (EFiON and the SKOT cohort). We measured erythrocyte (RBC) DHA-status at 9 months (n=409) and 3 years (n=176) and genotyped 4 FADS tagSNPs, rs3834458, rs1535, rs174575 and rs174448 (n=401). Information about...... breastfeeding was obtained by questionnaires and fish intake was assessed by 7-day pre-coded food diaries. Results: FADS-genotype, breastfeeding, and fish intake were found to explain 25% of the variation in infant RBC DHA-status (mean±SD: 6.6±1.9% of the fatty acids (FA%)). Breastfeeding was the most important...

  9. Functional polymorphism of the mu-opioid receptor gene (OPRM1) influences reinforcement learning in humans.

    Science.gov (United States)

    Lee, Mary R; Gallen, Courtney L; Zhang, Xiaochu; Hodgkinson, Colin A; Goldman, David; Stein, Elliot A; Barr, Christina S

    2011-01-01

    Previous reports on the functional effects (i.e., gain or loss of function), and phenotypic outcomes (e.g., changes in addiction vulnerability and stress response) of a commonly occurring functional single nucleotide polymorphism (SNP) of the mu-opioid receptor (OPRM1 A118G) have been inconsistent. Here we examine the effect of this polymorphism on implicit reward learning. We used a probabilistic signal detection task to determine whether this polymorphism impacts response bias to monetary reward in 63 healthy adult subjects: 51 AA homozygotes and 12 G allele carriers. OPRM1 AA homozygotes exhibited typical responding to the rewarded response--that is, their bias to the rewarded stimulus increased over time. However, OPRM1 G allele carriers exhibited a decline in response to the rewarded stimulus compared to the AA homozygotes. These results extend previous reports on the heritability of performance on this task by implicating a specific polymorphism. Through comparison with other studies using this task, we suggest a possible mechanism by which the OPRM1 polymorphism may confer reduced response to natural reward through a dopamine-mediated decrease during positive reinforcement learning.

  10. Functional polymorphism of the mu-opioid receptor gene (OPRM1 influences reinforcement learning in humans.

    Directory of Open Access Journals (Sweden)

    Mary R Lee

    Full Text Available Previous reports on the functional effects (i.e., gain or loss of function, and phenotypic outcomes (e.g., changes in addiction vulnerability and stress response of a commonly occurring functional single nucleotide polymorphism (SNP of the mu-opioid receptor (OPRM1 A118G have been inconsistent. Here we examine the effect of this polymorphism on implicit reward learning. We used a probabilistic signal detection task to determine whether this polymorphism impacts response bias to monetary reward in 63 healthy adult subjects: 51 AA homozygotes and 12 G allele carriers. OPRM1 AA homozygotes exhibited typical responding to the rewarded response--that is, their bias to the rewarded stimulus increased over time. However, OPRM1 G allele carriers exhibited a decline in response to the rewarded stimulus compared to the AA homozygotes. These results extend previous reports on the heritability of performance on this task by implicating a specific polymorphism. Through comparison with other studies using this task, we suggest a possible mechanism by which the OPRM1 polymorphism may confer reduced response to natural reward through a dopamine-mediated decrease during positive reinforcement learning.

  11. 还原型叶酸载体基因多态性与急性白血病易感性的相关性%Association of single nucleotide polymorphism of reduced folate carrier gene with susceptibility to acute leukemia

    Institute of Scientific and Technical Information of China (English)

    赵玮; 岳丽杰; 陈小文

    2011-01-01

    目的 研究还原型叶酸载体(reduced folate carrier,RFC)80G/A单核苷酸多态性(single nucleotide polymorphism,SNP)与急性白血病(acute leukemia,AL)之间的关联性.方法 采用逆转录-聚合酶链反应-变性梯度凝胶电泳(reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis,RT-PCR-DGGE)结合DNA直接测序,对98例AL患儿和135名正常儿童进行RFC第80位点SNP筛查.结果 在AL组和正常儿童组中发现RFC 80 GA基因型的例数分别为53和52,AA基因型例数分别为24和30,两组A等位基因频率分别为0.515和0.415.应用x2分析发现RFC 80G/A与AL存在交互作用.结论 确定了中国儿童RFC 80G/A的等位基因频率,并初步认为RFC 80G/A与AL发生存在一定的相关性.%Objective To investigate the allele and genotype frequencies of reduced folate carrier gene (RFC) 80G/A polymorphism in Chinese patients with acute leukemia (AL) and healthy control children,and to provide clue for association between the single nucleotide polymorphism (SNP) of RFC and the occurrence of AL. Methods Bone marrow samples from 98 childhood patients with AL and peripheral blood samples from 135 healthy children were obtained to prepare complementary DNAs (cDNAs). The cDNAs were analyzed for the polymorphisms in RFC 80G/A by reverse transcriptase-polymerase chain reactiondenaturing gradient gel electrophoresis (RT-PCR-DGGE) and direct sequencing. Results The A allele frequencies of the AL patients and control children were 0. 515 and 0. 415, respectively (P<0. 05). Chisquare test confirmed a statistical significance of the association between RFC80 G/A and AL. Conclusion RFC 80AA or GA genotype may contribute to increasing the susceptibility to AL.

  12. AT1 Receptor Gene Polymorphisms in relation to Postprandial Lipemia

    Directory of Open Access Journals (Sweden)

    B. Klop

    2012-01-01

    Full Text Available Background. Recent data suggest that the renin-angiotensin system may be involved in triglyceride (TG metabolism. We explored the effect of the common A1166C and C573T polymorphisms of the angiotensin II type 1 receptor (AT1R gene on postprandial lipemia. Methods. Eighty-two subjects measured daytime capillary TG, and postprandial lipemia was estimated as incremental area under the TG curve. The C573T and A1166C polymorphisms of the AT1R gene were determined. Results. Postprandial lipemia was significantly higher in homozygous carriers of the 1166-C allele (9.39±8.36 mM*h/L compared to homozygous carriers of the 1166-A allele (2.02±6.20 mM*h/L (P<0.05. Postprandial lipemia was similar for the different C573T polymorphisms. Conclusion. The 1166-C allele of the AT1R gene seems to be associated with increased postprandial lipemia. These data confirm the earlier described relationships between the renin-angiotensin axis and triglyceride metabolism.

  13. Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

    NARCIS (Netherlands)

    Jakubowska, A.; Rozkrut, D.; Antoniou, A.; Hamann, U.; Scott, R.J.; McGuffog, L.; Healy, S.; Sinilnikova, O.M.; Rennert, G.; Lejbkowicz, F.; Flugelman, A.; Andrulis, I.L.; Glendon, G.; Ozcelik, H.; Thomassen, M.; Paligo, M.; Aretini, P.; Kantala, J.; Aroer, B.; Wachenfeldt, A. von; Liljegren, A.; Loman, N.; Herbst, K.; Kristoffersson, U.; Rosenquist, R.; Karlsson, P.; Stenmark-Askmalm, M.; Melin, B.; Nathanson, K.L.; Domchek, S.M.; Byrski, T.; Huzarski, T.; Gronwald, J.; Menkiszak, J.; Cybulski, C.; Serrano, P.; Osorio, A.; Cajal, T.R.; Tsitlaidou, M.; Benitez, J.; Gilbert, M.; Rookus, M.; Aalfs, C.M.; Kluijt, I.; Boessenkool-Pape, J.L.; Meijers-Heijboer, H.E.; Oosterwijk, J.C.; Asperen, C.J. van; Blok, M.J.; Nelen, M.R.; Ouweland, A.M. van den; Seynaeve, C.; Luijt, R.B. van der; Devilee, P.; Easton, D.F.; Peock, S.; Frost, D.; Platte, R.; Ellis, S.D.; Fineberg, E.; Evans, D.G.; Lalloo, F.; Eeles, R.; Jacobs, C.; Adlard, J.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Godwin, A.; Bove, B.; Stoppa-Lyonnet, D.; Caux-Moncoutier, V.; Belotti, M.; Tirapo, C.; Mazoyer, S.; Barjhoux, L.; Boutry-Kryza, N.; Pujol, P.; Coupier, I.; Peyrat, J.P.; Vennin, P.; Muller, D.; Fricker, J.P.; Venat-Bouvet, L.; Johannsson, O.T.; Isaacs, C.; Schmutzler, R.; Wappenschmidt, B.; Meindl, A.; Arnold, N.; Varon-Mateeva, R.; Niederacher, D.; Sutter, C.; Deissler, H.; Preisler-Adams, S.; Simard, J.; Soucy, P.; Durocher, F.; Chenevix-Trench, G.; Beesley, J.; Chen, X.; Rebbeck, T.; Couch, F.; Wang, X.; Lindor, N.; Fredericksen, Z.; Pankratz, V.S.; Peterlongo, P.; Bonanni, B.; Fortuzzi, S.; Peissel, B.; Szabo, C.; Mai, P.L.; Loud, J.T.; Lubinski, J.; Ligtenberg, M.J.L.; Hoogerbrugge, N.

    2012-01-01

    BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either di

  14. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers : results from a multicenter study

    NARCIS (Netherlands)

    Jakubowska, A.; Rozkrut, D.; Antoniou, A.; Hamann, U.; Scott, R. J.; McGuffog, L.; Healy, S.; Sinilnikova, O. M.; Rennert, G.; Lejbkowicz, F.; Flugelman, A.; Andrulis, I. L.; Glendon, G.; Ozcelik, H.; Thomassen, M.; Paligo, M.; Aretini, P.; Kantala, J.; Aroer, B.; Von Wachenfeldt, A.; Liljegren, A.; Loman, N.; Herbst, K.; Kristoffersson, U.; Rosenquist, R.; Karlsson, P.; Stenmark-Askmalm, M.; Melin, B.; Nathanson, K. L.; Domchek, S. M.; Byrski, T.; Huzarski, T.; Gronwald, J.; Menkiszak, J.; Cybulski, C.; Serrano, P.; Osorio, A.; Cajal, T. R.; Tsitlaidou, M.; Benitez, J.; Gilbert, M.; Rookus, M.; Aalfs, C. M.; Kluijt, I.; Boessenkool-Pape, J. L.; Meijers-Heijboer, H. E. J.; Oosterwijk, J. C.; van Asperen, C. J.; Blok, M. J.; Nelen, M. R.; van den Ouweland, A. M. W.; Seynaeve, C.; van der Luijt, R. B.; Devilee, P.; Easton, D. F.; Peock, S.; Frost, D.; Platte, R.; Ellis, S. D.; Fineberg, E.; Evans, D. G.; Lalloo, F.; Eeles, R.; Jacobs, C.; Adlard, J.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Godwin, A.; Bove, B.; Stoppa-Lyonnet, D.; Caux-Moncoutier, V.; Belotti, M.; Tirapo, C.; Mazoyer, S.; Barjhoux, L.; Boutry-Kryza, N.; Pujol, P.; Coupier, I.; Peyrat, J-P; Vennin, P.; Muller, D.; Fricker, J-P; Venat-Bouvet, L.; Johannsson, OTh; Isaacs, C.; Schmutzler, R.; Wappenschmidt, B.; Meindl, A.; Arnold, N.; Varon-Mateeva, R.; Niederacher, D.; Sutter, C.; Deissler, H.; Preisler-Adams, S.; Simard, J.; Soucy, P.; Durocher, F.; Chenevix-Trench, G.; Beesley, J.; Chen, X.; Rebbeck, T.; Couch, F.; Wang, X.; Lindor, N.; Fredericksen, Z.; Pankratz, V. S.; Peterlongo, P.; Bonanni, B.; Fortuzzi, S.; Peissel, B.; Szabo, C.; Mai, P. L.; Loud, J. T.; Lubinski, J.

    2012-01-01

    BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either di

  15. Total plasma homocysteine and methylenetetrahydrofolate reductase C677T polymorphism in patients with colorectal carcinoma

    Institute of Scientific and Technical Information of China (English)

    Sandra Battistelli; Aurelio Vittoria; Massimo Stefanoni; Camilla Bing; Franco Roviello

    2006-01-01

    AIM: To investigate the behaviour of total plasma homocysteine (tHcy) and its most common genetic determinant defect, the methylenetetrahydrofolate reductase C677T (C677TMTHFR) polymorphism in patients with early stage colorectal carcinoma.METHODS: tHcy was quantified by Abbott IMx immunoassay; screening for C677TMTHFR substitution was performed by PCR and restriction analysis.RESULTS: The frequency of the C/T and T/T genotypes of the C677TMTHFR gene polymorphism did not differ between the groups. The mean tHcy was statistically higher in cancer patients than in control subjects carrying the same C/C or C/T genotype, whereas there was no difference in the T/T homozygous carriers of the two groups. tHcy was significantly higher in the T/T homozygous carriers than in C/C and C/T genotype carriers.CONCLUSION: The statistically significant increase of tHcy observed in C/C and C/T genotype carriers among our cancer patients is related to substrate consumption dependent on the tumor cell proliferation rate, whereas the tHcy increase observed in T/T genotype carriers of both groups probably depends on the enzymatic deficit of the homocysteine conversion to methionine and/or on the folate deficiency.

  16. dbQSNP: a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods.

    Science.gov (United States)

    Tahira, Tomoko; Baba, Shingo; Higasa, Koichiro; Kukita, Yoji; Suzuki, Yutaka; Sugano, Sumio; Hayashi, Kenshi

    2005-08-01

    We present a database, dbQSNP (http://qsnp.gen.kyushu-u.ac.jp/), that provides sequence and allele frequency information for single-nucleotide polymorphisms (SNPs) located in the promoter regions of human genes, which were defined by the 5' ends of full-length cDNA clones. We searched for the SNPs in these regions by sequencing or single-strand conformation polymorphism (SSCP) analysis. The allele frequencies of the identified SNPs in two ethnic groups were quantified by SSCP analyses of pooled DNA samples. The accuracy of our estimation is supported by strong correlations between the frequencies in our data and those in other databases for the same ethnic groups. The frequencies vary considerably between the two ethnic groups studied, suggesting the need for population-based collections and allele frequency determination of SNPs, in, e.g., association studies of diseases. We show profiles of SNP densities that are characteristic of transcription start site regions. A fraction of the SNPs revealed a significantly different allele frequency between the groups, suggesting differential selection of the genes involved.

  17. Effects of candidate gene polymorphisms on the detailed fatty acids profile determined by gas chromatography in bovine milk.

    Science.gov (United States)

    Pegolo, S; Cecchinato, A; Mele, M; Conte, G; Schiavon, S; Bittante, G

    2016-06-01

    Association analyses between candidate genes and bovine milk fatty acids can improve our understanding of genetic variation in milk fatty acid profiles and reveal potential opportunities to tailor milk fat composition through selection strategies. In this work, we investigated the association of 51 single nucleotide polymorphisms (SNP) selected from 37 candidate genes using a functional and positional approach, with 47 fatty acids, 9 fatty acid groups, and 5 Δ(9)-desaturation indices in milk samples from Brown Swiss cows. Individual milk samples were collected from 1,158 Italian Brown Swiss cows, and gas chromatography was used to obtain detailed milk fatty acid compositions. A GoldenGate assay system (Illumina, San Diego, CA) was used to perform genotype 96 selected SNP located in 54 genes across 22 chromosomes. In total, 51 polymorphic SNP in 37 candidate genes were retained for the association analysis. A Bayesian linear animal model was used to estimate the contribution of each SNP. A total of 129 tests indicated relevant additive effects between a given SNP and a single fatty acid trait; 38 SNP belonging to 30 genes were relevant for a total of 57 fatty acid traits. Most of the studied fatty acid traits (~81%) were relevantly associated with multiple SNP. Relevantly associated SNP were mainly found in genes related to fat metabolism, linked to or contained in previously identified quantitative trait loci for fat yield or content, or associated with genes previously identified in association analyses with milk fatty acid profiles in other cow breeds. The most representative candidate genes were LEP, PRL, STAT5A, CCL3, ACACA, GHR, ADRB2, LPIN1, STAT1, FABP4, and CSN2. In particular, relevant associations with SNP located on bovine chromosome 19 (BTA19) were found. Two candidate genes on BTA19 (CCL3 and ACACA) were relevantly associated with de novo short- and medium-chain fatty acids, likely explaining the high heritability values found for these fatty acids

  18. The application of single strand conformation polymorphism (SSCP) analysis in determining Hepatitis E virus intra-host diversity.

    Science.gov (United States)

    Černi, S; Prpić, J; Jemeršić, L; Škorić, D

    2015-09-01

    Genetic heterogeneity of RNA populations influences virus pathogenesis, epidemiology and evolution. Therefore, accurate information regarding virus genetic structure is highly important for both diagnostic and scientific purposes. For the Hepatitis E virus (HEV), the causal agent of hepatitis in humans, the intra-host population structure has been poorly investigated, mainly using the less sensitive RFLP-based approach. The objective of this study was to assess the suitability and the accuracy of single strand conformation polymorphism (SSCP) analysis, a well-established tool in genetic variation research, for the characterization of HEV quasispecies. The analysis was conducted on 50 clones of five swine isolates and 30 clones of three human HEV isolates. To identify and quantify the sequence variants present in each HEV isolate, 348bp long fragments of the amplified conserved ORF2 region were separated by cloning. Ten clones per isolate were subjected to SSCP and sequenced in a parallel experiment. The results show a high correlation of SSCP haplotype profiling with the sequencing results, confirming the sensitivity and reliability of this simple, rapid and low cost approach in the characterization of HEV quasispecies.

  19. Determination of clopidogrel hydrogen sulfate polymorphs%硫酸氢盐氯吡格雷药物晶型测定

    Institute of Scientific and Technical Information of China (English)

    王古平

    2011-01-01

    利用傅立叶红外光谱(FTIR)、差示扫描量热分析(DSC)、热重分析(TGA)、X-射线衍射(XRD)对硫酸氯吡格雷的晶型进行了测定与分析,结果表明,XRD在晶型测定与分析中优势明显,并通过全谱拟合获得晶型的晶胞参数.%The crystalline form of clopidogrel hydrogen sulfate were measured and analysised by fourier transform infrared spectroscopy(FTIR), differential scanning calorimeter( DSC), thermal gravimetric analysis(TGA), X-ray diffractometer(XRD).The results showed that the XRD has unique excellent effects in determination of drug polymorphism. The crystallography cell parameters were obtained by whole powder pattern decomposition meted.

  20. Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

    Directory of Open Access Journals (Sweden)

    Muzaffer Ilhan

    2015-01-01

    Full Text Available Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR polymorphisms and acromegaly. Design, Patients, and Methods. 52 acromegaly patients (mean age 45.7±1.9 years and 83 controls (mean age 43.1±2.6 years were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods. Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034. VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035 and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1; P=0.020. IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049. 25(OHD3 levels were significantly lower in acromegaly patients (P<0.001. Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.

  1. Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

    Science.gov (United States)

    Ilhan, Muzaffer; Toptas-Hekimoglu, Bahar; Yaylim, Ilhan; Turgut, Seda; Turan, Saime; Karaman, Ozcan; Tasan, Ertugrul

    2015-01-01

    Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly. Design, Patients, and Methods. 52 acromegaly patients (mean age 45.7 ± 1.9 years) and 83 controls (mean age 43.1 ± 2.6 years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods. Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P = 0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P = 0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1; P = 0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P = 0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P < 0.001). Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status. PMID:25839036

  2. Association of Gghrelin Polymorphisms with Metabolic Syndrome in Han Nationality Chinese

    Institute of Scientific and Technical Information of China (English)

    LING-LING XU; HONG-DING XIANG; CHANG-CHUN QIU; QUN XU

    2008-01-01

    Objective To investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese. Methods A total of 240 patients with metabolic syndrome annd 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment lengthpolymorphism analysis.Results The allelic frequency of the Leu72Met polymorphismwas 17.3% in the patient group and 11.9% in the control group(x2=7.36, P=0.007). Metabolic syndrome was more prevalent among carriers of the Met72 variant (43.8 vs 33.1%, age- and sex-adjusted odds ratio=1.57, P=0.01). No Arg51Gln variants were found in our study subjects. Conclusion Rather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Hart Nationality Chinese.

  3. Differential Analysis of the Nasal Microbiome of Pig Carriers or Non-Carriers of Staphylococcus aureus

    DEFF Research Database (Denmark)

    Espinosa-Gongora, Carmen; Larsen, Niels; Schonning, Kristian;

    2016-01-01

    pathogen in animal carriers. The aim of this study was to determine whether the nasal microbiome of pig S. aureus carriers differs from that of non-carriers. The V3-V5 region of the 16S rRNA gene was sequenced from nasal swabs of 44 S. aureus carriers and 56 non-carriers using the 454 GS FLX titanium...... microbiome of pigs that are not colonized with S. aureus harbours several species/taxa that are significantly less abundant in pig carriers, suggesting that the nasal microbiota may play a role in the individual predisposition to S. aureus nasal carriage in pigs. Further research is warranted to isolate...

  4. Low-cost carriers fare competition effect

    OpenAIRE

    Carmona Benitez, R.B.; Lodewijks, G.

    2010-01-01

    This paper examines the effects that low-cost carriers (LCC’s) produce when entering new routes operated only by full-service carriers (FSC’s) and routes operated by low-cost carriers in competition with full-service carriers. A mathematical model has been developed to determine what routes should be operated by a low-cost carrier with better possibilities to subsist. The proposed model in this paper was set up by analyzing The United States domestic air transport market 2005 year database fr...

  5. H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients.

    Science.gov (United States)

    Jiang, S; Li, F L; Dong, Q; Liu, H W; Fang, C F; Shu, C; Cheng, H; Cui, J; Ma, H X; Chen, D Q; Li, H

    2014-08-28

    Keshan disease (KSD), a potentially fatal cardiomyopathy, has very high incidence in some selenium-poor regions of China. KSD may be accompanied with a variety of arrhythmia, which is associated with mutations in the gene coding for cardiac voltage-gated sodium channel (SCN5A). The molecular mechanism of KSD is still largely obscure. We aimed to determine the association between the H558R polymorphism of SCN5A and KSD. We recruited 71 patients with KSD and 80 geographical region-matched control subjects in our study. Vital sign and electrocardiographic (ECG) measurements were performed for heart rate, systolic pressure, diastolic pressure, PR interval, QT interval, QRS duration, ST-T changes and complete right bundle branch block (CRBBB), and H558R polymorphism was genotyped using the polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) method and sequencing. A significant association was found between the H558R polymorphism of exon 12 and KSD. Allele C carriers had a decreased risk for KSD with an odds ratio of 0.332 [95% confidence interval (CI), 0.160-0.692] as well as for QRS prolongation in KSD patients with an odds ratio of 0.089 (95%CI, 0.022-0.361). Our results provide support to the association between H558R polymorphism and the decreased risk for KSD. H558R polymorphism might increase susceptibility to KSD, and SCN5A containing the polymorphism might be a predisposing gene for QRS prolongation.

  6. Determination of charge-carrier diffusion length in the photosensing layer of HgCdTe n-on-p photovoltaic infrared focal plane array detectors

    Energy Technology Data Exchange (ETDEWEB)

    Vishnyakov, A. V.; Stuchinsky, V. A., E-mail: stuchin@isp.nsc.ru; Brunev, D. V.; Zverev, A. V.; Dvoretsky, S. A. [Institute of Semiconductor Physics, Russian Academy of Science, Siberian Division, 13, Acad. Lavrent' ev Avenue, Novosibirsk 630090 (Russian Federation)

    2014-03-03

    In the present paper, we propose a method for evaluating the bulk diffusion length of minority charge carriers in the photosensing layer of photovoltaic focal plane array (FPA) photodetectors. The method is based on scanning a strip-shaped illumination spot with one of the detector diodes at a low level of photocurrents j{sub ph} being registered; such scanning provides data for subsequent analysis of measured spot-scan profiles within a simple diffusion model. The asymptotic behavior of the effective (at j{sub ph} ≠ 0) charge-carrier diffusion length l{sub d} {sub eff} as a function of j{sub ph} for j{sub ph} → 0 inferred from our experimental data proved to be consistent with the behavior of l{sub d} {sub eff} vs j{sub ph} as predicted by the model, while the obtained values of the bulk diffusion length of minority carriers (electrons) in the p-HgCdTe film of investigated HgCdTe n-on-p FPA photodetectors were found to be in a good agreement with the previously reported carrier diffusion-length values for HgCdTe.

  7. Contribution to the spectrographic determination of impurities in uranium by the carrier distillation method; Nuevas aportaciones a la determinacion espectrografica de impurezas en materiales de uranio por el metodo de distilacion fraccionada con portador

    Energy Technology Data Exchange (ETDEWEB)

    Capdevila, C.

    1967-07-01

    The carrier distillation method for the determination of impurities in uranium has been modified in order to get a greater sensitivity. Electrodes 9.5 mm. diam. with a crater 7 mm. diam. and 10 mm. deep have been used, being the weigh of charge 300 mg.. The elements considered were: Al, As, B, Ca, Cd, Co, Cr, Cu, Fe, Mg, Mn, Mo, Ni, P, Pb, Si, Sn, Ti and V, over the range 0.01 to 30 ppm. (Author) 13 refs.

  8. Association between telomere length and CYP19 TTTA repetition polymorphism in healthy and breast cancer-diagnosed women

    Science.gov (United States)

    Murillo-Ortiz, Blanca; Martínez-Garza, Sandra; Suárez García, David; Castillo Valenzuela, Rosa del Carmen; García Regalado, Juan Francisco; Cano Velázquez, Gerardo

    2017-01-01

    Introduction Several studies have reported an increase in breast cancer (BC) risk when patients are carriers of the CYP19 TTA polymorphism with ≥10 repeats; moreover, it has been reported that telomere length is associated with a higher susceptibility of developing cancer. Objective The objective of this study was to understand the relationship between CYP19 TTTA repetition polymorphism and telomere length and its effects on serum estradiol, estrone and follicle-stimulating hormone (FSH). Materials and methods A total of 180 postmenopausal healthy and 70 BC-diagnosed women were included. Telomere length was determined through real-time quantitative polymerase chain reaction, and aromatase polymorphism was analyzed through DNA; both samples were obtained from circulating leukocytes. Serum estrone, estradiol and FSH were determined by enzyme-linked immunosorbent assay. Results Patients with a BC diagnosis showed >10 repetitions more frequently, compared with that of healthy women (50% vs 23%, χ2 = 11.44, p = 0.0007). A significant difference in telomere length between healthy and BC women was observed (5,042.7 vs 2,256.7 pb, Z = 4.88, p 10 repeats. Moreover, telomere length showed an inverse relationship with the number of repeats of the aromatase polymorphism in healthy women (R2 = 0.04, r = −0.24); in contrast, BC patients did not display this relationship. In addition, telomere length presented an inverse relationship with serum levels of estradiol and estrone in BC patients (p = 0.02). Conclusion Telomere length is shorter in BC patients than in healthy patients. The CYP19 TTTA repeat polymorphism is associated with serum levels of estradiol and estrone in both healthy women and BC patients, being higher in those with polymorphism carriers >10 repeats. Telomere length has an inverse correlation with the number of repeats of the aromatase polymorphism in healthy women but not in BC women. Estradiol and estrone levels in BC women have an inverse relationship

  9. A single nucleotide polymorphism at the right terminal region of Mexican papita viroid is a virulent determinant factor on tomato

    Science.gov (United States)

    Mexican papita viroid (MPVd), a pospiviroid, causes serious disease outbreaks on greenhouse tomato in North America. Two dominant genotypes (MPV-S and MPV-M), sharing 93.8% sequence identity, incited striking different symptom expression (severe and mild) on tomato ‘Rutgers’. To determine genetic ...

  10. Development of an assay to determine single nucleotide polymorphisms in the prion gene for the genetic diagnosis of relative susceptibility to classical scrapie in sheep.

    Science.gov (United States)

    Johnson, Mary Lynn; Evoniuk, Jessica M; Stoltenow, Charles L; O'rourke, Katherine I; Redmer, Dale A

    2007-01-01

    The objective of this study was to develop a reliable Taqman 5' Nuclease Assay for genotyping sheep for scrapie susceptibility. The sheep prion gene contains 2 single nucleotide polymorphisms (SNPs) that may mediate resistance to classical scrapie, one at codon 136, alanine (A) or valine (V), and another at codon 171, arginine (R) or glutamine (Q). The R allele appears to confer resistance to classical scrapie, with the AA(136) RR(171) genotype the most resistant to scrapie and QR(171) only rarely infected in the US sheep population. The Assays by Design protocol was used for development of probes and primers for codon 136 and Primer Express for codon 171. Commercially available kits were used to isolate genomic DNA from blood or muscle. For validation, 70 SNP determinations for each codon were compared to commercial testing with an error rate of less than 1%. Then, 935 samples from blood (n = 818) and muscle (n = 117) were tested for both codons with 928 successful determinations and only 7 samples (scrapie-resistant. This new Taqman 5' Nuclease SNP genotyping assay is accurate, easy to perform, and useful in the study of classical scrapie in sheep and its prevention through selective breeding programs to eliminate highly susceptible animals.

  11. Polymorph identification and crystal structure determination by a combined crystal structure prediction and transmission electron microscopy approach.

    Science.gov (United States)

    Eddleston, Mark D; Hejczyk, Katarzyna E; Bithell, Erica G; Day, Graeme M; Jones, William

    2013-06-10

    Electron diffraction offers advantages over X-ray based methods for crystal structure determination because it can be applied to sub-micron sized crystallites, and picogram quantities of material. For molecular organic species, however, crystal structure determination with electron diffraction is hindered by rapid crystal deterioration in the electron beam, limiting the amount of diffraction data that can be collected, and by the effect of dynamical scattering on reflection intensities. Automated electron diffraction tomography provides one possible solution. We demonstrate here, however, an alternative approach in which a set of putative crystal structures of the compound of interest is generated by crystal structure prediction methods and electron diffraction is used to determine which of these putative structures is experimentally observed. This approach enables the advantages of electron diffraction to be exploited, while avoiding the need to obtain large amounts of diffraction data or accurate reflection intensities. We demonstrate the application of the methodology to the pharmaceutical compounds paracetamol, scyllo-inositol and theophylline.

  12. Phylogenetic relationships of Asian and European pig breeds determined by mitochondrial DNA D-loop sequence polymorphism.

    Science.gov (United States)

    Kim, K I; Lee, J H; Li, K; Zhang, Y P; Lee, S S; Gongora, J; Moran, C

    2002-02-01

    Phylogenetic relationships among Asian and European pig breeds were assessed using 1036 bp of mitochondrial DNA (mtDNA) D-loop sequences. An unweighted pair-group method with arithmetic mean (UPGMA) tree was constructed on the basis of maximum likelihood distances using sequences determined for three Cheju (Korea), 11 Chinese, one Westran (Australian feral origin) and two European pigs (Berkshire and Welsh), and also published sequences for four Japanese (including two Wild Boars), one Yucatan miniature, five European (including Large White, Landrace, Duroc, Swedish and Wild Boar) and two Meishan pigs. The Colombian collared peccary (Tayassu tajacu) sequence was also determined and used as an outgroup. The maximum parsimony with heuristic search method was used to determine bootstrap support values. Asian-type pigs clustered together (bootstrap support 33%), but were separate from European-type pigs that also clustered together (93%). The Westran pig, derived from the feral descendants of pigs inhabiting Kangaroo Island of South Australia, clustered with Asian pigs, demonstrating Asian origin of their mitochondria. Berkshire and Large White clustered with Asian pigs, indicating that Asian pigs were involved in the development of these breeds. Our findings clearly demonstrate that pigs indigenous to China, Korea and Japan are only recently diverged from each other and distinctly different from European-type pigs. European pig breeds consist of pigs with mitochondria of Asian and non-Asian type, some of which were formed from closely related maternal ancestors, if not from a single ancestor.

  13. 母亲还原叶酸载体1基因80G/A多态性与子女唐氏综合症易感性关系的meta分析%Correlation between maternal reduced folate carrier 1 gene 80G/A polymorphism and offspring down syndrome susceptibility: A meta-Analysis

    Institute of Scientific and Technical Information of China (English)

    何大莉; 曾照芳

    2013-01-01

    目的:探讨母亲还原叶酸载体1(RFC1)基因80G/A多态性与子女唐氏综合症(DS)易感性的相关性.方法:计算机检索PubMed、MEDLINE 、Web of Science、CNKI、CBM数据库,收集从建库至2012年9月间关于母亲RFC1基因80G/A多态性与子女DS易感性相关性的病例对照研究,对符合纳入标准的文献进行Meta分析.结果:共纳入7个研究,包括病例625例,对照767例.Meta分析结果显示:母亲RFC1基因80G/A多态性与子女DS易感性的相关性在各比较模型中差异无统计学意义[A Vs.G:OR=0.85,95%CI(0.73,1.00);AA Vs.GG:OR=0.73,95%CI(0.53,0.99);AA Vs.AG+ GG:OR=0.82,95%CI(0.63,1.06);AA+ AG Vs.GG:OR=0.81,95%CI(0.64,1.03)].基于人种的亚组分析结果显示,两者相关性无统计学意义.结论:目前的研究结果显示,母亲RFC1基因80G/A多态性与子女DS易感性无明显相关性.%Objective:To evaluate the correlation between maternal reduced folate carrier 1 (RFCl)gene 80G/A polymorphism and offspring Down syndrome susceptibility.Methods: We searched PubMed,MEDL!NE,Web of Science, CNKK CBM database and collected all the publications about the correlation between maternal reduced folate carrier 1 gene 80G/A polymorphism and offspring Down syndrome susceptibility. Results: A total of 7 studies involving 625 mothers who had children affected by DS and 767 controls mothers who had no miscarriages or children affected by genetic disorders in their life. The results of meta - analyses showed no significant difference was found in the correlation between maternal RFC1 80G/A polymorphism and offspring Down syndrome susceptibility( A Vs. G: OR = 0.85,95%CI(0.73,1.00); AAVs.GG: OR = 0.73,95%CI(0.53,0.99); AA Vs. AG+GG: OR = 0.82,95%CI(0.63,1.06); AA+AGVs. GG: OR = 0.81,95%CI(0.64,1.03) ]. In the subgroup analyses on ethnicity, no significant correlation was found. Conclusion:The present meta - analysis suggests that the correlation between maternal RFC1 80G/A polymorphism and

  14. 磁阻传感器在载波相位测姿中的应用%Application of Magneto-Resistance Sensor in GPS Carrier Phase Based Attitude Determination

    Institute of Scientific and Technical Information of China (English)

    钟云海; 郑海; 王孝通

    2011-01-01

    GPS carrier phase based attitude determination has high precision and startup speed, but also has inherent cycle-slip as it is easy to be interfered.A new GPS carrier phase attitude determination method with magneto-resistance sensor integrated is presented, which is based on a double-difference equation and can enhence the robustness of integer ambiguity estimation and the measurement's stability through the double constraints of baseline length and magneto-resistance sensor's heading.Actual measurement results show that this method can effectively remove abnormal values of carrier attitude measurement and be applied in practice.%GPS载波测姿精度高、启动快,但容易受干扰影响,存在固有的周跳现象.为此提出了一种利用磁阻传感器辅助GPS测姿的新方法,基于载波测量的双差方程,通过基线长度和磁阻航向的双重约束,提高模糊度估计的可靠性和测量的稳定性.实际测试结果表明,该方法有效地剔除了载波姿态测量的异常值,具有应用价值.

  15. Role of vitamin D receptor (VDR gene polymorphism in the pathogenesis of juvenile idiopathic arthritis: Theoretical and practical aspects

    Directory of Open Access Journals (Sweden)

    M. M. Kostik

    2014-01-01

    Full Text Available Juvenile idiopathic arthritis (JIA is a chronic inflammatory joint disease associated with impaired immune system performance. The specific features of JIA may be genetically determined.Objective: to assess JIA activity in children with vitamin D receptor (VDR gene ApaI and BsmI polymorphism genotypes.Subjects and methods. The investigation enrolled 71 patients with JIA. When included in the investigation, all the patients were in an active state of disease. JIA activity was assessed using the most commonly used clinical and laboratory indicators, including the Ritchie articular index (RAI, JADAS10, JADAS27, JADAS71, CDAI, DAS, and DAS28. Molecular genetic studies determined VDR gene ApaI and BsmI polymorphisms by polymerase chain reaction, followed by restriction analysis.Results. The boys who were carriers of a bb BsmI polymorphic marker in the VDR gene had a significantly higher activity of JIA measured by RAI (p=0.03, DAS (p<0.05, JADAS10 (p=0.04, JADAS27 (p=0.04, and JADAS71 (p=0.04 than those who were carriers of B allele (BB + Bb genotypes.Conclusion. The carriage of the VDR gene bb BsmI genotype of the polymorphic marker is associated with high JIA activity, which may be regarded as a marker of poor prognosis in boys with JIA.

  16. Poly-ß-hydroxybutyrate content and dose of the bacterial carrier for Artemia enrichment determine the performance of giant freshwater prawn larvae.

    Science.gov (United States)

    Thai, Truong Quoc; Wille, Mathieu; Garcia-Gonzalez, Linsey; Sorgeloos, Patrick; Bossier, Peter; De Schryver, Peter

    2014-06-01

    The beneficial effects of poly-β-hydroxybutyrate (PHB) for aquaculture animals have been shown in several studies. The strategy of applying PHB contained in a bacterial carrier has, however, hardly been considered. The effect of administering PHB-accumulated Alcaligenes eutrophus H16 containing 10 or 80 % PHB on dry weight, named A10 and A80, respectively, through the live feed Artemia was investigated on the culture performance of larvae of the giant freshwater prawn (Macrobrachium rosenbergii). Feeding larvae with Artemia nauplii enriched in a medium containing 100 and 1,000 mg L(-1) A80 significantly increased the survival with about 15 % and the development of the larvae with a larval stage index of about 1 as compared to feeding non-enriched Artemia. The survival of the larvae also significantly increased with about 35 % in case of a challenge with Vibrio harveyi. The efficiency of these treatments was equal to a control treatment of Artemia enriched in an 800 mg L(-1) PHB powder suspension, while Artemia enriched in 10 mg L(-1) A80, 100 mg L(-1) A10, and 1,000 mg L(-1) A10 did not bring similar effects. From our results, it can be concluded that PHB supplemented in a bacterial carrier (i.e., amorphous PHB) can increase the larviculture efficiency of giant freshwater prawn similar to supplementation of PHB in powdered form (i.e., crystalline PHB). When the level of PHB in the bacterial carrier is high, similar beneficial effects can be achieved as crystalline PHB, but at a lower live food enrichment concentration expressed on PHB basis.

  17. Ultrafast carriers dynamics in filled-skutterudites

    Energy Technology Data Exchange (ETDEWEB)

    Guo, Liang; Xu, Xianfan, E-mail: xxu@purdue.edu [School of Mechanical Engineering and Birck Nanotechnology Center, Purdue University, West Lafayette, Indiana 47907 (United States); Salvador, James R. [Chemical and Materials Systems Laboratory, GM Global R and D, Warren, Michigan 48090 (United States)

    2015-06-08

    Carrier dynamics of filled-skutterudites, an important class of thermoelectric materials, is investigated using ultrafast optical spectroscopy. By tuning the wavelength of the probe laser, charge transfers at different electronic energy levels are interrogated. Analysis based on the Kramers-Kronig relation explains the complex spectroscopy data, which is mainly due to band filling caused by photo-excited carriers and free carrier absorption. The relaxation time of hot carriers is found to be about 0.4–0.6 ps, depending on the electronic energy level, and the characteristic time for carrier-phonon equilibrium is about 0.95 ps. These studies of carrier dynamics, which fundamentally determines the transport properties of thermoelectric material, can provide guidance for the design of materials.

  18. Ultrafast carriers dynamics in filled-skutterudites

    Science.gov (United States)

    Guo, Liang; Xu, Xianfan; Salvador, James R.

    2015-06-01

    Carrier dynamics of filled-skutterudites, an important class of thermoelectric materials, is investigated using ultrafast optical spectroscopy. By tuning the wavelength of the probe laser, charge transfers at different electronic energy levels are interrogated. Analysis based on the Kramers-Kronig relation explains the complex spectroscopy data, which is mainly due to band filling caused by photo-excited carriers and free carrier absorption. The relaxation time of hot carriers is found to be about 0.4-0.6 ps, depending on the electronic energy level, and the characteristic time for carrier-phonon equilibrium is about 0.95 ps. These studies of carrier dynamics, which fundamentally determines the transport properties of thermoelectric material, can provide guidance for the design of materials.

  19. Investigation of Uranium Polymorphs

    Energy Technology Data Exchange (ETDEWEB)

    Sweet, Lucas E.; Henager, Charles H.; Hu, Shenyang Y.; Johnson, Timothy J.; Meier, David E.; Peper, Shane M.; Schwantes, Jon M.

    2011-08-01

    The UO3-water system is complex and has not been fully characterized, even though these species are common throughout the nuclear fuel cycle. As an example, most production schemes for UO3 result in a mixture of up to six or more different polymorphic phases, and small differences in these conditions will affect phase genesis that ultimately result in measureable changes to the end product. As a result, this feature of the UO3-water system may be useful as a means for determining process history. This research effort attempts to better characterize the UO3-water system with a variety of optical techniques for the purpose of developing some predictive capability for estimating process history in polymorphic phases of unknown origin. Three commercially relevant preparation methods for the production of UO3 were explored. Previously unreported low temperature routes to β- and γ-UO3 were discovered. Raman and fluorescence spectroscopic libraries were established for pure and mixed polymorphic forms of UO3 in addition to the common hydrolysis products of UO3. An advantage of the sensitivity of optical fluorescence microscopy over XRD has been demonstrated. Preliminary aging studies of the α and γ forms of UO3 have been conducted. In addition, development of a 3-D phase field model used to predict phase genesis of the system was initiated. Thermodynamic and structural constants that will feed the model have been gathered from the literature for most of the UO3 polymorphic phases.

  20. Differential Analysis of the Nasal Microbiome of Pig Carriers or Non-Carriers of Staphylococcus aureus

    DEFF Research Database (Denmark)

    Espinosa-Gongora, Carmen; Larsen, Niels; Schonning, Kristian;

    2016-01-01

    Staphylococcus aureus is presently regarded as an emerging zoonotic agent due to the spread of specific methicillin-resistant S. aureus (MRSA) clones in pig farms. Studying the microbiota can be useful for the identification of bacteria that antagonize such opportunistic veterinary and zoonotic...... pathogen in animal carriers. The aim of this study was to determine whether the nasal microbiome of pig S. aureus carriers differs from that of non-carriers. The V3-V5 region of the 16S rRNA gene was sequenced from nasal swabs of 44 S. aureus carriers and 56 non-carriers using the 454 GS FLX titanium...... system. Carriers and non-carriers were selected on the basis of quantitative longitudinal data on S. aureus carriage in 600 pigs sampled at 20 Danish herds included in two previous studies in Denmark. Raw sequences were analysed with the BION meta package and the resulting abundance matrix was analysed...

  1. RAD51 G135C genetic polymorphism and their potential role in gastric cancer induced by Helicobacter pylori infection in Bhutan.

    Science.gov (United States)

    Trang, T T H; Nagashima, H; Uchida, T; Mahachai, V; Vilaichone, R-K; Tshering, L; Binh, T T; Yamaoka, Y

    2016-01-01

    In order to evaluate the role of the RAD51 G135C genetic polymorphism on the risk of gastric cancer induced by Helicobacter pylori infection, we determined allele frequency and genotype distribution of this polymorphism in Bhutan--a population documented with high prevalence of gastric cancer and extremely high prevalence of H. pylori infection. The status of RAD51 G135C was examined by restriction fragment length polymorphism analysis of PCR amplified fragments and sequencing. Histological scores were evaluated according to the updated Sydney system. G135C carriers showed significantly higher scores for intestinal metaplasia in the antrum than G135G carriers [mean (median) 0·33 (0) vs. 0·08 (0), P = 0·008]. Higher scores for intestinal metaplasia of G135C carriers compared to those of G135G carriers were also observed in H. pylori-positive patients [0·3 (0) vs. 0·1 (0), P = 0·002] and H. pylori-positive patients with gastritis [0·4 (0) vs. 0·1 (0), P = 0·002] but were not found in H. pylori-negative patients. Our findings revealed that a combination of H. pylori infection and RAD51 G135C genotype of the host showed an increasing score for intestinal metaplasia. Therefore, RAD51 G135C might be the important predictor for gastric cancer of H. pylori-infected patients.

  2. Caspase 9 promoter polymorphisms confer increased susceptibility to breast cancer.

    Science.gov (United States)

    Theodoropoulos, George E; Michalopoulos, Nikolaos V; Pantou, Malena P; Kontogianni, Panagiota; Gazouli, Maria; Karantanos, Theodoros; Lymperi, Maria; Zografos, George C

    2012-10-01

    Caspases (CASPs), play a crucial role in the development and progression of cancer. We evaluated the association between two polymorphisms (rs4645978 and rs4645981) of the CASP9 gene and the risk of breast cancer (BC). Genotypes and allelic frequencies for the two polymorphisms were determined in 261 patients with breast cancer and 480 healthy controls. Polymerase chain reaction-restriction fragment length polymorphisms were used, and statistical significance was determined by the χ(2) test. Carriers of the rs4645978G allele (AG and GG genotypes) were at higher risk for BC than individuals with other genotypes (odds ratio (OR) 1.59, 95% confidence interval (CI) 1.07-2.37, P = 0.022). The rs4645978GG genotype, in particular, was associated with the highest risk for BC development (OR 2.25, 95% CI 1.45-3.49, P = 0.0003). Similarly, individuals with at least one rs4645981T allele were at a significantly increased risk of developing BC compared with those harboring the CC genotype (OR 2.75, 95% CI 1.99-3.78, P < 0.0001), and the risk of BC increased with increasing numbers of rs4645981T alleles (OR 2.66, 95% CI 1.91-3.69, P < 0.0001 for the CT genotype; OR 3.95, 95% CI 1.58-9.88, P = 0.004 for the TT genotype). The CASP9 promoter polymorphisms rs4645978 and rs4645981 are associated with BC susceptibility and suggest that CASP9 transcriptional regulation is an important factor during BC development.

  3. Uniparental disomy analysis in carriers of balanced chromosome rearrangements

    Energy Technology Data Exchange (ETDEWEB)

    May, K.M.; Pettay, D.; Muralidharan, K. [Emory Univ. School of Medicine, Atlanta, GA (United States)] [and others

    1994-09-01

    Although most individuals who carry a balanced familial chromosome rearrangement are phenotypically normal, those who are clinically abnormal raise the question of whether or not the rearrangement plays a causative role. One possible mechanism involves meiotic segregation of a normal homolog along with the rearranged chromosome(s) such that a trisomic conception occurs. Subsequent loss by mitotic nondisjunction of the structurally normal chromosome contributed by the non-carrier parent would then result in uniparental disomy (UPD) in a conceptus carrying a balanced rearrangement. UPD for chromosomes 14 and 15 has been demonstrated in several clinically abnormal individuals who carry a familial Robertsonian translocation. We have extended this type of analysis to include other forms of balanced chromosome rearrangements. We report the results of UPD analysis of 14 families who have a phenotypically abnormal child with an apparently balanced rearrangement. The series includes 4 reciprocal translocations, 4 Robertsonian translocations, 2 X;autosome translocations, and 4 inversions. High resolution chromosomes were used to compare breakpoints between parent and offspring to exclude the possibility of further rearrangements. Parental origin of the chromosome(s) involved was determined by DNA polymorphism analysis using PCR or Southern blotting techniques. We found no evidence of UPD in any of the 14 cases. Our data suggest that UPD is not a common explanation for phenotypically abnormal carriers of balanced chromosome rearrangements.

  4. Multiplex pyrosequencing method to determine CYP2C9*3, VKORC1*2, and CYP4F2*3 polymorphisms simultaneously: its application to a Korean population and comparisons with other ethnic groups.

    Science.gov (United States)

    Kim, Kyoung-Ah; Song, Wan-Geun; Lee, Hae-Mi; Joo, Hyun-Jin; Park, Ji-Young

    2014-11-01

    Warfarin is an anticoagulant that is difficult to administer because of the wide variation in dose requirements to achieve a therapeutic effect. CYP2C9, VKROC1, and CYP4F2 play important roles in warfarin metabolism, and their genetic polymorphisms are related to the variability in dose determination. In this study we describe a new multiplex pyrosequencing method to identify CYP2C9*3 (rs1057910), VKORC1*2 (rs9923231), and CYP4F2*3 (rs2108661) simultaneously. A multiplex pyrosequencing method to simultaneously detect CYP2C9*3, VKORC1*2, and CYP4F2*3 alleles was designed. We assessed the allele frequencies of the polymorphisms in 250 Korean subjects using the multiplex pyrosequencing method. The results showed 100 % concordance between single and multiplex pyrosequencing methods, and the polymorphisms identified by pyrosequencing were also validated with the direct sequencing method. The allele frequencies of these polymorphisms in this population were as follows: 0.040 for CYP2C9*3, 0.918 for VKORC1*2, and 0.416 for CYP4F2*3. Although the allele frequencies of the CYP2C9*3 and VKROC1*2 were comparable to those in Japanese and Chinese populations, their frequencies in this Korean population differed from those in other ethnic groups; the CYP4F2*3 frequency was the highest among other ethnic populations including Chinese and Japanese populations. The pyrosequencing methods developed were rapid and reliable for detecting CYP2C9*3, VKORC1*2, and CYP4F2*3. Large ethnic differences in the frequency of these genetic polymorphisms were noted among ethnic groups. CYP4F2*3 exhibited its highest allele frequency among other ethnic populations compared to that in a Korean population.

  5. A study on the effect of IL-6 gene polymorphism on the prognosis of non-small-cell lung cancer

    Directory of Open Access Journals (Sweden)

    Jia W

    2015-09-01

    opioids than GG or GC carriers.Conclusion: Polymorphism of -174G/C in IL-6 is closely related to cancer pain in NSCLC patients, the use of analgesics, and survival prognosis. It is necessary to further confirm the related results and determine the underlying pathogenic mechanisms. Keywords: interleukin 6, NSCLC, survival rate

  6. Cognitive functions, lipid profile, and Apolipoprotein E gene polymorphism in postmenopausal women

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    Iwona Bojar

    2015-05-01

    Full Text Available The objective of the study was investigation of the relationship between cognitive functions and lipid profile, BMI and change of body weight in postmenopausal women carriers of Apolipoprotein E gene polymorphisms (APOE. A group of 170 women was recruited to the study. The inclusion criteria were: minimum of two years after the last menstruation, FSH concentration 30 U/ml and no signs of dementia on the Montreal Cognitive Assessment (MoCA. A computerized battery of Central Nervous System Vital Signs (CNS VS was used for diagnostic cognitive functions. APOE genotype was performed by multiplex PCR. In blood plasma were determined: triglycerides, total cholesterol and its fractions: HDL cholesterol and LDL cholesterol. Statistical analysis was performed using two-way analysis of variance in STATISTICA software. In the postmenopausal women examined, the carrier state of APOE gene polymorphism was associated with the level of triglycerides, and results concerning three cognitive functions: executive functions, psychomotor speed, and cognitive flexibility. Loss of body weight in postmenopausal women was related with lower results in neurocognitive index and the majority of cognitive functions. The results concerning cognitive functions in postmenopausal women in the study were not significantly related with lipid profile. Significant differences were observed according to APOE gene polymorphism in correlations between LDL/HDL and CHOL/HDL ratios, and results in the processing speed and reaction time, as well as between the BMI and results in processing speed in the postmenopausal women examined.

  7. Association of ADAM33 gene polymorphisms with allergic asthma

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    Mohammad Reza Zand Karimi

    2014-09-01

    Conclusion: Polymorphisms of ADAM33 gene might be associated with severe asthma and sensitivity to aeroallergens in northeast of Iran, but further studies are needed to determine the polymorphisms in this area and other regions of our country.

  8. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

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    Hamel Christian

    2003-01-01

    Full Text Available Abstract Background X-linked ocular albinism type 1 (OA1 is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8, and a point mutation (310delG in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.

  9. Association of leptin genetic polymorphism -2548 G/A with gestational diabetes mellitus.

    Science.gov (United States)

    Vaskú, Julie Anna Bienertová; Vaskú, Anna; Dostálová, Zuzana; Bienert, Petr

    2006-06-01

    The aim of this study was to investigate possible associations of -2548 G/A polymorphism in leptin gene promoter and pregnancy-associated diseases with abnormal fetal growth such as preeclampsia and gestational diabetes. The study was also focused on whether it is rather maternal or fetal variants that determines the pathological growth status. Peripheral or cord blood samples obtained from 49 preeclamptic women and their 39 newborns, 53 healthy controls and their 53 healthy newborns and 48 patients with gestational diabetes mellitus were evaluated for leptin gene (LEP) locus -2548 genotypes. The significantly higher risk for gestational diabetes mellitus was observed in the presence of an allele (AA and AG genotypes) against carriers of GGgenotype(OR=2.84, 95%CI1.14-7.07,p=0.02). Thereisa significant risk of diabetes mellitus associated to A allele (OR=1.79, 95%CI 1.02-3.14, p=0.03). Furthermore, evaluations of preeclamptic patients' data revealed a significant association of genotype distribution and delivery and spontaneous abortion rate, where the GG carriers performed the highest pregnancy rate while the AG carriers performed the lowest spontaneous abortion rate. Our results support the hypothesis for -2548 G/A leptin gene polymorphism involvement in ethiopathogenesis of pregnancy-associated diseases with abnormal fetal growth, especially gestational diabetes mellitus.

  10. Genetic Polymorphisms Associated to Folate Transport as Predictors of Increased Risk for Acute Lymphoblastic Leukemia in Mexican Children

    Science.gov (United States)

    Zaruma-Torres, Fausto; Lares-Asseff, Ismael; Lima, Aurea; Reyes-Espinoza, Aarón; Loera-Castañeda, Verónica; Sosa-Macías, Martha; Galaviz-Hernández, Carlos; Arias-Peláez, María C.; Reyes-López, Miguel A.; Quiñones, Luis A.

    2016-01-01

    Acute lymphoblastic leukemia (ALL) is a frequent neoplasia occurring in children. The most commonly used drug for the treatment of ALL is methotrexate (MTX), an anti-folate agent. Previous studies suggest that folate transporters play a role in ALL prognosis and that genetic polymorphism of genes encoding folate transporters may increase the risk of ALL. Therefore, the main goal of this study was to determine the associations among six genetic polymorphisms in four genes related with the folate transporter pathway to determine a relationship with the occurrence of ALL in Mexican children. A case-control study was performed in 73 ALL children and 133 healthy children from Northern and Northwestern Mexico. COL18A1 (rs2274808), SLC19A1 (rs2838956), ABCB1 (rs1045642 and rs1128503), and ABCC5 (rs9838667 and rs3792585). Polymorphisms were assayed through qPCR. Our results showed an increased ALL risk in children carrying CT genotype (OR = 2.55, CI 95% 1.11–5.83, p = 0.0001) and TT genotype (OR = 21.05, CI 95% 5.62–78.87, p < 0.0001) of COL18A1 rs2274808; in SLC19A1 rs2838956 AG carriers (OR = 44.69, CI 95% 10.42–191.63, p = 0.0001); in ABCB1 rs1045642 TT carriers (OR = 13.76, CI 95% 5.94–31.88, p = 0.0001); in ABCC5 rs9838667 AC carriers (OR = 2.61, CI 95% 1.05–6.48, p < 0.05); and in ABCC5 rs3792585 CC carriers (OR = 9.99, CI 95% 3.19–31.28, p = 0.004). Moreover, several combinations of genetic polymorphisms were found to be significantly associated with a risk for ALL. Finally, two combinations of ABCC5 polymorphisms resulted in protection from this neoplasia. In conclusion, certain genetic polymorphisms related to the folate transport pathway, particularly COL18A1 rs2274808, SLC19A1 rs2838956, ABCB1 rs1045642, and ABCC5 rs3792585, were associated with an increased risk for ALL in Mexican children. PMID:27547186

  11. Genetic polymorphisms associated to folate transport as predictors of increased risk for acute lymphoblastic leukemia in Mexican children

    Directory of Open Access Journals (Sweden)

    Fausto Zaruma-Torres

    2016-08-01

    Full Text Available Acute lymphoblastic leukemia (ALL is a frequent neoplasia occurring in children. The most commonly used drug for the treatment of ALL is methotrexate (MTX, an anti-folate agent. Previous studies suggest that folate transporters play a role in ALL prognosis and that genetic polymorphism of genes encoding folate transporters may increase the risk of ALL. Therefore, the main goal of this study was to determine the associations among six genetic polymorphisms in four genes related with the folate transporter pathway to determine a relationship with the occurrence of ALL in Mexican children.A case-control study was performed in 73 ALL children and 133 healthy children from Northern and Northwestern Mexico. COL18A1 (rs2274808, SLC19A1 (rs2838956, ABCB1 (rs1045642 and rs1128503 and ABCC5 (rs9838667 and rs3792585. polymorphisms were assayed through qPCR.Our results showed an increased ALL risk in children carrying CT genotype (OR=2.55, CI 95% 1.11-5.83, p=0.0001 and TT genotype (OR=21.05, CI 95% 5.62-78.87, p<0.0001 of COL18A1 rs2274808; in SLC19A1 rs2838956 AG carriers (OR=44.69, CI 95% 10.42-191.63, p=0.0001; in ABCB1 rs1045642 TT carriers (OR=13.76, CI 95% 5.94-31.88, p=0.0001; in ABCC5 rs9838667 AC carriers (OR=2.61, CI 95% 1.05-6.48, p<0.05; and in ABCC5 rs3792585 CC carriers (OR=9.99, CI 95% 3.19-31.28, p=0.004. Moreover, several combinations of genetic polymorphisms were found to be significantly associated with a risk for ALL. Finally, two combinations of ABCC5 polymorphisms resulted in protection from this neoplasia.In conclusion, certain genetic polymorphisms related to the folate transport pathway, particularly COL18A1 rs2274808, SLC19A1 rs2838956, ABCB1 rs1045642 and ABCC5 rs3792585, were associated with an increased risk for ALL in Mexican children.

  12. Peptide-Carrier Conjugation

    DEFF Research Database (Denmark)

    Hansen, Paul Robert

    2015-01-01

    To produce antibodies against synthetic peptides it is necessary to couple them to a protein carrier. This chapter provides a nonspecialist overview of peptide-carrier conjugation. Furthermore, a protocol for coupling cysteine-containing peptides to bovine serum albumin is outlined....

  13. No association of the BDNF val66met polymorphism with implicit associative vocabulary and motor learning.

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    Nils Freundlieb

    Full Text Available Brain-derived neurotrophic factor (BDNF has been suggested to play a major role in plasticity, neurogenesis and learning in the adult brain. The BDNF gene contains a common val66met polymorphism associated with decreased activity-dependent excretion of BDNF and a potential influence on behaviour, more specifically, on motor learning. The objective of this study was to determine the influence of the BDNF val66met polymorphism on short-term implicit associative learning and whether its influence is cognitive domain-specific (motor vs. language. A sample of 38 young healthy participants was genotyped, screened for background and neuropsychological differences, and tested with two associative implicit learning paradigms in two different cognitive domains, i.e., motor and vocabulary learning. Subjects performed the serial reaction time task (SRTT to determine implicit motor learning and a recently established associative vocabulary learning task (AVL for implicit learning of action and object words. To determine the influence of the BDNF polymorphism on domain-specific implicit learning, behavioural improvements in the two tasks were compared between val/val (n = 22 and met carriers (val/met: n = 15 and met/met: n = 1. There was no evidence for an impact of the BDNF val66met polymorphism on the behavioural outcome in implicit short-term learning paradigms in young healthy subjects. Whether this polymorphism plays a relevant role in long-term training paradigms or in subjects with impaired neuronal plasticity or reduced learning capacity, such as aged individuals, demented patients or patients with brain lesions, has to be determined in future studies.

  14. Molecular Variability Within and Among Verticillium dahliae Vegetative Compatibility Groups Determined by Fluorescent Amplified Fragment Length Polymorphism and Polymerase Chain Reaction Markers.

    Science.gov (United States)

    Collado-Romero, Melania; Mercado-Blanco, Jesús; Olivares-García, Concepción; Valverde-Corredor, Antonio; Jiménez-Díaz, Rafael M

    2006-05-01

    ABSTRACT A degree of genetic diversity may exist among Verticillium dahliae isolates within vegetative compatibility groups (VCGs) that bears phytopathological significance and is worth investigating using molecular tools of a higher resolution than VCG characterization. The molecular variability within and among V. dahliae VCGs was studied using 53 artichoke isolates from eastern-central Spain, 96 isolates from cotton, 7 from cotton soil, and 45 from olive trees in countries of the Mediterranean Basin. Isolates were selected to represent the widest available diversity in cotton- and olive-defoliating (D) and -nondefoliating (ND) pathotypes, as well as for VCG. The VCG of 96 cotton and olive isolates was determined in this present study. Molecular variability among V. dahliae isolates was assessed by fluorescent amplified fragment length polymorphism (AFLP) analysis and by polymerase chain reaction (PCR) assays for DNA fragments associated with the D (462 bp) and ND (824 bp) pathotypes, as well as a 334-bp amplicon associated with D pathotype isolates but also present in some VCG2B isolates. Isolates from cotton were in VCG1A, VCG1B, VCG2A, VCG2B, and VCG4B and those from olive trees were in VCG1A, VCG2A, and VCG4B. Artichoke isolates included representatives of VCG1A, VCG2A, VCG2B (including a newly identified VCG2Ba), and VCG4B. AFLP data were used to generate matrixes of genetic distance among isolates for cluster analysis using the neighbor-joining method and for analysis of molecular variance. Results demonstrated that V. dahliae isolates within a VCG subgroup are molecularly similar, to the extent that clustering of isolates correlated with VCG subgroups regardless of the host source and geographic origin. VCGs differed in molecular variability, with the variability being highest in VCG2B and VCG2A. For some AFLP/VCG subgroup clusterings, V. dahliae isolates from artichoke grouped in subclusters clearly distinct from those comprising isolates from cotton and

  15. Hot-Carrier Seebeck Effect: Diffusion and Remote Detection of Hot Carriers in Graphene.

    Science.gov (United States)

    Sierra, Juan F; Neumann, Ingmar; Costache, Marius V; Valenzuela, Sergio O

    2015-06-10

    We investigate hot carrier propagation across graphene using an electrical nonlocal injection/detection method. The device consists of a monolayer graphene flake contacted by multiple metal leads. Using two remote leads for electrical heating, we generate a carrier temperature gradient that results in a measurable thermoelectric voltage V(NL) across the remaining (detector) leads. Due to the nonlocal character of the measurement, V(NL) is exclusively due to the Seebeck effect. Remarkably, a departure from the ordinary relationship between Joule power P and V(NL), V(NL) ∼ P, becomes readily apparent at low temperatures, representing a fingerprint of hot-carrier dominated thermoelectricity. By studying V(NL) as a function of bias, we directly determine the carrier temperature and the characteristic cooling length for hot-carrier propagation, which are key parameters for a variety of new applications that rely on hot-carrier transport.

  16. Hot-Carrier Seebeck Effect: Diffusion and Remote Detection of Hot Carriers in Graphene

    Science.gov (United States)

    Sierra, Juan F.; Neumann, Ingmar; Costache, Marius V.; Valenzuela, Sergio O.

    2015-06-01

    We investigate hot carrier propagation across graphene using an electrical nonlocal injection/detection method. The device consists of a monolayer graphene flake contacted by multiple metal leads. Using two remote leads for electrical heating, we generate a carrier temperature gradient that results in a measurable thermoelectric voltage VNL across the remaining (detector) leads. Due to the nonlocal character of the measurement, VNL is exclusively due to the Seebeck effect. Remarkably, a departure from the ordinary relationship between Joule power P and VNL, VNL ~ P, becomes readily apparent at low temperatures, representing a fingerprint of hot-carrier dominated thermoelectricity. By studying VNL as a function of bias, we directly determine the carrier temperature and the characteristic cooling length for hot-carrier propagation, which are key parameters for a variety of new applications that rely on hot-carrier transport.

  17. Impact of VEGF gene polymorphisms and haplotypes on radiation-induced late toxicity in prostate cancer patients

    Energy Technology Data Exchange (ETDEWEB)

    Langsenlehner, Tanja; Thurner, Eva-Maria; Kapp, Karin S. [Medical Univ. of Graz (Austria). Dept. of Therapeutic Radiology and Oncology; Renner, Wilfried [Medical Univ. of Graz (Austria). Clinical Inst. of Medical and Chemical Lab. Diagnostics; Gerger, Armin; Hofmann, Guenter [Medical Univ. of Graz (Austria). Division of Oncology; Langsenlehner, Uwe [GKK Outpatient Dept. Graz (Austria). Division of Internal Medicine

    2011-12-15

    Vascular endothelial growth factor (VEGF) is an important determinant of microvascular permeability and angiogenesis and has been shown to be up-regulated during the late phase of radiation injury. The present prospective study was performed to evaluate the role of VEGF gene polymorphisms and haplotypes in the development of radiation-induced late side effects in prostate cancer patients. The association of VEGF gene polymorphisms and haplotypes with high-grade late rectal or urinary toxicity (defined as late toxicity EORTC/RTOG {>=}2) was analyzed using 493 prostate cancer patients from the Austrian PROCAGENE study treated with definitive radiotherapy. Seven candidate polymorphisms in the VEGF gene were selected and determined by 5'-nuclease (TaqMan) assays. Within a median follow-up time of 48 months, 42 patients (8.6%) developed high-grade late rectal and 47 patients (9.6%) urinary toxicity, respectively. In a Kaplan-Meier analysis, carriers of the VEGF -7C > T polymorphism were at increased risk of high-grade late rectal toxicity (p = 0.003) and in a multivariate analysis including clinical and dosimetric parameters as potential confounders the VEGF -7C > T polymorphism remained a significant predictor (HR = 2.8, 95% CI 1.349-5.813; p = 0.006). Furthermore, the ATTGT haplotype formed by five polymorphisms upstream of the coding sequence demonstrated a significant association with late rectal toxicity grade {>=}2 (p = 0.001). No significant associations were found for the remaining polymorphisms and haplotypes. We conclude that genetic variants in the VEGF gene may influence the risk of high-grade late rectal toxicity after definitive radiotherapy for prostate cancer.

  18. The influence of a CYP1A2 polymorphism on the ergogenic effects of caffeine

    Directory of Open Access Journals (Sweden)

    Womack Christopher J

    2012-03-01

    Full Text Available Abstract Background Although caffeine supplementation improves performance, the ergogenic effect is variable. The cause(s of this variability are unknown. A (C/A single nucleotide polymorphism at intron 1 of the cytochrome P450 (CYP1A2 gene influences caffeine metabolism and clinical outcomes from caffeine ingestion. The purpose of this study was to determine if this polymorphism influences the ergogenic effect of caffeine supplementation. Methods Thirty-five trained male cyclists (age = 25.0 ± 7.3 yrs, height = 178.2 ± 8.8 cm, weight = 74.3 ± 8.8 kg, VO2max = 59.35 ± 9.72 ml·kg-1·min-1 participated in two computer-simulated 40-kilometer time trials on a cycle ergometer. Each test was performed one hour following ingestion of 6 mg·kg-1 of anhydrous caffeine or a placebo administered in double-blind fashion. DNA was obtained from whole blood samples and genotyped using restriction fragment length polymorphism-polymerase chain reaction. Participants were classified as AA homozygotes (N = 16 or C allele carriers (N = 19. The effects of treatment (caffeine, placebo and the treatment × genotype interaction were assessed using Repeated Measures Analysis of Variance. Results Caffeine supplementation reduced 40 kilometer time by a greater (p Conclusions Results suggest that individuals homozygous for the A allele of this polymorphism may have a larger ergogenic effect following caffeine ingestion.

  19. Brain-derived neurotrophic factor Val66Met polymorphism and early life adversity affect hippocampal volume.

    Science.gov (United States)

    Carballedo, Angela; Morris, Derek; Zill, Peter; Fahey, Ciara; Reinhold, Elena; Meisenzahl, Eva; Bondy, Brigitta; Gill, Michael; Möller, Hans-Jürgen; Frodl, Thomas

    2013-03-01

    The interaction between adverse life events during childhood and genetic factors is associated with a higher risk to develop major depressive disorder (MDD). One of the polymorphisms found to be associated with MDD is the Val66MET polymorphism of brain-derived neurotrophic factor (BDNF). The aim of our two-center study was to determine how the BDNF Val66Met polymorphism and childhood adversity affect the volumetric measures of the hippocampus in healthy individuals and people with MDD. In this two-center study, 62 adult patients with MDD and 71 healthy matched controls underwent high-resolution magnetic resonance imaging. We used manual tracing of the bilateral hippocampal structure with help of the software BRAINS2, assessed childhood adversity using the Childhood Trauma Questionnaire and genotyped Val66Met BDNF SNP (rs6265). MDD patients had smaller hippocampal volumes, both in the left and right hemispheres (F = 5.4, P = 0.022). We also found a significant interaction between BDNF allele and history of childhood adversity (F = 6.1, P = 0.015): Met allele carriers in our samples showed significantly smaller hippocampal volumes when they did have a history of childhood adversity, both in patients and controls. Our results highlight how relevant stress-gene interactions are for hippocampal volume reductions. Subjects exposed to early life adversity developed smaller hippocampal volumes when they carry the Met-allele of the BDNF polymorphism.

  20. Vitamin D receptor polymorphisms and 25-hydroxyvitamin D in a group of Sicilian multiple sclerosis patients.

    Science.gov (United States)

    Agnello, Luisa; Scazzone, C; Ragonese, P; Salemi, G; Lo Sasso, B; Schillaci, R; Musso, G; Bellia, C; Ciaccio, M

    2016-02-01

    Multiple sclerosis (MS) is an auto-immune disease whose etiology remains controversial. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of our study was to assess the association of Vitamin D receptor (VDR) polymorphisms with MS and to investigate the interaction of these polymorphisms with vitamin D levels. A total of 179 Sicilian subjects, including 104 MS patients and 75 healthy controls, were studied. The most common VDR polymorphisms (Fok-I, Bsm-I, Taq-I and Apa-I) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25-hydroxyvitamin D [25(OH)D] levels were determined in MS patients by high-performance liquid chromatography (HPLC). The distribution of genotype and allele frequencies of the four VDR polymorphisms did not differ significantly between MS patients and healthy controls, and were unrelated to the forms and the course of MS. Low serum levels of 25(OH)D were observed in MS patients but no association was observed between VDR and 25(OH)D levels except for Fok-I. Moreover, MS patients with FF and Ff genotype had a significantly lower serum levels of 25(OH)D compared with ff carriers (P < 0.05 FF vs Ff and Ff vs ff). Our findings showed no association between VDR polymorphisms and risk of MS. Interestingly, F allele could confer a genetic predisposition to lower 25(OH)D levels.

  1. TP53 codon 72 polymorphism as a risk factor for cardiovascular disease in a Brazilian population

    Directory of Open Access Journals (Sweden)

    M.A.C. Smith

    2007-11-01

    Full Text Available TP53, a tumor suppressor gene, has a critical role in cell cycle, apoptosis and cell senescence and participates in many crucial physiological and pathological processes. Identification of TP53 polymorphism in older people and age-related diseases may provide an understanding of its physiology and pathophysiological role as well as risk factors for complex diseases. TP53 codon 72 (TP53:72 polymorphism was investigated in 383 individuals aged 66 to 97 years in a cohort from a Brazilian Elderly Longitudinal Study. We investigated allele frequency, genotype distribution and allele association with morbidities such as cardiovascular disease, type II diabetes, obesity, neoplasia, low cognitive level (dementia, and depression. We also determined the association of this polymorphism with serum lipid fractions and urea, creatinine, albumin, fasting glucose, and glycated hemoglobin levels. DNA was isolated from blood cells, amplified by PCR using sense 5'-TTGCCGTCCCAAGCAATGGATGA-3' and antisense 5'-TCTGGGAAGGGACAGAAGATGAC-3' primers and digested with the BstUI enzyme. This polymorphism is within exon 4 at nucleotide residue 347. Descriptive statistics, logistic regression analysis and Student t-test using the multiple comparison test were used. Allele frequencies, R (Arg = 0.69 and P (Pro = 0.31, were similar to other populations. Genotype distributions were within Hardy-Weinberg equilibrium. This polymorphism did not show significant association with any age-related disease or serum variables. However, R allele carriers showed lower HDL levels and a higher frequency of cardiovascular disease than P allele subjects. These findings may help to elucidate the physiopathological role of TP53:72 polymorphism in Brazilian elderly people.

  2. Endothelial Nitric Oxide Synthase G894T Polymorphism Associates with Disease Severity in Puumala Hantavirus Infection.

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    Sirpa Koskela

    Full Text Available Hantavirus infections are characterized by both activation and dysfunction of the endothelial cells. The underlying mechanisms of the disease pathogenesis are not fully understood. Here we tested the hypothesis whether the polymorphisms of endothelial nitric oxide synthase, eNOS G894T, and inducible nitric oxide synthase, iNOS G2087A, are associated with the severity of acute Puumala hantavirus (PUUV infection.Hospitalized patients (n = 172 with serologically verified PUUV infection were examined. Clinical and laboratory variables reflecting disease severity were determined. The polymorphisms of eNOS G894T (Glu298Asp, rs1799983 and iNOS G2087A (Ser608Leu, rs2297518 were genotyped.The rare eNOS G894T genotype was associated with the severity of acute kidney injury (AKI. The non-carriers of G-allele (TT-homozygotes had higher maximum level of serum creatinine than the carriers of G-allele (GT-heterozygotes and GG-homozygotes; median 326, range 102-1041 vs. median 175, range 51-1499 μmol/l; p = 0.018, respectively. The length of hospital stay was longer in the non-carriers of G-allele than in G-allele carriers (median 8, range 3-14 vs. median 6, range 2-15 days; p = 0.032. The rare A-allele carriers (i.e. AA-homozygotes and GA-heterozygotes of iNOS G2087A had lower minimum systolic and diastolic blood pressure than the non-carriers of A-allele (median 110, range 74-170 vs.116, range 86-162 mmHg, p = 0.019, and median 68, range 40-90 vs. 72, range 48-100 mmHg; p = 0.003, respectively.Patients with the TT-homozygous genotype of eNOS G894T had more severe PUUV-induced AKI than the other genotypes. The eNOS G894T polymorphism may play role in the endothelial dysfunction observed during acute PUUV infection.

  3. The rs2516839 Polymorphism of the USF1 Gene May Modulate Serum Triglyceride Levels in Response to Cigarette Smoking

    Directory of Open Access Journals (Sweden)

    Pawel Niemiec

    2015-06-01

    Full Text Available Single nucleotide polymorphisms (SNPs of the USF1 gene (upstream stimulatory factor 1 influence plasma lipid levels. This study aims to determine whether USF1 SNPs interact with traditional risk factors of atherosclerosis to increase coronary artery disease (CAD risk. In the present study serum lipid levels and USF1 gene polymorphisms (rs2516839 and rs3737787 were determined in 470 subjects: 235 patients with premature CAD and 235 controls. A trend of increasing triglycerides (TG levels in relation to the C allele dose of rs2516839 SNP was observed. The synergistic effect of cigarette smoking and C allele carrier state on CAD risk was also found (SIM = 2.69, p = 0.015. TG levels differentiated significantly particular genotypes in smokers (1.53 mmol/L for TT, 1.80 mmol/L for CT and 2.27 mmol/L for CC subjects. In contrast, these differences were not observed in the non-smokers subgroup (1.57 mmol/L for TT, 1.46 mmol/L for CT and 1.49 mmol/L for CC subjects. In conclusion, the rs2516839 polymorphism may modulate serum triglyceride levels in response to cigarette smoking. Carriers of the C allele seem to be particularly at risk of CAD, when exposed to cigarette smoking.

  4. The rs2516839 Polymorphism of the USF1 Gene May Modulate Serum Triglyceride Levels in Response to Cigarette Smoking.

    Science.gov (United States)

    Niemiec, Pawel; Nowak, Tomasz; Iwanicki, Tomasz; Gorczynska-Kosiorz, Sylwia; Balcerzyk, Anna; Krauze, Jolanta; Grzeszczak, Wladyslaw; Wiecha, Maria; Zak, Iwona

    2015-06-10

    Single nucleotide polymorphisms (SNPs) of the USF1 gene (upstream stimulatory factor 1) influence plasma lipid levels. This study aims to determine whether USF1 SNPs interact with traditional risk factors of atherosclerosis to increase coronary artery disease (CAD) risk. In the present study serum lipid levels and USF1 gene polymorphisms (rs2516839 and rs3737787) were determined in 470 subjects: 235 patients with premature CAD and 235 controls. A trend of increasing triglycerides (TG) levels in relation to the C allele dose of rs2516839 SNP was observed. The synergistic effect of cigarette smoking and C allele carrier state on CAD risk was also found (SIM = 2.69, p = 0.015). TG levels differentiated significantly particular genotypes in smokers (1.53 mmol/L for TT, 1.80 mmol/L for CT and 2.27 mmol/L for CC subjects). In contrast, these differences were not observed in the non-smokers subgroup (1.57 mmol/L for TT, 1.46 mmol/L for CT and 1.49 mmol/L for CC subjects). In conclusion, the rs2516839 polymorphism may modulate serum triglyceride levels in response to cigarette smoking. Carriers of the C allele seem to be particularly at risk of CAD, when exposed to cigarette smoking.

  5. Carrier scattering in metals and semiconductors

    CERN Document Server

    Gantmakher, VF

    1987-01-01

    The transport properties of solids, as well as the many optical phenomena in them are determined by the scattering of current carriers. ``Carrier Scattering in Metals and Semiconductors'' elucidates the state of the art in the research on the scattering mechanisms for current carriers in metals and semiconductors and describes experiments in which these mechanisms are most dramatically manifested.The selection and organization of the material is in a form to prepare the reader to reason independently and to deal just as independently with available theoretical results and experimental

  6. Composite cam carrier

    Energy Technology Data Exchange (ETDEWEB)

    Wicks, Christopher Donald; Madin, Mark Michael

    2017-03-14

    A cam carrier assembly includes a cylinder head having valves and a camshaft having lobes. A cam carrier has a first side coupled with the cylinder head engaging around the valves and a second side with bearing surfaces supporting the camshaft. A series of apertures extend between the first and second sides for the lobes to interface with the valves. The cam carrier is made of carbon fiber composite insulating the camshaft from the cylinder head and providing substantial weight reduction to an upper section of an associated engine.

  7. Asymmetric Carrier Random PWM

    DEFF Research Database (Denmark)

    Mathe, Laszlo; Lungeanu, Florin; Rasmussen, Peter Omand;

    2010-01-01

    This paper presents a new fixed carrier frequency random PWM method, where a new type of carrier wave is proposed for modulation. Based on the measurements, it is shown that the spread effect of the discrete components from the motor current spectra is very effective independent of the modulation...... index. The flat motor current spectrum generates an acoustical noise close to the white noise, which may improve the acoustical performance of the drive. The new carrier wave is easy to implement digitally, without employing any external circuits. The modulation method can be used in open, as well...

  8. The moderating role of an oxytocin receptor gene polymorphism in the relation between unsupportive social interactions and coping profiles: Implications for depression

    Directory of Open Access Journals (Sweden)

    Opal Arilla Mcinnis

    2015-08-01

    Full Text Available Oxytocin is a hormone that is thought to influence prosocial behaviors and may be important in modulating responses to both positive and negative social interactions. Indeed, a single nucleotide polymorphism (SNP of the oxytocin receptor gene (OXTR has been associated with decreased trust, empathy, optimism and social support seeking, which are important components of coping with stressors. In the current study, conducted among undergraduate students (N=225, it was shown that parental and peer social support was related to fewer depressive symptoms through elevated problem-focused coping and lower emotion-focused coping, and these effects were independent of the OXTR polymorphism. Unsupportive social interactions from parents were associated with more severe depressive symptoms through the greater use of emotion-focused coping, and this relation was moderated by the OXTR genotype. Specifically, individuals who carried the polymorphism on one or both of their alleles demonstrated increased emotion-focused coping following unsupportive responses compared to those without the polymorphism. Likewise, lower problem-focused coping mediated the relation between parental and peer unsupportive responses to depressive symptoms, but this mediated relation was only evident among carriers of the polymorphism. These findings suggest that carrying this OXTR polymorphism might favor disadvantageous coping styles in the face of negative social interactions, which in turn are linked to poor mood. Regardless of genotype, parental and peer social support are fundamental in determining stress-related coping and well-being.

  9. Association of catechol-O-methyltransferase Val(108/158) Met genetic polymorphism with schizophrenia, P50 sensory gating, and negative symptoms in a Chinese population.

    Science.gov (United States)

    Mao, Qiao; Tan, Yun-Long; Luo, Xing-Guang; Tian, Li; Wang, Zhi-Ren; Tan, Shu-Ping; Chen, Song; Yang, Gui-Gang; An, Hui-Mei; Yang, Fu-De; Zhang, Xiang-Yang

    2016-08-30

    Catechol-O-methyltransferase (COMT), an enzyme involved in the degradation and inactivation of the neurotransmitter dopamine, is associated with the sensory gating phenomenon, protecting the cerebral cortex from information overload. The COMT Val(108/158)Met polymorphism is essential for prefrontal cortex processing capacity and efficiency. The current study was designed to investigate the role of COMT Val(108/158)Met polymorphism in development, sensory gating deficit, and symptoms of schizophrenia in Han Chinese population. P50 gating was determined in 139 schizophrenic patients and 165 healthy controls. Positive and Negative Syndrome Scale (PANSS) was used to assess the clinical symptomatology in 370 schizophrenic subjects. COMT Val(108/158)Met polymorphism was genotyped by PCR-restriction fragment length polymorphism (PCR-RFLP). No significant differences in COMT allele and genotype distributions were observed between schizophrenic patients and control groups. Although P50 deficits were present in patients, there was no evidence for an association between COMT Val(108/158)Met polymorphism and the P50 biomarker. Moreover, PANSS negative subscore was significantly higher in Val allele carriers than in Met/Met individuals. The present findings suggest that COMT Val(108/158)Met polymorphism may not contribute to the risk of schizophrenia and to the P50 deficits, but may contribute to the negative symptoms of schizophrenia among Han Chinese.

  10. 载噪比加权的GPS单频单历元定姿算法%Carrier to Noise Ratio Weighted Algorithm in GPS Single Epoch Single Frequency Attitude Determination

    Institute of Scientific and Technical Information of China (English)

    金天; 原青; 郑光辉; 张立杨; 张军

    2014-01-01

    In GPS attitude determination system to deal with the problem that the traditional elevation weighted algorithm can’t reflect the situation of occlusion effectively,the accuracy of carrier phase by the satellite carrier to noise ratio of receiver is analyzed in this paper,and a new algorithm based on weighted matrixW is proposed.In the new algorithm,the leastGsquares (ILS)are used to estimate ambiguity and baseline vector.The proposed algorithm can improve the success rate under situation when satellite signal is weak and precision of carrier phase is low.By comparative experiments,it is verified the rationality and effectiveness of the proposed algorithm.Simulation results show that the proposed CN0 weighted algorithm can increase the success rate of single epoch attitude determination by 5 percent compared to the traditional algorithm,1~2 percent compared to the elevation weighted algorithm.%针对GPS定姿系统中,传统的利用高度角的加权不能有效反映遮挡情况的问题,从接收机的卫星载噪比出发,对载波相位精度进行分析,提出新的权重矩阵W,对观测模型进行加权。加权后模型根据最小二乘得到整周模糊度和基线矢量的浮点解。加权方法能够降低弱信号卫星的载波相位观测值对姿态测量成功率的影响。通过对比试验验证了加权算法的合理性和有效性。部分试验结果表明,相比于未加权算法,载噪比加权算法可以使单历元定姿成功率提高5个百分点;相比于高度角加权算法,载噪比加权可以使成功率提高1~2个百分点。

  11. Distinct role of the Fas rs1800682 and FasL rs763110 polymorphisms in determining the risk of breast cancer among Han Chinese females

    Science.gov (United States)

    Wang, Meng; Wang, Zheng; Wang, Xi-Jing; Jin, Tian-Bo; Dai, Zhi-Ming; Kang, Hua-Feng; Guan, Hai-Tao; Ma, Xiao-Bin; Liu, Xing-Han; Dai, Zhi-Jun

    2016-01-01

    Background In recent years, studies have demonstrated that polymorphisms in the promoters of Fas and FasL are significantly associated with breast cancer risk. However, the results of these studies were inconsistent. This case–control study was performed to explore the associations between Fas rs1800682 and FasL rs763110 polymorphisms and breast cancer. Materials and methods A hospital-based case–control study of 560 Han Chinese females with breast cancer (583 controls) was conducted. The MassARRAY system was used to search for a possible association between the disease risk and the two single nucleotide polymorphisms, Fas rs1800682 and FasL rs763110. Statistical analyses were performed using SNPStats software to conduct Pearson’s chi-square tests in five different genetic models. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated after adjustment to age and body mass index. PHASE v2.1 software was used to reconstruct all common haplotypes. Results A statistically significant association was found between Fas rs1800682 and increased breast cancer risk (AG vs AA: OR =1.37, 95% CI =1.06–1.78; AA+AG vs GG: OR =1.32, 95% CI =1.04–1.66), and also it was found that the FasL rs763110 polymorphism may decrease the risk. Stratified analyses demonstrated that the rs763110 polymorphism was associated with lower breast cancer risk among postmenopausal females (heterozygote model: OR =0.69, 95% CI =0.49–0.97; dominant model: OR =0.70, 95% CI =0.51–0.96). The T allele of rs763110 was also associated with a decreased risk of lymph node metastasis (allele model: OR =0.75, 95% CI =0.57–0.97) and an increased risk of the breast cancer being human epidermal growth factor receptor 2 positive (allele model: OR =1.37, 95% CI =1.03–1.18). Moreover, haplotype analysis showed that Ars1800682Trs763110 was associated to a statistically significant degree with lower risk of breast cancer (OR =0.70, 95% CI =0.53–0.91). Conclusion These data suggest that

  12. Coexistence of hepatitis B surface antigen (HBs Ag) and anti-HBs antibodies in chronic hepatitis B virus carriers: influence of "a" determinant variants.

    Science.gov (United States)

    Lada, Olivier; Benhamou, Yves; Poynard, Thierry; Thibault, Vincent

    2006-03-01

    In chronic hepatitis B (CHB), the persistence of hepatitis B surface antigen (HBs Ag) is sometimes associated with antibodies (Ab) to HBs (anti-HBs). To assess the hypothesis of the selection of HBs Ag immune escape variants in CHB patients, the variability of the HBV S gene was determined for patients persistently carrying both HBs Ag and anti-HBs antibodies and patients solely positive for HBs Ag. We selected 14 patients who presented both markers (group I) in several consecutive samples and 12 patients positive for HBs Ag only (group II). The HBs Ag-encoding gene was amplified and cloned, and at least 15 clones per patient were sequenced and analyzed. The number of residue changes within the S protein was 2.7 times more frequent for group I than for group II patients and occurred mostly in the "a" determinant of the major hydrophilic region (MHR), with 9.52 versus 2.43 changes per 100 residues (P = 0.009), respectively. Ten patients (71%) from group I, but only three (25%) from group II, presented at least two residue changes in the MHR. The most frequent changes in group I patients were located at positions s145, s129, s126, s144, and s123, as described for immune escape variants. In CHB patients, the coexistence of HBs Ag and anti-HBs Ab is associated with an increase of "a" determinant variability, suggesting a selection of HBV immune escape mutants during chronic carriage. The consequences of this selection process with regard to vaccine efficacy, diagnosis, and clinical evolution remain partially unknown.

  13. Interleukin-6 (-174G>C promoter polymorphism in patients infected by hepatitis B virus

    Directory of Open Access Journals (Sweden)

    Seref Demirbas

    2012-04-01

    Full Text Available Objective: Hepatitis B virus (HBV infection is one of the most important health problems in the world. Interleukin-6 (IL-6 has been shown to be a major inflammatory cytokine, inducing cell proliferation and expression of acute response genes, such as fibrinogen and C-reactive protein in hepatocytes. IL-6 levels are elevated in patients acutely infected with HBV and have been associated with progression of infection to chronic hepatitis. Methods: In the present study, the role of IL-6 (-174G/C polymorphism was investigated on individuals which are diagnosed as hepatitis B virus carrier (n=19, chronic hepatitis (n=10 and cirrhosis (n=13, and non-infected individuals with HBV (n=8. In order to determine IL-6 polymorphism, the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP method was applied using genomic DNA extracted from paraffin embedded liver needle biopsy specimens. Results: The genotype frequencies in 50 samples were observed as follows: 76% homozygote typical (GG, 22% heterozygote (GC and 2% homozygote atypical (CC. In this study, limited statistical association was observed between IL-6 polymorphism (GG, GC and CC genotype and chronic hepatitis/cirrhosis compared to hepatitis B virus carriers and non-infected individuals with HBV (p=0.045. Conclusion: As observed in only one patient with chronic hepatitis, IL-6 (-174C/C genotype is very rare in this study group. Because of lower frequency of -174C/C phenotype, studies in larger series can give statistically more precise conclusions. [J Exp Integr Med 2012; 2(2.000: 173-177

  14. Relationship of plasminogen activator inhibitor 1 gene 4G/5G polymorphisms to hypertension in Korean women

    Institute of Scientific and Technical Information of China (English)

    Kyu-nam Kim; Kwang-min Kim; Bom-taeck Kim; Nam-seok Joo; Doo-yeoun Cho; Duck-joo Lee

    2012-01-01

    Background Hypertension (HTN) is a major determinant of various cardiovascular events.Plasma levels of plasminogen activator inhibitor 1 (PAl-1) modulate this risk.A deletion/insertion polymorphism within the PAl-1 loci (4G/4G,4G/5G,5G/5G) affects the expression of this gene.The present study investigated the association between PAl-1 loci polymorphisms and HTN in Korean women.@@Methods Korean women (n=1312) were enrolled in this study to evaluate the association between PAl-1 4G/5G gene polymorphisms and HTN as well as other metabolic risk factors.PAl-1 loci polymorphisms were investigated using polymerase chain reaction amplification and single-strand conformation polymorphism analysis.@@Results The three genotype groups differed with respect to systolic blood pressure (P=0.043),and diastolic blood pressure (P=0.009) but not with respect to age,body mass index,total cholesterol,low or high density lipoprotein cholesterol,triglycerides,or fasting blood glucose.Carriers of the PAl-1 4G allele had more hypertension significantly (PAl-1 4G/5G vs.PAl-1 5G/5G,P=0.032; PAl-1 4G/4G vs.PAl-1 5G/5G,P=0.034).When stratified according to PAl-1 4G/5G polymorphism,there was no significant difference in all metabolic parameters among PAl-1 genotype groups in patients with HTN as well as subjects with normal blood pressure.The estimated odds ratio of the 4G/4G genotype and 4G/5G for HTN was 1.7 (P=0.005),and 1.6 (P=0.015),respectively.@@Conclusion These findings might indicate that PAl-1 loci polymorphisms independently contribute to HTN and that gene-environmental interaction may be not associated in Korean women.

  15. Interactions between rs5498 polymorphism in the ICAM1 gene and traditional risk factors influence susceptibility to coronary artery disease.

    Science.gov (United States)

    Sarecka-Hujar, Beata; Zak, Iwona; Krauze, Jolanta

    2009-06-01

    Coronary artery disease (CAD) depends on multiple genetic and environmental factors. Adhesion molecules are markers of endothelium dysfunction. Intercellular adhesion molecule-1 (ICAM-1) interacts with leukocyte integrins and promotes atherosclerotic process at the surface of endothelial cells. The aim of the study was to assess the association between ICAM1 rs5498 polymorphism and CAD and to establish whether there are any interactions between this polymorphism and traditional risk factors in determining the risk of CAD. We studied 191 cases with angiographically documented CAD and 203 controls with no signs of cardiovascular diseases. The ICAM1 polymorphism was genotyped using PCR-RFLP method. Data were analyzed with the STATISTICA 7.1 and EpiInfo 6 softwares. We did not observe significant differences in the distribution of genotypes and alleles of rs5498 between cases and controls. We only found a tendency to a higher prevalence of G allele carriers (AG + GG) in patients compared to controls (68 vs. 64%, P = 0.399). A synergistic effect of G allele carrier-state and smoking that had influenced the risk of CAD [synergy index multiplicative (SIM = 2.09)] was observed. Smoking carriers of G allele compared to non-smoking AA were more prevalent in CAD group (39.8%) than among controls (13.3%, P < 0.0001, OR 4.81). Moreover, there was also a synergistic effect between G allele carrier-state and an elevated level of triacylglycerols (TG) (SIM = 1.28) increasing the risk of CAD. There is a synergistic interaction between rs5498 genotype and smoking that increases the risk of CAD.

  16. Photoinduced Transformation between Charge Carrier and Spin Carrier in Polymers

    Institute of Scientific and Technical Information of China (English)

    MEI Yuan; ZHAO Chang; SUN Xin

    2006-01-01

    By dynamical simulations, we show a transforming process between neutral soliton (spin carrier) and charged soliton (charge carrier) in polymers via photo-excitation, taking a polaron as the transitional bridge. It is photoinduced transformation between spin carrier and charge carrier. In this way, we demonstrate an access for polymers to be applied to spintronics.

  17. Single Antenna GPS Carrier Amplitude Based Rolling Angle Determination of Spinning Vehicle%基于单天线GPS载波幅度的旋转载体滚转角测量

    Institute of Scientific and Technical Information of China (English)

    李耀军; 张江华; 费涛; 崔念; 尚煜

    2014-01-01

    Traditional rolling angle and rolling rate measurement are costly and merely applied by high value plat-forms. In order to reduce cost, rolling angle determination method based on GPS signal is put forward. Rolling an-gle measurement by using GPS carrier phase and amplitude are the two main techniques used for attitude determina-tion. An approach to achieve high precision measurement of rolling angle and rolling rate of spinning vehicle with low cost is presented, that is, directly obtain I/Q signal amplitude signature of carrier for navigation by using single antenna GPS satellite receiver hardware correlator, and a rolling angle filter based on extended Kalman filtering ( EKF) is designed to estimate and track carrier frequency by using amplitude signature of carrier I/Q signals, so as to calculate rolling angle and rolling rate of spinning vehicle precisely. Actual test results show that, for using only amplitude information of I/Q signals, rolling rate and rolling angle of spinning vehicle can be calculated in real-time by using proposed method, and calculation accuracy can meet requirements of most practical applications.%传统的载体滚转角和转速测量方法成本高昂且仅限于高价值平台,为降低成本利用GPS信号测量滚转角的方法日益受到关注。将GPS载波信号的相位和幅度信息用于姿态测量,是目前旋转平台基于GPS测姿的两类主要方法。为了实现旋转载体的低成本高精度滚转角和转速测量,本文提出了单天线结构的利用GPS卫星接收机硬件相关器直接输出的导航用载波I/Q信号幅度特性,设计基于EKF的滚转角滤波器,利用载波I/Q信号的幅度特性对载波频率进行估计与跟踪,从而实现旋转载体的滚转角和转速的精确计算。实测数据试验表明,对于旋转载体仅利用卫星载波I/Q信号的幅度信息,本文提出的算法即可实时计算出旋转载体的滚转角和转速,且计算精度能够

  18. Improved charge carrier lifetime in planar perovskite solar cells by bromine doping

    OpenAIRE

    Kiermasch, David; Rieder, Philipp; Tvingstedt, Kristofer; Baumann, Andreas; Dyakonov, Vladimir

    2016-01-01

    The charge carrier lifetime is an important parameter in solar cells as it defines, together with the mobility, the diffusion length of the charge carriers, thus directly determining the optimal active layer thickness of a device. Herein, we report on charge carrier lifetime values in bromine doped planar methylammonium lead iodide (MAPbI3) solar cells determined by transient photovoltage. The corresponding charge carrier density has been derived from charge carrier extraction. We found incre...

  19. Physicochemical characterization of D-mannitol polymorphs: the challenging surface energy determination by inverse gas chromatography in the infinite dilution region.

    Science.gov (United States)

    Cares-Pacheco, M G; Vaca-Medina, G; Calvet, R; Espitalier, F; Letourneau, J-J; Rouilly, A; Rodier, E

    2014-11-20

    Nowadays, it is well known that surface interactions play a preponderant role in mechanical operations, which are fundamental in pharmaceutical processing and formulation. Nevertheless, it is difficult to correlate surface behaviour in processes to physical properties measurement. Indeed, most pharmaceutical solids have multiple surface energies because of varying forms, crystal faces and impurities contents or physical defects, among others. In this paper, D-mannitol polymorphs (α, β and δ) were studied through different characterization techniques highlighting bulk and surface behaviour differences. Due to the low adsorption behaviour of β and δ polymorphs, special emphasis has been paid to surface energy analysis by inverse gas chromatography, IGC. Surface energy behaviour has been studied in Henry's domain showing that, for some organic solids, the classical IGC infinite dilution zone is never reached. IGC studies highlighted, without precedent in literature, dispersive surface energy differences between α and β mannitol, with a most energetically active α form with a γ(s)(d) of 74.9 mJ·m⁻². Surface heterogeneity studies showed a highly heterogeneous α mannitol with a more homogeneous β (40.0 mJ·m⁻²) and δ mannitol (40.3 mJ·m⁻²). Moreover, these last two forms behaved similarly considering surface energy at different probe concentrations.

  20. The value of energy carriers

    NARCIS (Netherlands)

    Gool, W. van

    1987-01-01

    The value of energy carriers can be described thermodynamically by the amount of heat (enthalpy method) or work (exergy or availability method) that can be obtained from the carriers. Prices for energy carriers are used in economics to express their values. The prices for energy carriers are often r

  1. Chemokine system polymorphisms,survival and hepatocellular carcinoma occurrence in patients with hepatitis C virus-related cirrhosis

    Institute of Scientific and Technical Information of China (English)

    Pierre Nahon; Angela Sutton; Pierre Rufat; Chantal Simon; Jean-Claude Trinchet; Liliane Gattegno; Michel Beaugrand; Nathalie Charnaux

    2008-01-01

    AIM:To explore the influence of polymorphisms in genes encoding for the chemokines Stromal cell-Derived Factor-1 (SDF-1)/CXCL12 and Monocyte Chemotactic Protein-1 (MCP-1)/CCL2,or for the chemokine receptor CCR5 on the risks of liver-related death and hepatocellular carcinoma (HCC) occurrence in hepatitis C virus (HCV)-infected patients.METHODS:SDF-1 3'A,MCP-1 (-2518) and CCR5-⊿32 polyrnorphisms,SDF-1α,Regulated upon Activation Normal T cells Expressed and Secreted (RANTES)/CCL5 and MCP-1 serum levels were determined in 120 HCV-infected patients,included at time of cirrhosis diagnosis and prospectively followed-up.RESULTS:During follow-up,23/120 (19.1%) patients died and 47/120 (39.1%) developed HCC.Carriers and noncarriers of each genetic marker had similar baseline characteristics estimating the severity of liver disease.The occurrence of death or HCC during follow-up was similar among carriers and noncarriers of each polymorphism.There was no association between the carriage of mutated alleles and chernokine serum levels and the latter were not associated with the risks of death or HCC.CONCLUSION:This study suggests the lack of association of SDF-1 3'A,MCP-1 (-2518),CCRS-⊿32 polymorphisms with death and HCC occurrence in cirrhotic HCV-infected patients.

  2. Apolipoprotein AI gene polymorphisms and risk for coronary artery disease in Chinese Xinjiang Uygur and Han population

    Institute of Scientific and Technical Information of China (English)

    杨胜利; 何秉贤; 洪秀芳; 邹阳春; 刘明军

    2001-01-01

    Objective To analyze the relationship between polymorphism at the Apolipoprotein AI (Apo AI) gene and the risk for coronary artery disease. Methods A total of 107 patients (mean age 56 ± 11 years) diagnosed as having stable angina pectoris (SAP) (23 cases), unstable angina pectoris (UAP)(23 cases) or myocardial infarction (MI) (61 cases)were prospectively evaluated. DNA was obtained from the 107 patients and 50 controls. In order to determine the Apo AI genotypes at two polymorphic sites (G/A at -75 bp, and C/T at +83 bp), DNA was PCR amplified and digested with MspI. Results The frequency of carriers of the rare allele at the - 75 bp site (M1-) was 0.49 in cases and 0.30 in controls ( P< 0.05). The frequencies of the M 1 - allele among patients with SAP, UAP, MI and controls were 0. 37 (vs. Controls, P > 0.05), 0. 54 (vs. Controls, P <0.05), 0.52 (vs. Controls, P< 0.05) and 0.30, respectively. The frequencies for carriers of the rare allele at the + 83bp polymorphism (M2) were observed among patients with SAP (0.09, vs. Controls, P >0.05), UAP (0. 11, vs. Controls, P > 0.05) or MI (0.12, vs. Controls, P > 0.05) and controls (0. 12).There was an slightly increase in the frequency of the M1 - allele in patients with SAP to UAP or MI (0.37vs. 0.54 vs. 0.52; all P > 0.05) and M1 polymorphism as a risk factor for CAD (OR=3.74, P <0.05). In the + 83bp polymorphism there was no difference in the allelelic frequencies in cases and controls (0. 11 vs. 0. 12; P > 0.05). There was no significant difference in the frequency of the M2- allele in patients with SAP to UAP or MI (0.09 vs. 0.11 vs.0. 12; all P > 0. 05) and M2 polymorphism not as a factor for CAD ( OR = 0. 80, P > 0. 05) Plasma lipoprotein values in patients with the allele M1 - and M2 - had no different levels than those homozygous for the M1+ andM2+ (P> 0.05). Conclusion M1polymorphism (M1 - ) may be as a risk factor for CAD and M2 polymorphism (M2 - ) not as a factor for CAD in Chinese

  3. Prion Protein M129V Polymorphism Affects Retrieval-Related Brain Activity

    Science.gov (United States)

    Buchmann, Andreas; Mondadori, Christian R. A.; Hanggi, Jurgen; Aerni, Amanda; Vrticka, Pascal; Luechinger, Roger; Boesiger, Peter; Hock, Christoph; Nitsch, Roger M.; de Quervain, Dominique J.-F.; Papassotiropoulos, Andreas; Henke, Katharina

    2008-01-01

    The prion protein Met129Val polymorphism has recently been related to human long-term memory with carriers of either the 129[superscript MM] or the 129[superscript MV] genotype recalling 17% more words than 129[superscript VV] carriers at 24 h following learning. Here, we sampled genotype differences in retrieval-related brain activity at 30 min…

  4. Wuestite - a solar energy carrier

    Energy Technology Data Exchange (ETDEWEB)

    Weidenkaff, A.; Nueesch, P.; Wokaun, A. [Paul Scherrer Inst. (PSI), Villigen (Switzerland); Reller, A. [Hamburg Univ., Hamburg (Germany)

    1997-06-01

    Hydrogen is produced when Wuestite (Fe{sub 1-y}O) is oxidised by water. This reaction is part of a two-step thermochemical metal oxide cycle for the storage of solar energy in the form of chemical energy carriers, characterised by a high chemical potential. The reaction was studied in a tubular furnace with on-line gas analysis and further characterised in detail by DTA und high-temperature X-ray powder diffraction. The influence of non-stoichiometry, morphology and temperature on the mechanism and kinetics of the water-splitting reaction was determined. (author) 3 figs., tabs., 3 refs.

  5. Relationship between reduced nicotinamide adenine dinucleotide phosphate oxidase subunit p22phox gene polymorphism and obstructive sleep apnea-hypopnea syndrome in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    LIU Hui-guo; LIU Kui; ZHOU Yan-ning; XU Yong-jian

    2009-01-01

    Background Increased production of reactive oxygen species (ROS) is thought to play a major role in the pathogenesis of obstructive sleep apnea-hypopnea syndrome (OSAHS). The reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex is an important source of ROS. The p22phox subunit is polymorphic with a C242T variant that changes histidine-72 for a tyrosine in the potential heme binding site. This study aimed to investigate the relationship between NADPH oxidase subunit p22phox gene polymorphism and OSAHS. Methods The genotypes of p22phox polymorphism were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) assay in 176 unrelated subjects of the Han population in southern region of China (including 107 OSAHS subjects and 69 non-OSAHS subjects), while the plasma concentration of superoxide dismutase (SOD) was detected in the two groups, and p22phox mRNA expression in peripheral blood mononuclear cell (PBMC) was determined with reverse transcription polymerase chain reaction (RT-PCR).Results The phagocyte NADPH oxidase subunit p22phox mRNA expression was significantly increased in the OSAHS group than that in the non-OSAHS group (P<0.01). Compared with the non-OSAHS control group ((85.31±9.23) U/ml), the levels of SOD were lower in patients with OSAHS ((59.65±11.61) U/ml (P<0.01). There were significant differences in genotypes distribution in p22phox polymorphism between the two groups (P=0.02). Compared with the non-OSAHS control group, the OSAHS group had a significantly higher T allele frequency in p22phox polymorphism (P=0.03). There were independent effects of p22phox polymorphism on body mass index (BMI), neck circumference (NC), waist-to-hip ratio (WHR) in the OSAHS group, and the carriers of the T allele of p22phox polymorphism had greater NC, WHR, systolic blood pressure (SBP), diastolic blood pressure (DBP) and apnea-hypopnea index (AHI) (P <0.05), but the carriers of the T allele had lower SOD

  6. MLH1 methylation screening is effective in identifying epimutation carriers

    Science.gov (United States)

    Pineda, Marta; Mur, Pilar; Iniesta, María Dolores; Borràs, Ester; Campos, Olga; Vargas, Gardenia; Iglesias, Sílvia; Fernández, Anna; Gruber, Stephen B; Lázaro, Conxi; Brunet, Joan; Navarro, Matilde; Blanco, Ignacio; Capellá, Gabriel

    2012-01-01

    Recently, constitutional MLH1 epimutations have been identified in a subset of Lynch syndrome (LS) cases. The aim of this study was the identification of patients harboring constitutional MLH1 epimutations in a set of 34 patients with a clinical suspicion of LS, MLH1-methylated tumors and non-detected germline mutations in mismatch repair (MMR) genes. MLH1 promoter methylation was analyzed in lymphocyte DNA samples by MS-MLPA (Methylation-specific multiplex ligation-dependent probe amplification). Confirmation of MLH1 constitutional methylation was performed by MS-MCA (Methylation-specific melting curve analysis), bisulfite sequencing and pyrosequencing in different biological samples. Allelic expression was determined using heterozygous polymorphisms. Vertical transmission was evaluated by MS-MLPA and haplotype analyses. MS-MLPA analysis detected constitutional MLH1 methylation in 2 of the 34 individuals whose colorectal cancers showed MLH1 methylation (5.9%). These results were confirmed by bisulfite-based methods. Both epimutation carriers had developed metachronous early-onset LS tumors, with no family history of LS-associated cancers in their first-degree relatives. In one of the cases, the identified MLH1 constitutional methylation was monoallelic and results in MLH1 and EPM2AIP1 allele-specific transcriptional silencing. It was present in normal somatic tissues and absent in spermatozoa. The methylated MLH1 allele was maternally transmitted and methylation was reversed in a daughter who inherited the same allele. MLH1 methylation screening in lymphocyte DNA from patients with early-onset MLH1-methylated LS-associated tumors allows the identification of epimutation carriers. The present study adds further evidence to the emerging entity of soma-wide MLH1 epimutation and its heritability. PMID:22763379

  7. Methodology for determination of contents and entrapment efficiency of curcumin nanostructured lipid carrier%姜黄素纳米脂质载体中药物含量及包封率测定方法的建立

    Institute of Scientific and Technical Information of China (English)

    陈进; 代文婷; 何争民; 黄霞; 高雷; 陈卫东

    2012-01-01

    目的 建立测定姜黄素纳米脂质载体中药物含量及包封率的方法.方法 采用超滤离心法分离纳米粒与游离药物,采用高效液相法测定药物的含量及包封率.色谱柱:COSMILC1s柱(4.6 mm×250 mm,5μm);检测波长:430 nm;流动相:乙腈:4%冰乙酸(60∶40);流速:1.0ml/min;柱温:30℃;进样量:20μl.结果 姜黄素在0.050~40.0μg/ml范围内线性关系良好(r=0.9998,n=8).采用离心超滤法测得的3批样品的包封率分别为98.11%,97.18%,98.59%.3批样品的载药量分别为3.89%,3.76%,4.12%.结论 该方法专属性强、方便、快捷,适用于测定姜黄素纳米脂质载体中药物的含量及包封率.%Objective To establish a methodology for determination of the contents and entrapment efficiency of curcumin nanostructured lipid carrier. Methods Nanoparticles and free drugs were separated by ultrafiltration centrifugation for subsequent determination of the contents and entrapment efficiency of curcumin nanostructured lipid carrier by high-performance liquid chromatography (HPLC). The HPLC system consisted of a reverse phase COS-MOSIL C18 column (4.6 mm×250 mm, 5 μm) with a capacity for detection of UV at the wavelength of 430 nm. The mobile phase consisted of acetonitrile and 4% acetic acid (60:40, V/V) and the flow rate was set at 1.0 ml/min. Under the column temperature of 30 ℃, the typical injection volume was rated at 20μl. Results Curcumin showed preferential linearity in the range of 0.050-40.0μg/mL (r=0.9998, n=8). The entrapment efficiency of three batches of samples was 98.11%, 97.18% and 98.59%, with the drug-loading efficiency of 3.89%, 3.76% and 4.12%, respectively. Conclusion Our established methodology is featured by high specificity and convenience and appears applicable for determination of drug contents and entrapment efficiency of curcumin nanostructured lipid carriers.

  8. Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects%神经管畸形患儿还原叶酸载体基因和叶酸之间交互作用

    Institute of Scientific and Technical Information of China (English)

    裴丽君; 朱慧萍; 李智文; 张卫; 任爱国; 朱江辉; 李竹

    2005-01-01

    Objective To search the interaction between reduced folate carrier gene ( RFC1 A80G) polymorphism of children with neural tube defects (NTDs) and maternal periconceptional no supplementation of folic acid. The purpose is to provide the epidemiological evidence for finding genetic marker of NTDs. Methods RFC1 (A80G) genotype was detected using PCR-restricted fragment length polymorphism for the blood DNA of 104 trios with NTDs-affected child, and 100 control families with non-malformed control children. The authors investigated the gene-environment interactions between the offspring RFC1 genotype and maternal periconceptional folic acid supplementation through a case-control study. Results It was observed that the offspring with the GG genotype were associated with a 2.56-fold increased risk of NTDs when compared to those with the AA genotype (OR=2.56;95%CI=1.04-6.36) in this population under investigation. The risk of mothers who did not take folic acid for having an NTDs-affected infants was 7.69 (95%CI=2.86-21.75). Among the mothers who did not utilize folic acid supplements, the NTDs risk was 3.30 (95%CI=1.15-9.65) for offspring with the GG genotype, compared to the reference (AA) genotype. Children who had the GG genotype and whose mothers did not take folic acid had an elevated risk for NTDs (OR=8.80, 95%CI=2.86-29.82), compared to "offspring with AA or GA genotype" and "maternal folic acid use", the interactive coefficient being 1.45. Conclusion The above findings indicate that the RFC1 genotype (GG) is a possible susceptible gene marker for an increased NTDs risk in Chinese population, and there is a potential gene-nutrient interaction between offspring RFC1 GG genotype and maternal periconceptional intake of folic acid on the risk of NTDs. However,the sample size of this study was limited, a larger sample of population-based study is required to pursue the initial observation.%目的探讨神经管畸形(neural tube defects, NTDs)患

  9. Evaluation of multidrug resistance-1 gene C>T polymorphism frequency in patients with asthma

    Directory of Open Access Journals (Sweden)

    Ümran Toru

    2015-10-01

    Full Text Available OBJECTIVES:Asthma is a chronic inflammatory lung disease characterized by bronchial hyperresponsiveness and airflow obstruction. Genetic and oxidative stress factors, in addition to pulmonary and systemic inflammatory processes, play a pivotal role in the pathogenesis of asthma. The products of the multidrug resistance-1 gene protect lung tissue from oxidative stress. Here, we aimed to evaluate the association between the multidrug resistance-1 gene C>T polymorphism and asthma with regard to oxidative stress-related parameters of asthmatic patients.METHODS:Forty-five patients with asthma and 27 healthy age-matched controls were included in this study. Blood samples were collected in tubes with ethylenediaminetetraacetic acid. DNA was extracted from the blood samples. The multidrug resistance-1 gene polymorphism was detected by polymerase chain reaction and a subsequent enzyme digestion technique. The serum levels of total oxidant status and total antioxidant status were determined by the colorimetric measurement method.RESULTS:The heterozygous polymorphic genotype was the most frequent in both groups. A significant difference in the multidrug resistance-1 genotype frequencies between groups indicated an association of asthma with the TT genotype. A significant difference between groups was found for wild type homozygous participants and carriers of polymorphic allele participants. The frequency of the T allele was significantly higher in asthmatic patients. The increase in the oxidative stress index parameter was significant in the asthma group compared with the control group.CONCLUSIONS:The multidrug resistance-1 gene C/T polymorphism may be an underlying genetic risk factor for the development of asthma via oxidant-antioxidant imbalance, leading to increased oxidative stress.

  10. Intestinal solute carriers

    DEFF Research Database (Denmark)

    Steffansen, Bente; Nielsen, Carsten Uhd; Brodin, Birger

    2004-01-01

    A large amount of absorptive intestinal membrane transporters play an important part in absorption and distribution of several nutrients, drugs and prodrugs. The present paper gives a general overview on intestinal solute carriers as well as on trends and strategies for targeting drugs and/or pro...

  11. Autonomous component carrier selection

    DEFF Research Database (Denmark)

    Garcia, Luis Guilherme Uzeda; Pedersen, Klaus; Mogensen, Preben

    2009-01-01

    in local areas, basing our study case on LTE-Advanced. We present extensive network simulation results to demonstrate that a simple and robust interference management scheme, called autonomous component carrier selection allows each cell to select the most attractive frequency configuration; improving...

  12. Association of apolipoprotein E gene polymorphism with small-vessel lesions and stroke type in moyamoya disease: a preliminary study.

    Science.gov (United States)

    Jang, Dong-Kyu; Huh, Pil Woo; Lee, Kwan-Sung

    2016-06-01

    OBJECT The present study was conducted to investigate whether microbleeds or microinfarcts are associated with apolipoprotein E (APOE) gene polymorphisms in patients with moyamoya disease (MMD), and if so, whetherAPOE gene polymorphisms are also associated with stroke type in patients with MMD. METHODS This cross-sectional, multicenter study included 86 consecutive patients with MMD who underwent T2*-weighted gradient echo or susceptibility-weighted MR imaging and 83 healthy control volunteers. Baseline clinical and radiological characteristics were recorded at diagnosis, and inter- and intragroup differences in the APOE genotypes were assessed. Multivariate binary logistic regression models were used to determine the association factors for small-vessel lesions (SVLs) and hemorrhagic presentation in patients with MMD. RESULTS There was no difference in APOE gene polymorphism and the incidence of SVLs between patients with MMD and healthy controls (p > 0.05). In the MMD group, 7 (8.1%) patients had microbleeds and 32 (37.2%) patients had microinfarcts. Microbleeds were more frequently identified in patients with hemorrhagic-type than in nonhemorrhagictype MMD (p = 0.003). APOE genotypes differed according to the presence of microbleeds (p = 0.024). APOE ε2 or ε4 carriers also experienced microbleeds more frequently than APOE ε3/ε3 carriers (p = 0.013). In the multivariate regression analysis in patients with MMD, microbleeds were significantly related to APOE ε2 or ε4 carrier status (OR 7.86; 95% CI1.20-51.62; p = 0.032) and cerebral aneurysm (OR 17.31; 95% CI 2.09-143.57; p = 0.008). Microinfarcts were independently associated with hypertension (OR 3.01; 95% CI 1.05-7.86; p = 0.007). Hemorrhagic presentation was markedly associated with microbleeds (OR 10.63; 95% CI 1.11-102.0; p = 0.041). CONCLUSIONS These preliminary results did not show a difference in APOE gene polymorphisms between patients with MMD and healthy persons. However, they imply that APOE

  13. Simultaneous detection of the exon 10 polymorphism and a novel intronic single base insertion polymorphism in the XPD gene using single strand conformation polymorphism.

    Science.gov (United States)

    Kumar, Rajiv; Angelini, Sabrina; Hemminki, Kari

    2003-03-01

    We developed a new method based on the single strand conformation polymorphism (SSCP) technique for the detection of a G23591A (Asp312Asn) polymorphism in exon 10 of the XPD gene. In the process we also identified a novel polymorphism 23623C-ins (IVS10+17C-ins) in intron 10 of the same gene. With this newly developed SSCP-based method of genotyping we could detect both polymorphisms in the same assay and thus consequently determine the haplotype. In order to determine the population frequency of the novel polymorphism and the haplotype frequency, 302 healthy individuals were genotyped. The allelic frequency of the 23623C-ins intronic polymorphism was 0.16, whereas the frequency of the variant allele for the G23591A polymorphism was 0.39. Forty-three individuals (14%) were heterozygous for both polymorphisms but none carried polymorphic variants for both G23591A and 23623C-ins on the same allele. The effect of the novel intronic insertion polymorphism, which is located 16 nt downstream of the 3'-end of exon 10 of the XPD gene and involves a mononucleotide C repeat sequence, on expression remains to be determined.

  14. Micronuclei frequency induced by bleomycin in human peripheral lymphocytes: correlating BLHX polymorphism with mutagen sensitivity.

    Science.gov (United States)

    Maffei, Francesca; Carbone, Fabio; Angelini, Sabrina; Forti, Giorgio Cantelli; Norppa, Hannu; Hrelia, Patrizia

    2008-03-01

    Mutagen sensitivity assay, by measuring chromosome damage induced by an in vitro treatment of peripheral lymphocytes with bleomycin, has been proposed as a biomarker for assessing cancer susceptibility. Recently, a single nucleotide polymorphism (SNP A1450G) of the gene for bleomycin hydrolase (BLHX), a specific neutral cysteine protease able to metabolise bleomycin, was proposed as a plausible candidate to variation in mutagen sensitivity. To shed more light on the effect of BLHX genotype on the expression of chromosome damage induced in vitro by bleomycin, we determined mutagen sensitivity for 45 non-smoker healthy volunteers. The level of bleomycin-induced chromosome damage was assessed as frequencies of micronuclei (MN) in cytokinesis-blocked lymphocytes. The subjects were genotyped for the BLHX gene, to determine the possible effect of this polymorphism on mutagen sensitivity. No difference in the spontaneous value of MN was detected between the homozygotes wild-type (A/A) and the carriers of variant alleles A/G heterozygotes or G/G homozygotes (MN/1000 binucleated (BN) cells: 6.69+/-2.53 and 6.37+/-4.87, respectively). A substantial effect of BLHX polymorphism in predetermining individual mutagen sensitivity status was observed: subjects with the BLHX A/A genotype displayed significantly lower mean levels of bleomycin-induced MN frequency than the carriers of A/G or G/G variant alleles combined (12.00+/-3.76 MN/1000 BN vs. 16.37+/-8.86 MN/1000 BN, respectively; P=0.029). The multiple regression analysis, including BLHX genotype and age, confirmed the significant effect of BLHX variant alleles (A/G, G/G) on the chromosome damage induced by bleomycin (P=0.01), whereas age correlated only with the spontaneous MN frequency.

  15. Screening of polymorphisms for MTHFR and DHFR genes in spina bifida children and their mothers

    Science.gov (United States)

    Husna, M. Z.; Endom, I.; Ibrahim, S.; Selvi, N. Amaramalar; Fakhrurazi, H.; Htwe, R. Ohnmar; Kanehaswari, Y.; Halim, A. R. Abdul; Wong, S. W.; Subashini, K.; Syahira, O. Nur; Aishah, S.

    2013-11-01

    Mechanism underlying the beneficial effect of folic acid supplementation in reducing the risk of neural tube defect is still not well understood. Current evidences show the involvement of folic acid metabolic gene's polymorphism as contributing factors that regulate this pathway. Therefore, the objective of this research was to determine the presence of C677T polymorphism for methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR-19 bp deletion) genes between mother-children pairs of case and control. With the approval of UKMMC ethic committee, genomic DNA was extracted from one hundred and forty consented bloods. Polymerase chain reaction (PCR), PCR-RFLP (Restriction Fragment Length Polymorphism) and sequencing were employed to verify each nucleotide change. Our result shows that mutant MTHFR and DHFR alleles are present in all Malaysian sub-ethnic groups, case and control. Even though mutant MTHFR are found to be slightly higher in the case groups, 75% of the affected child is a non carrier for this allele and 62.5% of the mothers with an affected child are genotypically normal. For DHFR, almost all (87.5-100%) investigated samples are a carrier or having a double DHFR deletion be it a case or control pairs. However, strong maternal inheritance shown by the deleted allele might be due to a cascade effect of lacks of folate consumption or maternal uniparental disomy. In conclusion, the use of MTHFR and DHFR as markers in determining the risk of having spina bifida baby is uninformative and plays a small indirect role as the genetic causes of spina bifida. Therefore, spina bifida remains etiologically unknown polygenic and quantitative developmental trait whereby the searches for positive genetic marker need to be continued.

  16. Determination of Ionic Carriers in Polypyrrole

    DEFF Research Database (Denmark)

    Skaarup, Steen; West, Keld; Gunaratne, L.M.W.K.;

    2000-01-01

    The successful use of conducting polymers for actuators depends on the ability to control force and position precisely by the application of a potential. The reversible oxidation and reduction of the polymer backbone is accompanied either by the insertion/expulsion of anions, by the expulsion/ins...

  17. Gene receptor polymorphism as a risk factor for BMD deterioration in adolescent girls with anorexia nervosa.

    Science.gov (United States)

    Stergioti, E; Deligeoroglou, E; Economou, E; Tsitsika, A; Dimopoulos, K D; Daponte, A; Katsioulis, A; Creatsas, G

    2013-07-01

    Anorexia nervosa is a serious eating disorder that is associated with decreased bone mineral density and greater lifetime risk for fractures. This case-controlled study, analyzed single nucleotide polymorphisms of genes encoding vitamin D receptor, estrogen receptor alpha (ESR1), collagen type I and calcitonin receptor (CTR). Relationships between genotype and body mass index, cycling status and lumbar spine bone mineral density (LBMD) were determined in 40 adolescent girls with anorexia nervosa and 10 age-matched controls. The distribution of CTR-AluI genotypes differed between groups, but this polymorphism was not associated with LBMD Z-score. Distribution of ESR1-XbaI genotypes did not differ between groups, but the AA genotype was associated with decreased LBMD Z-score (≤-1) (OR = 24.79, 95% CI, 1.01-606.08). Carriers of the A allele were more likely to have decreased LBMD Z-scores compared with carriers of the G allele (OR = 4.12, 95% CI, 1.23-13.85, p = 0.022). In conclusion, our study shows that anorexic patients with wild-type genotype ESR-XbaI receptor are in greater risk for decreased BMD in relation to those with the mutated gene. Prompt recognition of these patients is crucial because early administration of the proper therapeutic treatment may contribute to the prevention of adverse sequelae on bone metabolism.

  18. Polymorphism (ALA16VAL) correlates with regional lymph node status in breast cancer.

    Science.gov (United States)

    Bica, Claudia Giuliano; da Silva, Leonardo Leiria de Moura; Toscani, Nadima Vieira; Zettler, Cláudio Galleano; Gottlieb, Maria Gabriela do Valle; Alexandre, Cláudio Osmar Pereira; Graudenz, Márcia Silveira; Mânica da Cruz, Ivana Beatrice

    2010-01-15

    We studied the possible association between Ala16Val manganese-dependent superoxide dismutase (MnSOD) gene genotypes and breast cancer lymph node status because previous investigations suggested an association between the AA genotype and breast cancer. We included 281 women (188 controls and 93 cases of invasive breast cancer with axillary lymph node metastasis (LN+) and without lymph node metastasis (LN-). DNA was extracted from paraffin-embedded tumor tissue or peripheral blood leukocytes, and MnSOD polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism techniques. In addition, the immunohistochemical profile (p53, Ki-67 and estrogen/progesterone receptors) was also compared between invasive breast cancer groups and different MnSOD genotypes. The frequency of the VV genotype was higher in the LN+ group than in the control and LN- groups (chi(2)=5.081, P=0.02). Subjects with LN+ breast cancer (LN+ group) showed a higher incidence of VV genotype carriers associated with positive Ki-67 marker. Subjects with LN+ breast cancer (LN+ group) showed a higher incidence of VV genotype carriers associated with negative p53 marker. Despite the fact that the AA genotype is well established as being associated with an increased risk of breast cancer, the VV genotype may be associated with a higher metastatic potential, suggesting that MnSOD imbalance is the condition associated with carcinogenesis.

  19. A SINGLE NUCLEOTIDE POLYMORPHISM C/T-13910 AND CONSUMPTION OF DAIRY PRODUCTS IN UZBEK POPULATION

    Directory of Open Access Journals (Sweden)

    Sharaf

    2015-10-01

    Full Text Available AIM: To determine the relationship between C/C-13910 genotyping and consumption of dairy products in an Uzbek population and to study the incidence of gastrointestinal symptoms for dairy products in the LNP C/C-13910 carriers. METHODS: 100 Uzbeks were examined for nucleotide polymorphisms by polymerase chain reaction/restriction fragment length polymorphism. Dairy tolerance was analyzed by a questionnaire, developed to assess dyspepsia after milk and dairy consumption. RESULTS: The genetic allele variant C/C-13910, the marker of lactase non-persistence, was found in 81% of cases in the Uzbek population. In 19% of the subjects, the genotype C/T-13910 was found. No statistically significant relationship was found between the lactase deficiency genotype and consumption of dairy products (p>0,05. The majority of the participants with the genotype C/C-13910 were reported to consume dairy products every day or several times in week. Among carriers of genotype LNP gastrointestinal symptoms, when consuming dairy products, do not occur more often than in those with genotype LP (p>0.05. CONCLUSION: Despite the high prevalence of lactase deficiency in the Uzbek population, Uzbeks tolerate dairy products well and regularly consume them. Regular consumption of fermented milk products in the diet of the Uzbek population is likely to compensate for the rare use of milk and helps with the intake of calcium and other nutrients contained in milk.

  20. Influence of the interaction between the adiponectin G276T polymorphism and body mass index on lipid levels in healthy children.

    Science.gov (United States)

    Riestra, Pía; García-Anguita, Alicia; Lasunción, Miguel A; Mangas, Alipio; de Oya, Manuel; Garcés, Carmen

    2012-04-01

    Adiponectin is an adipose tissue-specific hormone which is inversely associated with metabolic alterations related to atherosclerosis. Polymorphisms in the adiponectin gene (AdipoQ) have been related to low adiponectin levels as well as several cardiovascular risk factors, but this association remains controversial. In our study we investigated the relationship between the AdipoQ T45G (rs: 2241766) and G276T (rs: 1501299) polymorphisms and adiponectin concentrations, blood pressure, and lipid and insulin levels, in a population-based sample of 12- to 16-year-old children. The study included 815 healthy Spanish children (388 boys and 427 girls). Plasma glucose and lipid levels were determined by standard methods. Insulin concentrations were measured by RIA, and serum adiponectin levels were determined by ELISA. The AdipoQ T45G and AdipoQ G276T polymorphisms were determined by TaqMan(®) allelic discrimination assays. ANOVA or t test allowed for comparison of the studied parameters across genotypes or genotype groups, respectively. A linear regression analysis was performed to examine the independent relationships of the lipid variables with BMI (body mass index), AdipoQ G276T polymorphism and the interaction between the two. When independently comparing the effect of these polymorphisms in normal-weight and overweight children, we observed that overweight boys carriers of the minor allele T had significantly lower TC, LDL-C and apo A-I levels than non-carriers, but these differences were not apparent in normal-weight boys. Furthermore, linear regression analysis demonstrated that interaction between the BMI and the AdipoQ G276T polymorphism is a significant factor explaining the variations of TC and LDL-C levels. To our knowledge, this is the first study to report an association between the AdipoQ G276T polymorphism and lipid levels in overweight boys alone, thereby suggesting that the influence of the AdipoQ polymorphisms on cardiovascular risk factors may be

  1. Resistivity, carrier concentration, and carrier mobility of electrochemically deposited CdTe films

    OpenAIRE

    Takahashi, Makoto; Uosaki, Kohei; Kita, Hideaki; Yamaguchi, Shoji

    1986-01-01

    The electrical type, resistivity, and donor or acceptor concentration of CdTe films deposited electrochemically at various potentials were measured. The carrier mobilities of the films were determined from these results. The deposition potential dependence of the mobility was small and the deposition potential dependence of the resistivity was mainly controlled by the deposition potential dependence of the donor or acceptor concentration. The carrier mobilities were very small compared with t...

  2. Attitudes of potential providers toward preconceptual cystic fibrosis carrier screening.

    NARCIS (Netherlands)

    Poppelaars, F.; Ader, H.J.; Cornel, M.C.; Henneman, L.; Hermens, R.P.M.G.; Wal, G. van der; Kate, L. ten

    2004-01-01

    To determine the attitudes of potential providers (general practitioners and Community Health Service workers) towards preconceptual cystic fibrosis (CF) carrier screening and to determine which factors are associated with a positive attitude. A survey was conducted among 200 general practitioners (

  3. Prevalence of metilentetrahidrofolate reductase C677T polymorphism, consumption of vitamins B6, B9, B12 and determination of lipidic hydroperoxides in obese and normal weight Mexican population

    Directory of Open Access Journals (Sweden)

    César Hernández-Guerrero

    2013-12-01

    Full Text Available Introduction: Oxidative stress is a key factor in the development of the principal comorbidities of obesity. Methylenetetrahydrofolate reductase enzyme (MTHFR participates in the metabolism of folate with the action of vitamins B6 and B12. The gene of MTHFR may present a single nucleotide polymorphism (SNP at position 677 (C677T, which can promote homocysteinemia associated to the production of free radicals. Objective: To determine the frequency of SNP C677T of the MTHFR, evaluate the consumption of vitamins B6, B9, B12 and determine the concentration of plasma lipid hydroperoxides (LOOH in obese and control groups. Methods: 128 Mexican mestizo according to their body mass index were classified as normal weight (Nw; n = 75 and obesity (ObeI-III; n = 53. Identification of SNP C677T of MTHFR was performed by PCR-RFLP technic. The consumption of vitamins B6, B9 and B12 was assessed by a validate survey. LOOH was determined as an indicator of peripheral oxidative stress. Results: There was no statistical difference in the frequency of the C677T polymorphism between the TT homozygous genotype in Nw (0.19 and ObeI-III (0.25. The frequency of T allele in Nw was 0.45 and 0.51 in ObI-III group. There were no statistical differences in the consumption of vitamins B6, B9 and B12 between Nw and ObI-III groups. The LOOH showed statistical difference (p < 0.05 between Nw and ObI-III group. Discussion: Oxidative stress is present in all grades of obesity although there were no differences in the vitamin consumption and the SNP C677T between Nw and ObeI-III groups.

  4. Analysis of the Expression and Polymorphism of APOE, HSP, BDNF, and GRIN2B Genes Associated with the Neurodegeneration Process in the Pathogenesis of Primary Open Angle Glaucoma

    Directory of Open Access Journals (Sweden)

    Alicja Nowak

    2015-01-01

    Full Text Available Glaucoma is characterized by optic neuropathy of the RGC or retinal nerve fiber. The aim of this study was to evaluate a relationship between the neurodegenerative genes’ polymorphisms of the APOE (rs449647, BDNF (rs2030324, GRIN2B (rs3764028, and HSP70-1 (rs1043618 and the occurrence risk of POAG and to investigate its effect on allele-specific gene expression. Genomic DNA was extracted from peripheral blood. Analysis of the genes’ polymorphisms was performed using PCR-RFLP. The level of mRNA expression was determined by QRT-PCR. We showed a statistically significant association of BDNF and APOE genes’ polymorphisms with a risk of POAG occurrence. There was a statistically significant association of the rs2030324 polymorphism with progression of POAG based on cup disc ratio value and rs1043618 polymorphism based on nerve fiber index and rim area. Furthermore, we found that mean HSP70-1 mRNA expression was significantly lower in the case of individuals with the G/G genotype than in the case of minor allele carriers, that is, G/C and C/C. We also found that BDNF and HSP70-1 expression level are associated with the progression of POAG based on rim area value. In conclusion, our results suggest that BDNF, APOE, and HSP70-1 genes might be associated with a risk of POAG occurrence in the Polish population.

  5. Analysis of the expression and polymorphism of APOE, HSP, BDNF, and GRIN2B genes associated with the neurodegeneration process in the pathogenesis of primary open angle glaucoma.

    Science.gov (United States)

    Nowak, Alicja; Majsterek, Ireneusz; Przybyłowska-Sygut, Karolina; Pytel, Dariusz; Szymanek, Katarzyna; Szaflik, Jerzy; Szaflik, Jacek P

    2015-01-01

    Glaucoma is characterized by optic neuropathy of the RGC or retinal nerve fiber. The aim of this study was to evaluate a relationship between the neurodegenerative genes' polymorphisms of the APOE (rs449647), BDNF (rs2030324), GRIN2B (rs3764028), and HSP70-1 (rs1043618) and the occurrence risk of POAG and to investigate its effect on allele-specific gene expression. Genomic DNA was extracted from peripheral blood. Analysis of the genes' polymorphisms was performed using PCR-RFLP. The level of mRNA expression was determined by QRT-PCR. We showed a statistically significant association of BDNF and APOE genes' polymorphisms with a risk of POAG occurrence. There was a statistically significant association of the rs2030324 polymorphism with progression of POAG based on cup disc ratio value and rs1043618 polymorphism based on nerve fiber index and rim area. Furthermore, we found that mean HSP70-1 mRNA expression was significantly lower in the case of individuals with the G/G genotype than in the case of minor allele carriers, that is, G/C and C/C. We also found that BDNF and HSP70-1 expression level are associated with the progression of POAG based on rim area value. In conclusion, our results suggest that BDNF, APOE, and HSP70-1 genes might be associated with a risk of POAG occurrence in the Polish population.

  6. CYP7A1 Gene Polymorphism Located in the 5′ Upstream Region Modifies the Risk of Coronary Artery Disease

    Directory of Open Access Journals (Sweden)

    Tomasz Iwanicki

    2015-01-01

    Full Text Available Background. 7-Alpha cholesterol hydroxylase (CYP7A1, the first enzyme of classic conversion pathway leading from cholesterol to bile acids synthesis, is encoded by CYP7A1 gene. Its single nucleotide polymorphisms (SNPs influence serum lipid levels and may be related to impaired lipid profile leading to coronary artery disease (CAD. The aim of the present study was to analyze the possible association between the rs7833904 CYP7A1 polymorphism and premature CAD. Material and Methods. Serum lipid levels and rs7833904 SNP were determined in 419 subjects: 200 patients with premature CAD and 219 age and sex matched controls. Results. The A allele carrier state was associated with CAD (OR = 1.76, 95% CI; 1.14–2.71, P=0.014. The effect was even stronger in the male subgroups (OR = 2.16, 95% CI; 1.28–3.65, P=0.003. There was no effect in the females. Risk factors of CAD and clinical phenotype of atherosclerosis were not associated with genotype variants of the rs7833904 SNP. Lipid profiles also did not differ significantly between individual genotypes. Conclusion. The CYP7A1 rs7833904 polymorphism may modify the risk of CAD. This effect is especially strong in male subjects. The studied polymorphism does not significantly influence serum lipid levels, in the present study.

  7. Association of L-FABP T94A and MTP I128T polymorphisms with hyperlipidemia in Chinese subjects.

    Science.gov (United States)

    Tian, Yingying; Li, Hui; Wang, Shanbo; Yan, Jin; Chen, Zhiheng; Li, Zhenyu; Feng, Han; Zhou, Honghao; Ouyang, Dongsheng

    2015-03-01

    The purpose of this study was to evaluate the relation between the L-FABP T94A and MTP I128T polymorphisms and hyperlipidemia in Chinese subjects. We recruited 390 volunteers: 201 hyperlipidemic and 189 healthy volunteers. The L-FABP T94A and MTP I128T polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Anthropometry, lipid profile, and liver function of the subjects were determined. We observed that male carriers of the L-FABP A94 allele had significantly higher body weight (P = 0.012), higher body mass index (BMI) (P = 0.014), and higher plasma triacylglycerol levels (TAG) (P = 0.033) and lower ratios of high-density lipoprotein cholesterol (HDL-C) to total cholesterol (TC) (P = 0.008) than T94 homozygotes. The MTP T128 allele was associated with significantly lower serum TC (P L-FABP T94A polymorphisms can affect serum lipid levels in the Chinese population. The MTP T128 allele offers protection against hyperlipidemia in the Chinese population.

  8. CYP7A1 Gene Polymorphism Located in the 5′ Upstream Region Modifies the Risk of Coronary Artery Disease

    Science.gov (United States)

    Iwanicki, Tomasz; Balcerzyk, Anna; Niemiec, Pawel; Nowak, Tomasz; Ochalska-Tyka, Anna; Krauze, Jolanta; Kosiorz-Gorczynska, Sylwia; Grzeszczak, Wladyslaw; Zak, Iwona

    2015-01-01

    Background. 7-Alpha cholesterol hydroxylase (CYP7A1), the first enzyme of classic conversion pathway leading from cholesterol to bile acids synthesis, is encoded by CYP7A1 gene. Its single nucleotide polymorphisms (SNPs) influence serum lipid levels and may be related to impaired lipid profile leading to coronary artery disease (CAD). The aim of the present study was to analyze the possible association between the rs7833904 CYP7A1 polymorphism and premature CAD. Material and Methods. Serum lipid levels and rs7833904 SNP were determined in 419 subjects: 200 patients with premature CAD and 219 age and sex matched controls. Results. The A allele carrier state was associated with CAD (OR = 1.76, 95% CI; 1.14–2.71, P = 0.014). The effect was even stronger in the male subgroups (OR = 2.16, 95% CI; 1.28–3.65, P = 0.003). There was no effect in the females. Risk factors of CAD and clinical phenotype of atherosclerosis were not associated with genotype variants of the rs7833904 SNP. Lipid profiles also did not differ significantly between individual genotypes. Conclusion. The CYP7A1 rs7833904 polymorphism may modify the risk of CAD. This effect is especially strong in male subjects. The studied polymorphism does not significantly influence serum lipid levels, in the present study. PMID:25944972

  9. Association of polymorphism of tumor necrosis factor-alpha gene promoter region with outcome of hepatitis B virus infection

    Institute of Scientific and Technical Information of China (English)

    Hong-Quan Li; Zhuo Li; Ying Liu; Jun-Hong Li; Jian-Qun Dong; Ji-Rong Gao; Chun-Yan Gou; Hui Li

    2005-01-01

    AIM: To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha (TNF-α), gene promoter and hepatitis B (HB) viral genotypes were associated with outcomes of HBV infection.METHODS: A total of 244 HBV self-limited infected subjects, 208 asymptomatic carriers, and 443 chronic HB patients were recruited to conduct a case-control study.TNF-α -238G/A and -857C/T gene promoter polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and HBV genotypes were examined by nested PCR.RESULTS: The positive rate of HBV DNA in asymptomatic carrier group and chronic HB group was 46.6% and 49.9%,respectively. HBV genotype proportion among the asymptomatic carriers was 2.1% for genotype A, 25.8% for genotype B, 68.0% for genotype C, and 4.1% for genotype B+C mixed infection, and 0.9% for genotype A,21.7% for genotype B, 71.5% for genotype C, 5.9% for genotype B+C mixed infection in chronic HB group. There was no significant difference in genotype distribution between the asymptomatic carrier group and chronic HB group (x2 = 1.66, P = 0.647). The frequency of -238GG genotype in self-limited group was 95.1%, significantly higher than 90.7% in chronic HB group and 89.0% in asymptomatic carrier group (P = 0.041 and P = 0.016,respectively).The frequency of TNF-α-857 CC in chronic HB group was 79.7%, significantly higher than 64.4% in asymptomatic carrier group and 70.9% in self-limited group (P<0.001 and P = 0.023, respectively). A multiple logistic regression analysis revealed that TNF-α-238GA and -857CC were independently associated with chronic HB after gender and age were adjusted.CONCLUSION: TNF-α promoter variants are likely to play a substantial role in the outcome of HBV infection.

  10. PCR-SSCP法分析载脂蛋白E基因多态性%Determining apolipoprotein E gene polymorphism by PCR-SSCP

    Institute of Scientific and Technical Information of China (English)

    胡鹏; 覃远汉; 经承学; 林伟雄

    2006-01-01

    目的:建立一种快速、简便、敏感的载脂蛋白E(ApoE)基因多态性检测方法.方法:酚/氯仿法提取46例原发性肾病综合征(primary nephrotic syndrome,PNS)患儿全血基因组DNA,聚合酶链式反应(PCR)扩增ApoE第四外显子,取PCR产物10μl加入等体积含有甲酰胺的上样缓冲液中,变性后行8%聚丙烯酰胺凝胶电泳,银染显示结果.同时对PCR产物进行测序,确认单链构象多态性(single-strand conformation polymorphism,SSCP)的检测结果.结果:PCR-SSCP法筛选出的各基因型与测序结果完全符合.结论:PCR-SSCP法可以快速准确地检测ApoE常见基因型.

  11. Response of soybean rhizosphere communities to human hygiene water addition as determined by community level physiological profiling (CLPP) and terminal restriction fragment length polymorphism (TRFLP) analysis

    Science.gov (United States)

    Kerkhof, L.; Santoro, M.; Garland, J.

    2000-01-01

    In this report, we describe an experiment conducted at Kennedy Space Center in the biomass production chamber (BPC) using soybean plants for purification and processing of human hygiene water. Specifically, we tested whether it was possible to detect changes in the root-associated bacterial assemblage of the plants and ultimately to identify the specific microorganism(s) which differed when plants were exposed to hygiene water and other hydroponic media. Plants were grown in hydroponics media corresponding to four different treatments: control (Hoagland's solution), artificial gray water (Hoagland's+surfactant), filtered gray water collected from human subjects on site, and unfiltered gray water. Differences in rhizosphere microbial populations in all experimental treatments were observed when compared to the control treatment using both community level physiological profiles (BIOLOG) and molecular fingerprinting of 16S rRNA genes by terminal restriction fragment length polymorphism analysis (TRFLP). Furthermore, screening of a clonal library of 16S rRNA genes by TRFLP yielded nearly full length SSU genes associated with the various treatments. Most 16S rRNA genes were affiliated with the Klebsiella, Pseudomonas, Variovorax, Burkholderia, Bordetella and Isosphaera groups. This molecular approach demonstrated the ability to rapidly detect and identify microorganisms unique to experimental treatments and provides a means to fingerprint microbial communities in the biosystems being developed at NASA for optimizing advanced life support operations.

  12. COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

    Science.gov (United States)

    Rebeix, Isabelle; Dupoux, Emmanuel; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Cleret de Langavant, Laurent; Youssov, Katia; Verny, Christophe; Damotte, Vincent; Azulay, Jean-Philippe; Goizet, Cyril; Simonin, Clémence; Tranchant, Christine; Maison, Patrick; Rialland, Amandine; Schmitz, David; Jacquemot, Charlotte; Fontaine, Bertrand; Bachoud-Lévi, Anne-Catherine

    2016-01-01

    Little is known about the genetic factors modulating the progression of Huntington’s disease (HD). Dopamine levels are affected in HD and modulate executive functions, the main cognitive disorder of HD. We investigated whether the Val158Met polymorphism of the catechol-O-methyltransferase (COMT) gene, which influences dopamine (DA) degradation, affects clinical progression in HD. We carried out a prospective longitudinal multicenter study from 1994 to 2011, on 438 HD gene carriers at different stages of the disease (34 pre-manifest; 172 stage 1; 130 stage 2; 80 stage 3; 17 stage 4; and 5 stage 5), according to Total Functional Capacity (TFC) score. We used the Unified Huntington’s Disease Rating Scale to evaluate motor, cognitive, behavioral and functional decline. We genotyped participants for COMT polymorphism (107 Met-homozygous, 114 Val-homozygous and 217 heterozygous). 367 controls of similar ancestry were also genotyped. We compared clinical progression, on each domain, between groups of COMT polymorphisms, using latent-class mixed models accounting for disease duration and number of CAG (cytosine adenine guanine) repeats. We show that HD gene carriers with fewer CAG repeats and with the Val allele in COMT polymorphism displayed slower cognitive decline. The rate of cognitive decline was greater for Met/Met homozygotes, which displayed a better maintenance of cognitive capacity in earlier stages of the disease, but had a worse performance than Val allele carriers later on. COMT polymorphism did not significantly impact functional and behavioral performance. Since COMT polymorphism influences progression in HD, it could be used for stratification in future clinical trials. Moreover, DA treatments based on the specific COMT polymorphism and adapted according to disease duration could potentially slow HD progression. PMID:27657697

  13. Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD

    Directory of Open Access Journals (Sweden)

    Sabri Denden

    2010-01-01

    Full Text Available Alpha-1-antitrypsin (AAT plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD. In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val, PiM2 (Arg101His, PiM3 (Glu376Asp, PiS (Glu264Val and PiZ (Glu342Lys SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms (PiM1, PiM2, PiM3 and the emphysematous type of COPD. In addition, FEV1 annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms.

  14. Cytotoxic T-lymphocyte antigen 4 gene polymorphisms and susceptibility to chronic hepatitis B

    Institute of Scientific and Technical Information of China (English)

    Amir Houshang Mohammad Alizadeh; Mehrdad Hajilooi; Mitra Ranjbar; Farahnaz Fallahian; Seyed Mohsen Mousavi

    2006-01-01

    AIM: To assess the three polymorphism regions within cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene, a C/T base exchange in the promoter region-318 (CTLA-4 -318C/T), an A/G substitution in the exon 1 position 49 (CTLA-4 49A/G), a T/C substitution in 1172 (CTLA-4 -1172T/C) in patients with chronic hepatitis B.METHODS: Fifty-one patients with chronic hepatitis B virus infection and 150 healthy subjects were recruited sequentially as they presented to the hepatic clinic. Classification of chronic hepatitis B virus (HBV)-infected patients was as asymptomatic carrier state (26 patients) and chronic hepatitis B (25 patients). Genomic DNA was isolated from anti-coagulated peripheral blood Buffy coat using Miller's salting-out method. The presence of the CTLA-4 gene polymorphisms was determined using polymerase chain reaction amplification refractory mutation system (ARMS).RESULTS: We observed a significant association between -318 genotypes frequency (T+C-, T+C+, T-C+) and susceptibility to chronic hepatitis B (P=0.012,OR=0.49, 95%CI: 0.206-1.162). However, we did not observe a significant association for +49 genotype frequency (T+C+, T+C- T-C+) and -1172 genotype frequency (C+T+, T+C- C+T-) and state of disease.CONCLUSION: Our results suggest that CTLA-4 gene polymorphisms may partially be involved in the susceptibility to chronic hepatitis B.

  15. The Vitamin D Receptor (VDR Gene Polymorphisms in Turkish Brain Cancer Patients

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    Bahar Toptaş

    2013-01-01

    Full Text Available Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR gene polymorphisms and the risk of glioma and meningioma. Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP. Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9% compared with controls (2.5%, and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles. Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.

  16. Development of Passenger Air Carriers

    Directory of Open Access Journals (Sweden)

    Igor Diminik

    2006-09-01

    Full Text Available The work presents the development of carriers in passengerair traffic, and the focus is on the development and operationsof carriers in chartered passenger transport. After the SecondWorld War, there were only scheduled air carriers. The need formass transport of tourists resulted in the development of chartercarriers or usage of scheduled carriers under different commercialconditions acceptable for tourism. Eventually also low-costcarriers appeared and they realize an increasing share in thepassenger transport especially in the aviation developed countries.

  17. The CYBA Gene ⁎49A>G Polymorphism (rs7195830) Is Associated with Hypertension in Patients with Coronary Artery Disease

    Science.gov (United States)

    Nowak, Tomasz; Niemiec, Paweł; Górczyńska-Kosiorz, Sylwia; Balcerzyk, Anna; Iwanicki, Tomasz; Krauze, Jolanta; Grzeszczak, Wladyslaw; Ochalska-Tyka, Anna; Iwanicka, Joanna; Zak, Iwona

    2016-01-01

    Purpose. Single nucleotide polymorphisms of the CYBA gene may modify the risk of coronary artery disease (CAD). The aim of the present study was to investigate whether the ⁎49A>G (rs7195830) polymorphism is associated with CAD. Materials and Methods. CYBA gene ⁎49A>G polymorphism was determined in 481 subjects: 242 patients with premature CAD and 239 age and sex matched controls using the fluorescently labeled allele-specific oligonucleotides method. Results. The frequency of the ⁎49G allele carrier state was significantly higher in patients than in controls (84.8% versus 76.6%, resp., P = 0.020), as well as the frequency of the ⁎49G allele (62.2% versus 54.0%, P = 0.009). Both factors were associated with CAD in the analyzed population (OR = 1.70, 95% CI: 1.04–2.76 for GG+AG versus AA and OR = 1.40, 95% CI: 1.08–1.83 for ⁎49G versus  ⁎49A). Carrier state of the ⁎49G allele was a stronger and independent risk factor for CAD among women (OR = 4.35, 95% CI: 1.50–13.20, P = 0.002), as well as the ⁎49G allele (OR = 2.25, 95% CI: 1.34–3.77, P = 0.001). The ⁎49G allele carrier state was also associated with left ventricular hypertrophy in patients with coronary artery disease (P = 0.015). Conclusion. The CYBA gene ⁎49A>G polymorphism modifies the risk of coronary artery disease. PMID:27314008

  18. The CYBA Gene ⁎49A>G Polymorphism (rs7195830 Is Associated with Hypertension in Patients with Coronary Artery Disease

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    Tomasz Nowak

    2016-01-01

    Full Text Available Purpose. Single nucleotide polymorphisms of the CYBA gene may modify the risk of coronary artery disease (CAD. The aim of the present study was to investigate whether the ⁎49A>G (rs7195830 polymorphism is associated with CAD. Materials and Methods. CYBA gene ⁎49A>G polymorphism was determined in 481 subjects: 242 patients with premature CAD and 239 age and sex matched controls using the fluorescently labeled allele-specific oligonucleotides method. Results. The frequency of the ⁎49G allele carrier state was significantly higher in patients than in controls (84.8% versus 76.6%, resp., P=0.020, as well as the frequency of the ⁎49G allele (62.2% versus 54.0%, P=0.009. Both factors were associated with CAD in the analyzed population (OR = 1.70, 95% CI: 1.04–2.76 for GG+AG versus AA and OR = 1.40, 95% CI: 1.08–1.83 for ⁎49G versus  ⁎49A. Carrier state of the ⁎49G allele was a stronger and independent risk factor for CAD among women (OR = 4.35, 95% CI: 1.50–13.20, P=0.002, as well as the ⁎49G allele (OR = 2.25, 95% CI: 1.34–3.77, P=0.001. The ⁎49G allele carrier state was also associated with left ventricular hypertrophy in patients with coronary artery disease (P=0.015. Conclusion. The CYBA gene ⁎49A>G polymorphism modifies the risk of coronary artery disease.

  19. The CYBA Gene (⁎)49A>G Polymorphism (rs7195830) Is Associated with Hypertension in Patients with Coronary Artery Disease.

    Science.gov (United States)

    Nowak, Tomasz; Niemiec, Paweł; Górczyńska-Kosiorz, Sylwia; Balcerzyk, Anna; Iwanicki, Tomasz; Krauze, Jolanta; Grzeszczak, Wladyslaw; Ochalska-Tyka, Anna; Iwanicka, Joanna; Zak, Iwona

    2016-01-01

    Purpose. Single nucleotide polymorphisms of the CYBA gene may modify the risk of coronary artery disease (CAD). The aim of the present study was to investigate whether the (⁎)49A>G (rs7195830) polymorphism is associated with CAD. Materials and Methods. CYBA gene (⁎)49A>G polymorphism was determined in 481 subjects: 242 patients with premature CAD and 239 age and sex matched controls using the fluorescently labeled allele-specific oligonucleotides method. Results. The frequency of the (⁎)49G allele carrier state was significantly higher in patients than in controls (84.8% versus 76.6%, resp., P = 0.020), as well as the frequency of the (⁎)49G allele (62.2% versus 54.0%, P = 0.009). Both factors were associated with CAD in the analyzed population (OR = 1.70, 95% CI: 1.04-2.76 for GG+AG versus AA and OR = 1.40, 95% CI: 1.08-1.83 for (⁎)49G versus  (⁎)49A). Carrier state of the (⁎)49G allele was a stronger and independent risk factor for CAD among women (OR = 4.35, 95% CI: 1.50-13.20, P = 0.002), as well as the (⁎)49G allele (OR = 2.25, 95% CI: 1.34-3.77, P = 0.001). The (⁎)49G allele carrier state was also associated with left ventricular hypertrophy in patients with coronary artery disease (P = 0.015). Conclusion. The CYBA gene (⁎)49A>G polymorphism modifies the risk of coronary artery disease.

  20. Influence of IL17A polymorphisms on the aberrant methylation of DAPK and CDH1 in non-cancerous gastric mucosa

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    Arisawa Tomiyasu

    2012-07-01

    Full Text Available Abstract Background CpG island aberrant methylation is shown to be an important mechanism in gene silencing. The important role of IL-17 in inflammatory response to H. pylori colonization has been indicated. We investigated the influence of IL17A polymorphisms, -197 G > A (rs2275913 and *1249 C > T (rs3748067, on the methylation of DAPK and CDH1. Methods Gastric mucosal samples were obtained from 401 subjects without malignancies. Methylation status of gene was determined by MSP. The genotyping of IL17A was performed by PCR-SSCP. Results Methylations of DAPK and CDH1 were seen in 196 and 149 of all 401 subjects, respectively. Overall, *1249 T carrier was associated with a decreased risk for DAPK methylation, whereas -197 G > A was not. In the subjects older than 60 years old, *1249 T carrier was more strongly associated with gene methylation and -197 A carrier tended to be associated with an increased risk for CDH1 methylation. When evaluating by inflammation promoting haplotype (-197 mutant carrier with *1249 homozygote, this haplotype had a more strongly increased risk for both DAPK and CDH1 methylations in comparatively older subjects. Both atrophy and metaplasia scores were significantly increased with age in -197 A carrier or *1249 CC homozygote, whereas were not in -197 GG homozygote or *1249 T carrier. PG I/II ratio was more significantly decreased in -197 A carrier than in GG homozygote under influence of H. pylori infection. Conclusions In -197 A allele carrier with *1249 CC homozygote, the methylations of both DAPK and CDH1 may be increased gradually, but more rapidly than the other genotypes, with age and altered gastric mucosal structure induced by H. pylori infection.

  1. A Genetic Polymorphism in RBP4 Is Associated with Coronary Artery Disease

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    Ke Wan

    2014-12-01

    Full Text Available Insulin resistance and obesity is influenced by the retinol binding protein 4 (RBP4 adipokine. This study aims to determine if genetic polymorphisms in RBP4 are associated with the risk of coronary artery disease (CAD in Chinese patients. RBP4 polymorphisms were analyzed by high resolution melting (HRM analysis in a case-control study of 392 unrelated CAD patients and 368 controls from China. The Gensini score was used to determine the severity of CAD. The genotypic and allelic frequencies of RBP4 single-nucleotide polymorphisms were evaluated for associations with CAD and severity of disease. The A allele frequency was significantly higher in CAD case groups compared to control groups (16.7% vs. 8.8% at the RBP4 rs7094671 locus. Compared to the G allele, this allele was associated with a higher risk of CAD (OR = 2.07 (1.50–2.84. Polymorphisms at rs7094671 were found to associate with CAD using either a dominant or recessive model (OR, 95% CI: 1.97, 1.38–2.81; 3.81, 1.53–9.51, respectively. Adjusting for sex, history of smoking, serum TC, TG, LDL-c, and HDL-c, the risk of CAD for carriers remained significantly higher in both dominant and recessive models (OR, 95% CI: 1.68, 1.12–2.51; 2.74, 1.00–7.52, respectively. However, this SNP was not significantly associated with severity of CAD using angiographic scores in multivariable linear regression models (p = 0.373. The RBP4 rs7094671 SNP is associated with CAD; however, our results do not indicate that this locus is associated with clinical severity of CAD or the extent of coronary lesions.

  2. Intestinal PTGS2 mRNA levels, PTGS2 gene polymorphisms, and colorectal carcinogenesis.

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    Lotte K Vogel

    Full Text Available BACKGROUND & AIMS: Inflammation is a major risk factor for development of colorectal cancer (CRC. Prostaglandin synthase cyclooxygenase-2 (COX-2 encoded by the PTGS2 gene is the rate limiting enzyme in prostaglandin synthesis and therefore plays a distinct role as regulator of inflammation. METHODS: PTGS2 mRNA levels were determined in intestinal tissues from 85 intestinal adenoma cases, 115 CRC cases, and 17 healthy controls. The functional PTGS2 polymorphisms A-1195G (rs689466, G-765C (rs20417, T8473C (rs5275 were assessed in 200 CRC cases, 991 adenoma cases and 399 controls from the Norwegian KAM cohort. RESULTS: PTGS2 mRNA levels were higher in mild/moderate adenoma tissue compared to morphologically normal tissue from the same individual (P<0.0001 and (P<0.035 and compared to mucosa from healthy individuals (P<0.0039 and (P<0.0027, respectively. In CRC patients, PTGS2 mRNA levels were 8-9 times higher both in morphologically normal tissue and in cancer tissue, compared to healthy individuals (P<0.0001. PTGS2 A-1195G variant allele carriers were at reduced risk of CRC (odds ratio (OR = 0.52, 95% confidence interval (95% CI: 0.28-0.99, P = 0.047. Homozygous carriers of the haplotype encompassing the A-1195G and G-765C wild type alleles and the T8473C variant allele (PTGS2 AGC were at increased risk of CRC as compared to homozygous carriers of the PTGS2 AGT (A-1195G, G-765C, T8473C haplotype (OR = 5.37, 95% CI: 1.40-20.5, P = 0.014. No association between the investigated polymorphisms and PTGS2 mRNA levels could be detected. CONCLUSION: High intestinal PTGS2 mRNA level is an early event in colorectal cancer development as it occurs already in mild/moderate dysplasia. PTGS2 polymorphisms that have been associated with altered PTGS2 mRNA levels/COX-2 activity in some studies, although not the present study, were associated with colorectal cancer risk. Thus, both PTGS2 polymorphisms and PTGS2 mRNA levels may provide information

  3. 41 CFR 109-40.303-3 - Most fuel efficient carrier/mode.

    Science.gov (United States)

    2010-07-01

    ... 41 Public Contracts and Property Management 3 2010-07-01 2010-07-01 false Most fuel efficient...-3 Most fuel efficient carrier/mode. When more than one mode, or more than one carrier within a mode... cost, the carrier/mode determined to be the most fuel efficient will be selected. In determining...

  4. CHRNA5 polymorphism and susceptibility to lung cancer in a Chinese population

    Energy Technology Data Exchange (ETDEWEB)

    Shen, Bo [Jiangsu Cancer Hospital, Department of Medical Oncology, Nanjing, Jiangsu Province (China); Zhu, Qun [Second Affiliated Hospital, Nanjing Medical University, Department of Endocrinology, Nanjing, Jiangsu Province (China); Zheng, Ma-Qing [College of Pharmacy, Nanjing University of Technology, Nanjing, Jiangsu Province (China); Chen, Jia; Shi, Mei-Qi; Feng, Ji-Feng [Jiangsu Cancer Hospital, Department of Medical Oncology, Nanjing, Jiangsu Province (China)

    2013-01-11

    Polymorphisms in the nicotinic acetylcholine receptor subunit CHRNA5 gene have been associated with lung cancer positive susceptibility in European and American populations. In the present hospital-based, case-control study, we determined whether polymorphism in rs503464 of CHRNA5 is associated with lung cancer risk in Chinese individuals. A single nucleotide polymorphism in CHRNA5 rs503464, c.-166T>A (hereafter T>A), was identified using TaqMan-MGB probes with sequencing via PCR in 600 lung cancer cases and 600 healthy individuals. Genotype frequencies for rs503464 (T>A) were in Hardy-Weinberg equilibrium for the control population. However, genotype frequencies were significantly different between cases and controls (P < 0.05), while allele frequencies were not significantly different between groups. Compared to homozygous genotypes (TT or AA), the risk of lung cancer in those with the heterozygous genotype (TA) was significantly lower (OR = 0.611, 95%CI = 0.486-0.768, P = 0.001). Using genotype AA as a reference, the risk of lung cancer for those with genotype TA was increased 1.5 times (OR = 1.496, 95%CI = 1.120-1.997, P = 0.006). However, no difference in risk was observed between T allele carriers and A allele carriers (OR = 0.914, 95%CI = 0.779-1.073, P = 0.270). Stratification analysis showed that the protective effect of TA was more pronounced in those younger than 60 years, nonsmokers, or those without a family history of cancer, as well as in patients with adenocarcinoma or squamous cell carcinoma in clinical stages III or IV (P < 0.05). Therefore, the heterozygous genotype c.-166T>A at rs503464 of CHRNA5 may be associated with reduced risk of lung cancer, thus representing a susceptibility allele in Chinese individuals.

  5. Polymorphism of the leptin gene promoter in pedigrees of type 2 diabetes mellitus in Chongqing, China

    Institute of Scientific and Technical Information of China (English)

    任伟; 张素华; 吴静; 倪银星

    2004-01-01

    Background It has been shown that the presence of leptin is associated with deabefes, glucose wefabolism and insulin metablism. In this research, we evaluated the presence of the leptin C-2549→A polymorphism in the Chinese population in Chongqing and verified its association with plasma leptin levels and anthropometric, metabolic, and clinical parameters.Methods Two hundred and sixty-nine patients with diabetes, 135 non-diabetic first-degree relatives of the patients, and 85 healthy controls were screened for the presence of C-2549→A polymorphism using a PCR-RFLP assay. Body mass index, fasting leptin, fasting insulin, fasting glucose and homeostatic model assessment for insulin resistance (HOMA)-IR were also determined.Results In the type 2 diabetes group, AA genotype frequency (6. 32%) and A allele frequency (34. 94%) was higher than in normal controls (1.18% and 25.29%, respectively). Diabetic patients with the AA genotype had lower fasting leptin and insulin levels than those with other genotypes.Carriers with the AC genotype had decreased fasting leptin and insulin levels and longer duration of disease as compared with those with CC genotype. The HOMA-IR of patients with AA or AC genotypes was lower than those with the CC genotype. In non-diabetic relatives group, individuals with the AA genotype had a lower fasting leptin level than those with the AC genotype. The fasting insulin and HOMA-IR level of carriers of the AA or AC genotype were lower than those of the CC genotype.Conclusion The C-2549→A polymorphism in the leptin gene is associated with fasting leptin in patients with type 2 diabetes. The distribution of the genotypes in diabetic subjects from diabetic pedigrees differs from those in normal controls. The A allele frequency in diabetic patients is higher than that in normal controls. The haplotypes defined by genotypes are different in the familial subjects.

  6. Association Study of IL-12B Polymorphisms Susceptibility with Ankylosing Spondylitis in Mainland Han Population.

    Directory of Open Access Journals (Sweden)

    Li Zhang

    Full Text Available This study aims to determine whether the genetic polymorphisms of IL-12B gene is a susceptibility factor to Ankylosing spondylitis (AS in mainland Han Chinese population.Eight single-nucleotide polymorphisms (SNPs (rs10045431, rs11167764, rs3212227, rs6556412, rs6556416, rs6871626, rs6887695 and rs7709212 in the IL-12B gene were genotyped by iMLDR Assay technology in 400 patients [96% (384/400 HLA-B27(+] and 395 geographically and ethnically matched healthy controls in mainland Han Chinese population. The correlation between IL-12B genetic polymorphisms and AS activity index (BASDAI, BASFI were tested.The significant difference was found in genotype distribution between AS and healthy controls (χ2 = 6.942, P-value = 0.031 of the SNP rs6871626. Furthermore, significant evidence was also detected under the recessive model for minor allele A. The AA genotype carrier had 1.830 fold risk compared with C allele carrier (with CC and AC genotypes [OR (95% CI = 1.830 (1.131-2.961, P-value = 0.014]. Nevertheless, the difference was no longer significant after Bonferroni correction. Subset analysis on cases with HLA-B27(+ did find the same results. Three genotypic groups (AA, CC and CA in rs6871626 site was highly associated with the BASDAI and BASFI (P-value = 0.012 and P-value = 0.023, respectively, after adjustment for effect of age, sex, and disease duration, the P-value was 0.031 and 0.041, respectively. The AA genotype of rs6871626 was also significantly correlated with an increased BASDAI and BASFI compared to the AC and CC genotypes in AS patients.Our findings suggest that rs6871626 may be associated AS susceptibility and with disease activity (BASDAI, BASFI in mainland Han Chinese population.

  7. Paraoxonase (PON1 55 polymorphism and association with systemic lupus erythematosus.

    Directory of Open Access Journals (Sweden)

    Fariborz Bahrehmand

    2013-09-01

    Full Text Available Paraoxonase-1 (PON1 is a serum HDL-bound enzyme that hydrolyzes a number of aromatic carboxylic acid esters including lipid peroxides, preventing LDL oxidation. Systemic lupus erythematosus (SLE patients are at greater risk of oxidative stress, which is associated with abnormal plasma lipid metabolism. In this study, association of PON-55 polymorphism with serum arylesterase (ARE activities, malondialdehyde (MDA, neopterin, lipids and lipoproteins levels in SLE patients and the development of hypertension was investigated. The present case-control study consisted of 109 SLE patients with and without high blood pressure (BP and 103 healthy controls from the population in the west of Iran. PON-55 Metpolymorphism was detected by restriction fragment length polymorphism (PCR-RFLP, serum ARE activity, MDA, neoptrin, lipid and apolipoprotein levels were determined by spectrophotometery and HPLC and enzyme assay, respectively. The presence of PON-55 M/M genotype was found to be associated with SLE and the development of high BP. The SLE patients with PON-M (M/L+M/M allele had significantly lower serum ARE activity, but higher neoptrin and LDL-C than the carriers of corresponding genotypes in control group. The ARE activity was positively correlated with HDL-C and negatively correlated with LDL-C and MDA levels in SLE patients. Whereas, in SLE patients with high BP, ARE activity was only found to be negatively correlated with MDA concentration. These data suggest that PON-55 M/M genotype is a risk factor for SLE. The carriers of this allele have high levels of MDA, neopterin and LDL-C, thus, they are more likely to develop hypertension.

  8. Association of Toll-like receptor 2 Arg753Gln and Toll-like receptor 1 Ile602Ser single-nucleotide polymorphisms with leptospirosis in an Argentine population.

    Science.gov (United States)

    Cédola, Maia; Chiani, Yosena; Pretre, Gabriela; Alberdi, Lucrecia; Vanasco, Bibiana; Gómez, Ricardo M

    2015-06-01

    Toll-like receptor 2 (TLR2), a member of the Toll-like receptor family, plays an important role in the recognition of and subsequent immune response activation against leptospirosis in humans. The genetic polymorphism in TLR2 of an arginine to glutamine substitution at residue 753 (Arg753Gln) has been associated with a negative influence on TLR2 function, which may, in turn, determine the innate host response to Leptospira spp. This bacterium signals through TLR2/TLR1 heterodimers in human cells. The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study. The TLR2 polymorphism adenine (A) allele was observed in 7.3% of leptospirosis patients but was not found in the control group, whereas the guanine (G) allele of the TLR1 polymorphism was found in 63.6% of patients and 41.6% of controls. Susceptibility to leptospirosis disease was increased 10.57-fold for carriers of the TLR2 G/A genotype (P=0.0493) and 3.85-fold for carriers of the TLR1 G/G genotype (P=0.0428). Furthermore, the risk of developing hepatic insufficiency and jaundice was increased 18.86- and 27.60-fold for TLR2 G/A carriers, respectively. Similarly, the risk of developing jaundice was increased 12.67-fold for TLR1 G allele carriers (G/G and T/G genotypes). In conclusion, the present data suggest that the TLR2 Arg753Gln and TLR1 Ile602Ser SNPs influence the risk of developing leptospirosis and its severity.

  9. Polymorphous computing fabric

    Science.gov (United States)

    Wolinski, Christophe Czeslaw; Gokhale, Maya B.; McCabe, Kevin Peter

    2011-01-18

    Fabric-based computing systems and methods are disclosed. A fabric-based computing system can include a polymorphous computing fabric that can be customized on a per application basis and a host processor in communication with said polymorphous computing fabric. The polymorphous computing fabric includes a cellular architecture that can be highly parameterized to enable a customized synthesis of fabric instances for a variety of enhanced application performances thereof. A global memory concept can also be included that provides the host processor random access to all variables and instructions associated with the polymorphous computing fabric.

  10. The common polymorphism of apolipoprotein E

    DEFF Research Database (Denmark)

    Gerdes, Ulrik

    2003-01-01

    Apolipoprotein E (apoE) has important functions in systemic and local lipid transport, but also has other functions. The gene (APOE) shows a common polymorphism with three alleles--APOE*2, APOE*3, and APOE*4. Their frequencies vary substantially around the world, but APOE*3 is the most common alm...... is associated with varying risk of cardiovascular disease and Alzheimer's disease, but other interesting aspects may emerge in the future....... from only 10-15% in southern Europe to 40-50% in the north. The gradient may be a trace of the demic expansion of agriculture that began about 10,000 years ago, but it may also reflect the possibility that APOE*4 carriers are less likely to develop vitamin D deficiency. The common APOE polymorphism...

  11. Lack of neural compensatory mechanisms of BDNF val66met met carriers and APOE E4 carriers in healthy aging, mild cognitive impairment, and Alzheimer's disease.

    Science.gov (United States)

    Gomar, Jesus J; Conejero-Goldberg, Concepcion; Huey, Edward D; Davies, Peter; Goldberg, Terry E

    2016-03-01

    Compromises in compensatory neurobiologic mechanisms due to aging and/or genetic factors (i.e., APOE gene) may influence brain-derived neurotrophic factor (BDNF) val66met polymorphism effects on temporal lobe morphometry and memory performance. We studied 2 cohorts from Alzheimer's Disease Neuroimaging Initiative: 175 healthy subjects and 222 with prodromal and established Alzheimer's disease. Yearly structural magnetic resonance imaging and cognitive performance assessments were carried out over 3 years of follow-up. Both cohorts had similar BDNF Val/Val and Met allele carriers' (including both Val/Met and Met/Met individuals) distribution. In healthy subjects, a significant trend for thinner posterior cingulate and precuneus cortices was detected in Met carriers compared to Val homozygotes in APOE E4 carriers, with large and medium effect sizes, respectively. The mild cognitive impairment/Alzheimer's disease cohort showed a longitudinal decline in entorhinal thickness in BDNF Met carriers compared to Val/Val in APOE E4 carriers, with effect sizes ranging from medium to large. In addition, an effect of BDNF genotype was found in APOE E4 carriers for episodic memory (logical memory and ADAS-Cog) and semantic fluency measures, with Met carriers performing worse in all cases. These findings suggest a lack of compensatory mechanisms in BDNF Met carriers and APOE E4 carriers in healthy and pathological aging.

  12. Maintainable substrate carrier for electroplating

    Science.gov (United States)

    Chen, Chen-An [Milpitas, CA; Abas, Emmanuel Chua [Laguna, PH; Divino, Edmundo Anida [Cavite, PH; Ermita, Jake Randal G [Laguna, PH; Capulong, Jose Francisco S [Laguna, PH; Castillo, Arnold Villamor [Batangas, PH; Ma,; Xiaobing, Diana [Saratoga, CA

    2012-07-17

    One embodiment relates to a substrate carrier for use in electroplating a plurality of substrates. The carrier includes a non-conductive carrier body on which the substrates are placed and conductive lines embedded within the carrier body. A plurality of conductive clip attachment parts are attached in a permanent manner to the conductive lines embedded within the carrier body. A plurality of contact clips are attached in a removable manner to the clip attachment parts. The contact clips hold the substrates in place and conductively connecting the substrates with the conductive lines. Other embodiments, aspects and features are also disclosed.

  13. Maintainable substrate carrier for electroplating

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Chen-An; Abas, Emmanuel Chua; Divino, Edmundo Anida; Ermita, Jake Randal G.; Capulong, Jose Francisco S.; Castillo, Arnold Villamor; Ma, Diana Xiaobing

    2016-08-02

    One embodiment relates to a substrate carrier for use in electroplating a plurality of substrates. The carrier includes a non-conductive carrier body on which the substrates are placed and conductive lines embedded within the carrier body. A plurality of conductive clip attachment parts are attached in a permanent manner to the conductive lines embedded within the carrier body. A plurality of contact clips are attached in a removable manner to the clip attachment parts. The contact clips hold the substrates in place and conductively connecting the substrates with the conductive lines. Other embodiments, aspects and features are also disclosed.

  14. Charge-carrier relaxation dynamics in highly ordered poly( p -phenylene vinylene): Effects of carrier bimolecular recombination and trapping

    Science.gov (United States)

    Soci, Cesare; Moses, Daniel; Xu, Qing-Hua; Heeger, Alan J.

    2005-12-01

    We have studied the charge-carrier relaxation dynamics in highly ordered poly( p -phenylene vinylene) over a broad time range using fast (t>100ps) transient photoconductivity measurements. The carrier density was also monitored (t>100fs) by means of photoinduced absorption probed at the infrared active vibrational modes. We find that promptly upon charge-carrier photogeneration, the initial polaron dynamics is governed by bimolecular recombination, while later in the subnanosecond time regime carrier trapping gives rise to an exponential decay of the photocurrent. The more sensitive transient photocurrent measurements indicate that in the low excitation regime, when the density of photocarriers is comparable to that of the trapping states (˜1016cm-3) , carrier hopping between traps along with transport via extended states determines the carrier relaxation, a mechanism that is manifested by a long-lived photocurrent “tail.” This photocurrent tail is reduced by lowering the temperature and/or by increasing the excitation density. Based on these data, we develop a comprehensive kinetic model that takes into account the bipolar charge transport, the free-carrier bimolecular recombination, the carrier trapping, and the carrier recombination involving free and trapped carriers.

  15. Polymorphism of methylenetetrahydrofolate reductase gene is associated with response to fluorouracil-based chemotherapy in Chinese patients with gastric cancer

    Institute of Scientific and Technical Information of China (English)

    Zhang Xiaoping; Bai Zhibin; Chen Baoan; Feng Jifeng; Yan Feng; Jiang Zhi; Zhong Yuejiao

    2014-01-01

    Background The importance of polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene for the prediction of the response to fluorouracil-based adjuvant chemotherapy in gastric cancer patients remains unclear.The aim of this study is to assess the predictive value of several polymorphisms of the MTHFR gene for clinical outcomes of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population.Methods Three hundred and sixty-two Chinese patients with gastric cancer were treated with fluorouracil-based adjuvant chemotherapy.DNA samples were isolated from peripheral blood collected before treatment.The three single nucleotide polymorphisms (SNPs) (rs1801131,rs1801133,rs2274976) genotypes of the MTHFR gene were determined by matrixassisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS).Results The average response rate for chemotherapy was 46.7%.Homozygous genotypes rs2274976G/G (x2=22.7,P <0.01) and rs1801131A/A (x2=14.3,P=0.008) were over-represented in responsive patients.Carriers of the rs2274976A allele genotypes (G/A and A/A) and of the rs1801131C allele genotypes (A/C and C/C) were prevalent in nonresponsive patients.In the haplotype association analysis,there was a significant difference in global haplotype distribution between the groups (x2=20.69,P=0.000 124).Conclusions These results suggest that polymorphisms of the MTHFR gene may be used as predictors of the response to fluorouracil-based chemotherapy for gastric cancer patients in Chinese population.Well-designed,comprehensive,and prospective studies on determining these polymorphisms of MTHFR gene as clinical markers for predicting the response to fluorouracil-based therapy in gastric cancer patients is warranted.

  16. Impact of the -1438G>a polymorphism in the serotonin 2A receptor gene on anthropometric profile and obesity risk: a case-control study in a Spanish Mediterranean population.

    Science.gov (United States)

    Sorlí, José V; Francés, Francesc; González, José I; Guillén, Marisa; Portolés, Olga; Sabater, Antonio; Coltell, Oscar; Corella, Dolores

    2008-01-01

    Research into the genetic factors that regulate food intake is arousing great interest. The polymorphism -1438G>A in the serotonin 2A receptor or 5-hydroxytriptamine (5-HT) type 2A receptor (5-HTR2A) gene has been associated with alterations in food intake such as anorexia and bulimia. However, its association with obesity has not been studied to the same extent. Our aim, therefore, was to estimate the association between the -1438G>A polymorphism and obesity risk and related anthropometric variables in a Spanish Mediterranean population. A case-control study including 303 cases and 606 controls paired by gender and age was undertaken. The association between the -1438G>A polymorphism and obesity and other anthropometric measures was studied. No association with obesity risk was observed. However, when only the obese group was analyzed, it was observed that AA subjects presented a lower body mass index (BMI) than G allele carriers (35.2+/-5.3 kg/m2 vs 37.5+/-7.8 kg/m2; P=0.039). Moreover, significant differences were also obtained in waist perimeter that was lower in AA subjects compared to G allele carriers (105+/-11 cm vs 112+/-17 cm; P=0.011). In conclusion, although the -1438G>A polymorphism is not a relevant marker for obesity risk, this variant may play a role in determining BMI in obese subjects.

  17. Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; The NHLBI Family Heart Study

    Directory of Open Access Journals (Sweden)

    Tobin Jennifer E

    2008-05-01

    Full Text Available Abstract Background The chromosome 7q32 region is linked to metabolic syndrome and obesity related traits in the Family Heart Study. As part of a fine mapping study of the region, we evaluated the relationship of polymorphisms to fasting glucose levels and Type 2 diabetes. Methods Thirty-nine HapMap defined tag SNPs in a 1.08 Mb region and a novel deletion polymorphism were genotyped in 2,603 participants of the NHLBI Family Heart Study (FHS. Regression modeling, adjusting for BMI, age, sex, smoking and the TCF7L2 polymorphism, was used to evaluate the association of these polymorphisms with T2D and fasting glucoses levels. Results The deletion polymorphism confers a protective effect for T2D, with homozygous deletion carriers having a 53% reduced risk compared to non-deleted carriers. Among non-diabetics, the deletion was significantly associated with lower fasting glucose levels in men (p = 0.038 but not women (p = 0.118. In addition, seven SNPs near the deletion were significantly associated (p Conclusion Chromosome 7q32 contains both SNPs and a deletion that were associated to T2D. Although the deletion region contains several islands of strongly conserved sequence, it is not known to contain a transcribed gene. The closest nearby gene, EXOC4, is involved in insulin-stimulated glucose transport and may be a candidate for this association. Further work is needed to determine if the deletion represents a functional variant or may be in linkage disequilibrium with a functional mutation influencing EXOC4 or another nearby gene.

  18. Active cigarette smoking and the risk of breast cancer at the level of N-acetyltransferase 2 (NAT2) gene polymorphisms.

    Science.gov (United States)

    Kasajova, Petra; Holubekova, Veronika; Mendelova, Andrea; Lasabova, Zora; Zubor, Pavol; Kudela, Erik; Biskupska-Bodova, Kristina; Danko, Jan

    2016-06-01

    The aim of our study was to assess the correlation between the tobacco exposure and NAT2 gene (rs1041983 C/T, rs1801280 T/C, rs1799930 G/A) polymorphisms in association with breast cancer development. We wanted to determine the prognostic clinical importance of these polymorphisms in association with smoking and breast cancer. For the detection of possible association between smoking, NAT2 gene polymorphisms, and the risk of breast cancer, we designed a case-controlled study with 198 patients enrolled, 98 breast cancer patients and 100 healthy controls. Ten milliliters of peripheral blood from the cubital vein was withdrawn from every patient. The HRM (high resolution melting) analysis was used for the detection of three abovementioned NAT2 gene polymorphisms. When comparing a group of women smoking more than 5 cigarettes a day with the patients smoking fewer than 5 cigarettes a day, we found out that if women were the carriers of aberrant AA genotype for rs1799930, the first group of women had higher risk of breast carcinoma than the second group. If patients were the carriers of aberrant TT genotype for rs1041983, for rs1801280CC genotype, and rs1799930AA genotype and they smoked more than 5 cigarettes a day, they had higher risk of malignant breast disease than never-smoking women. Our results confirm the hypothesis that NAT2 gene polymorphisms (rs1041983 C/T, rs1801280 T/C, and rs1799930 G/A) in association with long-period active smoking could be the possible individual risk-predicting factors for breast cancer development in the population of Slovak women.

  19. Glycosylation of solute carriers

    DEFF Research Database (Denmark)

    Pedersen, Nis Borbye; Carlsson, Michael C; Pedersen, Stine Helene Falsig

    2016-01-01

    as their posttranslational regulation, but only relatively little is known about the role of SLC glycosylation. Glycosylation is one of the most abundant posttranslational modifications of animal proteins and through recent advances in our understanding of protein-glycan interactions, the functional roles of SLC......Solute carriers (SLCs) are one of the largest groups of multi-spanning membrane proteins in mammals and include ubiquitously expressed proteins as well as proteins with highly restricted tissue expression. A vast number of studies have addressed the function and organization of SLCs as well...

  20. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Roberts, R.G.; Cole, C.G.; Hart, K.A.; Bobrow, M.; Bentley, D.R. (Guy' s Hospital, London (England))

    1989-01-25

    Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD) by DNA methods uses Southern blotting to detect either the informative segregation of restriction fragment length polymorphisms (RFLPs) or the absence of restriction fragments in affected males. Recently, the use of the polymerase chain reaction (PCR) for rapid detection of deletions in some affected males was reported eliminating the need for Southern blotting of 37% of all samples. This approach is not applicable, however, to non-deletion cases or for carrier diagnosis. The authors have used PCR for rapid analysis of intragenic RFLPs to permit both carrier and prenatal diagnosis in the majority of familial cases.

  1. Distribution of genotypes C825T polymorphism G-protein β3-subunit gene in patients with hypertension depending on body mass index

    Directory of Open Access Journals (Sweden)

    Prystupa L.N.

    2015-09-01

    Full Text Available The aim of the study was to investigate the frequency of genotypes of C825T polymorphism G-protein β3-subunit gene (GNB3 in patients with arterial hypertension (AH, depending on body mass index (BMI. The study involved 155 patients with verified diagnosis of AH (study group and 50 healthy individuals (control group. The patients of the main group were divided into 3 groups according to BMI: I - 35 patients with normal body weight, II - 38 patients with overweight, III - 82 patients with obesity. We used general clinical, anthropometric, instrumental, molecular-genetic and statistical methods. Probability of differences in the frequency of alleles and genotypes was determined using χ² criteria. Pairwise comparison of groups was made using nonparametric Mann-Whitney test. The difference was considered statistically significant at p <0,05. Investigation of the distribution of genotypes C825T polymorphism GNB3 in patients with AH according to BMI showed statistically significant increase in the frequency of genotypes C / T and T / T and T allele in patients with overweight and obesity as compared with patients with normal body weight (χ² = 26 8; p <0.001. The risk of weight increase in AH patients with T allele carriers is 2,2 times higher than in C allele carriers. Association of C825T polymorphism of GNB3 with a tendency to obesity and overweight in patients with AH was proved.

  2. Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, L.S.; Hoffman, E.P. (Univ. of Pittsburgh Schoool of Medicine, Pittsburgh, PA (United States)); Tarleton, J. (Self Memorial Hospital, Greenwood, SC (United States)); Popovich, B. (Children' s Hosptial and Health Center, San Diego, CA (United States)); Seltzer, W.K. (Univ. of Colorado Health Sciences Center, Denver, CO (United States))

    1992-10-01

    The authors have developed a fast and accurate PCR-based linkage and carrier detection protocol for families of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients with or without detectable deletions of the dystrophin gene, using fluorescent PCR products analyzed on an automated sequencer. When a deletion is found in the affected male DMD/BMD patient by standard multiplex PCR, fluorescently labeled primers specific for the deleted and nondeleted exon(s) are used to amplify the DNA of at-risk female relatives by using multiplex PCR at low cycle number (20 cycles). The products are then quantitatively analyzed on an automatic sequencer to determine whether they are heterozygous for the deletion and thus are carriers. As a confirmation of the deletion data, and in cases in which a deletion is not found in the proband, fluorescent multiplex PCR linkage is done by using four previously described polymorphic dinucleotide sequences. The four (CA)[sub n] repeats are located throughout the dystrophin gene, making the analysis highly informative and accurate. The authors present the successful application of this protocol in families who proved refractory to more traditional analyses. 22 refs., 3 figs.

  3. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

    NARCIS (Netherlands)

    A.C. Antoniou (Antonis); J. Beesley (Jonathan); L. McGuffog (Lesley); O. Sinilnikova (Olga); S. Healey (Sue); S.L. Neuhausen (Susan); Y.C. Ding (Yuan); R. Rebbeck (Timothy); J.N. Weitzel (Jeffrey); H. Lynch (Henry); C. Isaacs (Claudine); P.A. Ganz (Patricia); G. Tomlinson (Gail); O.I. Olopade (Olofunmilayo); F.J. Couch (Fergus); X. Wang (Xing); N.M. Lindor (Noralane); V.S. Pankratz (Shane); P. Radice (Paolo); S. Manoukian (Siranoush); B. Peissel (Bernard); D. Zaffaroni (D.); M. Barile (Monica); A. Viel (Alessandra); A. Allavena (Anna); V. Dall'Olio (Valentina); P. Peterlongo (Paolo); C. Szabo (Csilla); M. Zikan (Michal); K. Claes (Kathleen); B. Poppe (Bruce); L. Foretova (Lenka); P.L. Mai (Phuong); M.H. Greene (Mark); G. Rennert (Gad); F. Lejbkowicz (Flavio); G. Glendon (Gord); H. Ozcelik (Hilmi); I.L. Andrulis (Irene); M. Thomassen (Mads); A-M. Gerdes (Anne-Marie); L. Sunde (Lone); D. Cruger (Dorthe); U.B. Jensen; M.A. Caligo (Maria); E. Friedman (Eitan); B. Kaufman (Bella); Y. Laitman (Yael); R. Milgrom (Roni); M. Dubrovsky (Maya); S. Cohen (Shimrit); Å. Borg (Åke); H. Jernström (H.); A. Lindblom (Annika); J. Rantala (Johanna); M. Stenmark-Askmalm (M.); B. Melin (Beatrice); K.L. Nathanson (Katherine); S.M. Domchek (Susan); A. Jakubowska (Anna); J. Lubinski (Jan); T. Huzarski (Tomasz); A. Osorio (Ana); A. Lasa (Adriana); M. Durán (Mercedes); M.I. Tejada; J. Godino (Javier); J. Benitez (Javier); U. Hamann (Ute); M. Kriege (Mieke); N. Hoogerbrugge (Nicoline); R.B. van der Luijt (Rob); C.J. van Asperen (Christi); P. Devilee (Peter); E.J. Meijers-Heijboer (Hanne); M.J. Blok (Marinus); C.M. Aalfs (Cora); F.B.L. Hogervorst (Frans); M.A. Rookus (Matti); M. Cook (Margaret); C.T. Oliver (Clare); D. Frost (Debra); D. Conroy (Don); D.G. Evans (Gareth); F. Lalloo (Fiona); G. Pichert (Gabriella); R. Davidson (Rosemarie); T.J. Cole (Trevor); J. Paterson (Joan); S.V. Hodgson (Shirley); P.J. Morrison (Patrick); M.E. Porteous (Mary); L.J. Walker (Lisa); M.J. Kennedy (John); H. Dorkins (Huw); S. Peock (Susan); A.K. Godwin (Andrew); D. Stoppa-Lyonnet (Dominique); A. de Pauw (Antoine); S. Mazoyer (Sylvie); V. Bonadona (Valérie); C. Lasset (Christine); H. Dreyfus (Hélène); D. Leroux (Dominique); A. hardouin (Agnès); P. Berthet (Pascaline); L. Faivre (Laurence); C. Loustalot (Catherine); T. Noguchi (Tetsuro); H. Sobol (Hagay); E. Rouleau (Etienne); C. Nogues (Catherine); M. Frenay (Marc); L. Vénat-Bouvet (Laurence); J. Hopper (John); M.J. Daly (Mark); M-B. Terry (Mary-beth); E.M. John (Esther); S.S. Buys (Saundra); Y. Yassin (Yosuf); A. Miron (Alexander); D. Goldgar (David); C.F. Singer (Christian); C. Dressler (Catherina); D. Gschwantler-Kaulich (Daphne); G. Pfeiler (Georg); T.V.O. Hansen (Thomas); L. Jnson (Lars); B.A. Agnarsson (Bjarni); T. Kircchoff (Tomas); K. Offit (Kenneth); V. Devlin (Vincent); A. Dutra-Clarke (Ana); M. Piedmonte (Marion); G.C. Rodriguez (Gustavo); K. Wakeley (Katie); J.F. Boggess (John); J. Basil (Jack); P.E. Schwartz (Peter); S.V. Blank (Stephanie); A.E. Toland (Amanda); M. Montagna (Marco); C. Casella (Cinzia); E.N. Imyanitov (Evgeny); L. Tihomirova (Laima); I. Blanco (Ignacio); C. Lazaro (Conxi); S.J. Ramus (Susan); L. Sucheston (Lara); B.Y. Karlan (Beth); J. Gross (Jenny); R.K. Schmutzler (Rita); B. Wapenschmidt (Barbara); C. Engel (Christoph); A. Meindl (Alfons); M. Lochmann (Magdalena); N. Arnold (Norbert); S. Heidemann (Simone); R. Varon-Mateeva (Raymonda); D. Niederacher (Dieter); C. Sutter (Christian); H. Deissler (Helmut); D. Gadzicki (Dorothea); S. Preisler-Adams (Sabine); K. Kast (Karin); I. Schönbuchner (Ines); T. Caldes (Trinidad); M. de La Hoya (Miguel); K. Aittomäki (Kristiina); H. Nevanlinna (Heli); J. Simard (Jacques); A.B. Spurdle (Amanda); H. Holland (Helene); G. Chenevix-Trench (Georgia); R. Platte (Radka); D.F. Easton (Douglas)

    2010-01-01

    textabstractThe known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10,

  4. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Beesley, Jonathan; McGuffog, Lesley;

    2010-01-01

    The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs650495...

  5. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers : Implications for Risk Prediction

    NARCIS (Netherlands)

    Antoniou, Antonis C.; Beesley, Jonathan; McGuffog, Lesley; Sinilnikova, Olga M.; Healey, Sue; Neuhausen, Susan L.; Ding, Yuan Chun; Rebbeck, Timothy R.; Weitzel, Jeffrey N.; Lynch, Henry T.; Isaacs, Claudine; Ganz, Patricia A.; Tomlinson, Gail; Olopade, Olufunmilayo I.; Couch, Fergus J.; Wang, Xianshu; Lindor, Noralane M.; Pankratz, Vernon S.; Radice, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Barile, Monica; Viel, Alessandra; Allavena, Anna; Dall'Olio, Valentina; Peterlongo, Paolo; Szabo, Csilla I.; Zikan, Michal; Claes, Kathleen; Poppe, Bruce; Foretova, Lenka; Mai, Phuong L.; Greene, Mark H.; Rennert, Gad; Lejbkowicz, Flavio; Glendon, Gord; Ozcelik, Hilmi; Andrulis, Irene L.; Thomassen, Mads; Gerdes, Anne-Marie; Sunde, Lone; Cruger, Dorthe; Jensen, Uffe Birk; Caligo, Maria; Friedman, Eitan; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Dubrovsky, Maya; Cohen, Shimrit; Borg, Ake; Jernstroem, Helena; Lindblom, Annika; Rantala, Johanna; Stenmark-Askmalm, Marie; Melin, Beatrice; Nathanson, Kate; Domchek, Susan; Jakubowska, Ania; Lubinski, Jan; Huzarski, Tomasz; Osorio, Ana; Lasa, Adriana; Duran, Mercedes; Tejada, Maria-Isabel; Godino, Javier; Benitez, Javier; Hamann, Ute; Kriege, Mieke; Hoogerbrugge, Nicoline; van der Luijt, Rob B.; van Asperen, Christi J.; Devilee, Peter; Meijers-Heijboer, E. J.; Blok, Marinus J.; Aalfs, Cora M.; Hogervorst, Frans; Rookus, Matti; Cook, Margaret; Oliver, Clare; Frost, Debra; Conroy, Don; Evans, D. Gareth; Lalloo, Fiona; Pichert, Gabriella; Davidson, Rosemarie; Cole, Trevor; Cook, Jackie; Paterson, Joan; Hodgson, Shirley; Morrison, Patrick J.; Porteous, Mary E.; Walker, Lisa; Kennedy, M. John; Dorkins, Huw; Peock, Susan; Godwin, Andrew K.; Stoppa-Lyonnet, Dominique; de Pauw, Antoine; Mazoyer, Sylvie; Bonadona, Valerie; Lasset, Christine; Dreyfus, Helene; Leroux, Dominique; Hardouin, Agnes; Berthet, Pascaline; Faivre, Laurence; Loustalot, Catherine; Noguchi, Tetsuro; Sobol, Hagay; Rouleau, Etienne; Nogues, Catherine; Frenay, Marc; Venat-Bouvet, Laurence; Hopper, John L.; Daly, Mary B.; Terry, Mary B.; John, Esther M.; Buys, Saundra S.; Yassin, Yosuf; Miron, Alexander; Goldgar, David; Singer, Christian F.; Dressler, Anne Catharina; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Hansen, Thomas V. O.; Jnson, Lars; Agnarsson, Bjarni A.; Kirchhoff, Tomas; Offit, Kenneth; Devlin, Vincent; Dutra-Clarke, Ana; Piedmonte, Marion; Rodriguez, Gustavo C.; Wakeley, Katie; Boggess, John F.; Basil, Jack; Schwartz, Peter E.; Blank, Stephanie V.; Toland, Amanda Ewart; Montagna, Marco; Casella, Cinzia; Imyanitov, Evgeny; Tihomirova, Laima; Blanco, Ignacio; Lazaro, Conxi; Ramus, Susan J.; Sucheston, Lara; Karlan, Beth Y.; Gross, Jenny; Schmutzler, Rita; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Lochmann, Magdalena; Arnold, Norbert; Heidemann, Simone; Varon-Mateeva, Raymonda; Niederacher, Dieter; Sutter, Christian; Deissler, Helmut; Gadzicki, Dorothea; Preisler-Adams, Sabine; Kast, Karin; Schoenbuchner, Ines; Caldes, Trinidad; de la Hoya, Miguel; Aittomaeki, Kristiina; Nevanlinna, Heli; Simard, Jacques; Spurdle, Amanda B.; Holland, Helene; Chen, Xiaoqing; Platte, Radka; Chenevix-Trench, Georgia; Easton, Douglas F.

    2010-01-01

    The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 i

  6. Idealized powder diffraction patterns for cellulose polymorphs

    Science.gov (United States)

    Cellulose samples are routinely analyzed by X-ray diffraction to determine their crystal type (polymorph) and crystallinity. However, the connection is seldom made between those efforts and the crystal structures of cellulose that have been determined with synchrotron X-radiation and neutron diffrac...

  7. RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.

    Science.gov (United States)

    Antoniou, Antonis C; Sinilnikova, Olga M; Simard, Jacques; Léoné, Mélanie; Dumont, Martine; Neuhausen, Susan L; Struewing, Jeffery P; Stoppa-Lyonnet, Dominique; Barjhoux, Laure; Hughes, David J; Coupier, Isabelle; Belotti, Muriel; Lasset, Christine; Bonadona, Valérie; Bignon, Yves-Jean; Rebbeck, Timothy R; Wagner, Theresa; Lynch, Henry T; Domchek, Susan M; Nathanson, Katherine L; Garber, Judy E; Weitzel, Jeffrey; Narod, Steven A; Tomlinson, Gail; Olopade, Olufunmilayo I; Godwin, Andrew; Isaacs, Claudine; Jakubowska, Anna; Lubinski, Jan; Gronwald, Jacek; Górski, Bohdan; Byrski, Tomasz; Huzarski, Tomasz; Peock, Susan; Cook, Margaret; Baynes, Caroline; Murray, Alexandra; Rogers, Mark; Daly, Peter A; Dorkins, Huw; Schmutzler, Rita K; Versmold, Beatrix; Engel, Christoph; Meindl, Alfons; Arnold, Norbert; Niederacher, Dieter; Deissler, Helmut; Spurdle, Amanda B; Chen, Xiaoqing; Waddell, Nicola; Cloonan, Nicole; Kirchhoff, Tomas; Offit, Kenneth; Friedman, Eitan; Kaufmann, Bella; Laitman, Yael; Galore, Gilli; Rennert, Gad; Lejbkowicz, Flavio; Raskin, Leon; Andrulis, Irene L; Ilyushik, Eduard; Ozcelik, Hilmi; Devilee, Peter; Vreeswijk, Maaike P G; Greene, Mark H; Prindiville, Sheila A; Osorio, Ana; Benitez, Javier; Zikan, Michal; Szabo, Csilla I; Kilpivaara, Outi; Nevanlinna, Heli; Hamann, Ute; Durocher, Francine; Arason, Adalgeir; Couch, Fergus J; Easton, Douglas F; Chenevix-Trench, Georgia

    2007-12-01

    RAD51 is an important component of double-stranded DNA-repair mechanisms that interacts with both BRCA1 and BRCA2. A single-nucleotide polymorphism (SNP) in the 5' untranslated region (UTR) of RAD51, 135G-->C, has been suggested as a possible modifier of breast cancer risk in BRCA1 and BRCA2 mutation carriers. We pooled genotype data for 8,512 female mutation carriers from 19 studies for the RAD51 135G-->C SNP. We found evidence of an increased breast cancer risk in CC homozygotes (hazard ratio [HR] 1.92 [95% confidence interval {CI} 1.25-2.94) but not in heterozygotes (HR 0.95 [95% CI 0.83-1.07]; P=.002, by heterogeneity test with 2 degrees of freedom [df]). When BRCA1 and BRCA2 mutation carriers were analyzed separately, the increased risk was statistically significant only among BRCA2 mutation carriers, in whom we observed HRs of 1.17 (95% CI 0.91-1.51) among heterozygotes and 3.18 (95% CI 1.39-7.27) among rare homozygotes (P=.0007, by heterogeneity test with 2 df). In addition, we determined that the 135G-->C variant affects RAD51 splicing within the 5' UTR. Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers.

  8. RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

    Science.gov (United States)

    Antoniou, Antonis C. ; Sinilnikova, Olga M. ; Simard, Jacques ; Léoné, Mélanie ; Dumont, Martine ; Neuhausen, Susan L. ; Struewing, Jeffery P. ; Stoppa-Lyonnet, Dominique ; Barjhoux, Laure ; Hughes, David J. ; Coupier, Isabelle ; Belotti, Muriel ; Lasset, Christine ; Bonadona, Valérie ; Bignon, Yves-Jean ; Rebbeck, Timothy R. ; Wagner, Theresa ; Lynch, Henry T. ; Domchek, Susan M. ; Nathanson, Katherine L. ; Garber, Judy E. ; Weitzel, Jeffrey ; Narod, Steven A. ; Tomlinson, Gail ; Olopade, Olufunmilayo I. ; Godwin, Andrew ; Isaacs, Claudine ; Jakubowska, Anna ; Lubinski, Jan ; Gronwald, Jacek ; Górski, Bohdan ; Byrski, Tomasz ; Huzarski, Tomasz ; Peock, Susan ; Cook, Margaret ; Baynes, Caroline ; Murray, Alexandra ; Rogers, Mark ; Daly, Peter A. ; Dorkins, Huw ; Schmutzler, Rita K. ; Versmold, Beatrix ; Engel, Christoph ; Meindl, Alfons ; Arnold, Norbert ; Niederacher, Dieter ; Deissler, Helmut ; Spurdle, Amanda B. ; Chen, Xiaoqing ; Waddell, Nicola ; Cloonan, Nicole ; Kirchhoff, Tomas ; Offit, Kenneth ; Friedman, Eitan ; Kaufmann, Bella ; Laitman, Yael ; Galore, Gilli ; Rennert, Gad ; Lejbkowicz, Flavio ; Raskin, Leon ; Andrulis, Irene L. ; Ilyushik, Eduard ; Ozcelik, Hilmi ; Devilee, Peter ; Vreeswijk, Maaike P. G. ; Greene, Mark H. ; Prindiville, Sheila A. ; Osorio, Ana ; Benítez, Javier ; Zikan, Michal ; Szabo, Csilla I. ; Kilpivaara, Outi ; Nevanlinna, Heli ; Hamann, Ute ; Durocher, Francine ; Arason, Adalgeir ; Couch, Fergus J. ; Easton, Douglas F. ; Chenevix-Trench, Georgia 

    2007-01-01

    RAD51 is an important component of double-stranded DNA–repair mechanisms that interacts with both BRCA1 and BRCA2. A single-nucleotide polymorphism (SNP) in the 5′ untranslated region (UTR) of RAD51, 135G→C, has been suggested as a possible modifier of breast cancer risk in BRCA1 and BRCA2 mutation carriers. We pooled genotype data for 8,512 female mutation carriers from 19 studies for the RAD51 135G→C SNP. We found evidence of an increased breast cancer risk in CC homozygotes (hazard ratio [HR] 1.92 [95% confidence interval {CI} 1.25–2.94) but not in heterozygotes (HR 0.95 [95% CI 0.83–1.07]; P=.002, by heterogeneity test with 2 degrees of freedom [df]). When BRCA1 and BRCA2 mutation carriers were analyzed separately, the increased risk was statistically significant only among BRCA2 mutation carriers, in whom we observed HRs of 1.17 (95% CI 0.91–1.51) among heterozygotes and 3.18 (95% CI 1.39–7.27) among rare homozygotes (P=.0007, by heterogeneity test with 2 df). In addition, we determined that the 135G→C variant affects RAD51 splicing within the 5′ UTR. Thus, 135G→C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers. PMID:17999359

  9. Blood Pressure Levels in Male Carriers of Arg82Cys in CD300LG

    DEFF Research Database (Denmark)

    Støy, Julie; Grarup, Niels; Hørlyck, Arne

    2014-01-01

    (122 mmHg versus 115; p = 0.01) and diastolic blood pressure (77 mmHg versus 72; pgroups. Metalloproteinase-9 level was higher in CT-carriers than in CC-carriers (P... found to be associated with fasting HDL-cholesterol and triglyceride levels. The polymorphism has not been detected in hypertension GWAS potentially due to its low frequency, but CD300LG has been linked to blood pressure as CD300LG knockout mice have changes in blood pressure. Twenty......-four-hour ambulatory blood pressure was obtained in human CD300LG CT-carriers to follow up on these observations. METHODS: Twenty healthy male CD300LG rs72836561 CT-carriers matched for age and BMI with 20 healthy male CC-carriers. Office blood pressure, 24-hour ambulatory blood pressure, carotid intima...

  10. Association of polymorphisms of the ADIPOQ, ADIPOR1 and ADIPOR2 genes with type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Dmitry Sergeevich Khodyrev

    2015-03-01

    Full Text Available The study of hereditary predisposition to multifactorial diseases is essential for diagnosis and selection of the optimal treatment. The study of polymorphisms of candidate genes whose products are involved in the pathogenesis of multifactorial diseases is of great clinical importance.Aim.The aim of this study was to investigate the association of rs2241766 and rs1501299 polymorphisms in the ADIPOQ gene, rs2275737 and rs2275738 polymorphisms in the ADIPOR1 gene and rs11061971 and rs16928751 polymorphisms in the ADIPOR2 gene with the development of type 2 diabetes mellitus (T2DM in the Russian population.Materials and methods.The study included a group of 500 patients with T2DM diagnosed based on standard diagnostic criteria (T2DM+. The control group (T2DM- was a random sample of 500 patients with no evidence of the disease and was matched to the T2DM+ group for gender, age and body mass index. The determination of alleles and genotypes was performed using real-time polymerase chain reaction with TaqMan probes. The χ2 test and contingency tables were used to compare the distribution of allele and genotype frequencies. A p-value of <0.05 was considered to be statistically significant.Results.Comparative analysis of the distribution of alleles and genotypes indicated an association between T2DM and the disease gene polymorphic marker rs11061971 ADIPOR2 (р = 0.004 for the distribution of alleles, р = 0.011 for the distribution of genotypes. The presence of allele A and genotype AA decreased the risk of development of T2DM (OR = 0.76 and 0.75, respectively, whereas the T allele carriers and TT genotype were associated with an increased risk of developing T2DM (OR = 1.31 and 1.63, respectively. There was no statistically significant association between T2DM and polymorphic markers of ADIPOQ or ADIPOR1 genes.Conclusions.Based on this data, polymorphism of the ADIPOR2 gene in the Russian population is associated with the development of T2DM, but

  11. LIQUIFIED NATURAL GAS (LNG CARRIERS

    Directory of Open Access Journals (Sweden)

    Daniel Posavec

    2010-12-01

    Full Text Available Modern liquefied natural gas carriers are double-bottom ships classified according to the type of LNG tank. The tanks are specially designed to store natural gas cooled to -161°C, the boiling point of methane. Since LNG is highly flammable, special care must be taken when designing and operating the ship. The development of LNG carriers has begun in the middle of the twentieth century. LNG carrier storage space has gradually grown to the current maximum of 260000 m3. There are more than 300 LNG carriers currently in operation (the paper is published in Croatian.

  12. The DRD2 rs1076560 polymorphism and schizophrenia-related intermediate phenotypes: A systematic review and meta-analysis.

    Science.gov (United States)

    Luykx, Jurjen J; Broersen, Juliette L; de Leeuw, Max

    2017-03-01

    Intermediate phenotypes may contribute to elucidate the genetic determinants of schizophrenia. A regulatory dopamine 2-receptor gene (DRD2) polymorphism (rs1076560; G>T) has been identified as a genetic risk factor for schizophrenia. Studies report conflicting results on its involvement in schizophrenia intermediate phenotypes and no systematic review on this topic has been published. Therefore, we aimed to assess whether this polymorphism is implicated in schizophrenia intermediate phenotypes by performing a systematic review and meta-analysis. Alternative allele carrier status negatively affected all intermediate phenotypes except for brain morphology, for which inconsistent genotype effects were found. Specifically, alternative allele carriers showed inefficient brain recruitment in healthy subjects and decreased brain recruitment in schizophrenia patients. Finally, significant results of the meta-analysis on functional magnetic resonance imaging in healthy subjects pinpointed rs1076560-associated brain regions, in particular the fronto-striatal network. To increase homogeneity and thus improve comparability in future genetic studies investigating SCZ intermediate phenotypes, we highlight methodological caveats and provide suggestions to circumvent such pitfalls.

  13. Two orthorhombic polymorphs of hydromorphone

    Directory of Open Access Journals (Sweden)

    Jaroslaw Mazurek

    2016-05-01

    Full Text Available Conditions to obtain two polymorphic forms by crystallization from solution were determined for the analgesic drug hydromorphone [C17H19NO3; systematic name: (4R,4aR,7aR,12bS-9-hydroxy-3-methyl-1,2,4,4a,5,6,7a,13-octahydro-4,12-methanobenzofuro[3,2-e]isoquinolin-7-one]. These two crystalline forms, designated as I and II, belong to the P212121 orthorhombic space group. In both polymorphs, the hydromorphone molecules adopt very similar conformations with some small differences observed only in the N-methyl amine part of the molecule. The crystal structures of both polymorphs feature chains of molecules connected by hydrogen bonds; however, in form I this interaction occurs between the hydroxyl group and the tertiary amine N atom whereas in form II the hydroxyl group acts as a donor of a hydrogen bond to the O atom from the cyclic ether part.

  14. Polymorphism of tedisamil dihydrochloride.

    Science.gov (United States)

    Henck, J O; Finner, E; Burger, A

    2000-09-01

    The results of studies on tedisamil dihydrochloride in the solid state demonstrate that the compound occurs in three polymorphic forms. The three modifications have been characterized by thermomicroscopy, differential scanning calorimetry (DSC), vibrational spectroscopy, solid-state nuclear magnetic resonance (NMR), and X-ray powder diffractometry (XRPD). The thermodynamic relationships are illustrated in a semischematic energy/temperature diagram that gives information about the relative stability and physical properties of the three modifications between 0 K and the melting temperatures. The three modifications are enantiotropically related. Modification II, the material obtained during manufacturing, is the thermodynamically stable crystal form at 20 degrees C. The thermodynamic transition point of mod II with I (instant melting point: 248-250 degrees C) is between 100 and approximately 140 degrees C (DeltaH(t,II/I) = 4.4+/-0.8 kJ/mol (95% CI)). A phase transition of mod II (probably into mod III) was detected thermomicroscopically at about -180 degrees C. The thermodynamic transition point of mod III with I was determined to be at -9 to -6 degrees C. Because mods I and III are thermodynamically and kinetically unstable at ambient conditions, these crystal forms are of analytical interest.

  15. Macrophage Migration Inhibitory Factor Promoter Polymorphisms (−794 CATT5–8 and −173 G>C): Relationship with mRNA Expression and Soluble MIF Levels in Young Obese Subjects

    Science.gov (United States)

    Matia-García, Inés; Salgado-Goytia, Lorenzo; Muñoz-Valle, José F.; García-Arellano, Samuel; Hernández-Bello, Jorge; Salgado-Bernabé, Aralia B.; Parra-Rojas, Isela

    2015-01-01

    We analyzed the relationship of −794 CATT5–8 and −173 G>C MIF polymorphisms with mRNA and soluble MIF in young obese subjects. A total of 250 young subjects, 150 normal-weight and 100 obese subjects, were recruited in the study. Genotyping of −794 CATT5–8 and −173 G>C MIF polymorphisms was performed by PCR and PCR-RFLP, respectively. MIF mRNA expression was determined by real-time PCR and serum MIF levels were measured using an ELISA kit. For both MIF promoter polymorphisms, no significant differences in the genotype and allele frequencies between groups were observed. MIF mRNA expression was slightly higher in obese subjects than in normal-weight subjects (1.38-fold), while soluble MIF levels did not show differences between groups. In addition, we found an increase in MIF mRNA expression in carriers of the 6,6 and C/C genotypes and the 6G haplotype of the −794 CATT5–8 and −173 G>C MIF polymorphisms, although it was not significant. In conclusion, this study found no relationship between obesity and MIF gene promoter polymorphisms with MIF mRNA expression in young obese subjects. PMID:25972622

  16. Macrophage Migration Inhibitory Factor Promoter Polymorphisms (−794 CATT5–8 and −173 G>C: Relationship with mRNA Expression and Soluble MIF Levels in Young Obese Subjects

    Directory of Open Access Journals (Sweden)

    Inés Matia-García

    2015-01-01

    Full Text Available We analyzed the relationship of −794 CATT5–8 and −173 G>C MIF polymorphisms with mRNA and soluble MIF in young obese subjects. A total of 250 young subjects, 150 normal-weight and 100 obese subjects, were recruited in the study. Genotyping of −794 CATT5–8 and −173 G>C MIF polymorphisms was performed by PCR and PCR-RFLP, respectively. MIF mRNA expression was determined by real-time PCR and serum MIF levels were measured using an ELISA kit. For both MIF promoter polymorphisms, no significant differences in the genotype and allele frequencies between groups were observed. MIF mRNA expression was slightly higher in obese subjects than in normal-weight subjects (1.38-fold, while soluble MIF levels did not show differences between groups. In addition, we found an increase in MIF mRNA expression in carriers of the 6,6 and C/C genotypes and the 6G haplotype of the −794 CATT5–8 and −173 G>C MIF polymorphisms, although it was not significant. In conclusion, this study found no relationship between obesity and MIF gene promoter polymorphisms with MIF mRNA expression in young obese subjects.

  17. The brain-derived neurotrophic factor (BDNF) val66met polymorphism differentially affects performance on subscales of the Wechsler Memory Scale - Third Edition (WMS-III).

    Science.gov (United States)

    Lamb, Yvette N; Thompson, Christopher S; McKay, Nicole S; Waldie, Karen E; Kirk, Ian J

    2015-01-01

    Single nucleotide polymorphisms in the brain-derived neurotrophic factor (BDNF) gene and the catechol-O-methyltransferase (COMT) gene influence brain structure and function, as well as cognitive abilities. They are most influential in the hippocampus and prefrontal cortex (PFC), respectively. Recall and recognition are forms of memory proposed to have different neural substrates, with recall having a greater dependence on the PFC and hippocampus. This study aimed to determine whether the BDNF val(66)met or COMT val(158)met polymorphisms differentially affect recall and recognition, and whether these polymorphisms interact. A sample of 100 healthy adults was assessed on recall and familiarity-based recognition using the Faces and Family Pictures subscales of the Wechsler Memory Scale - Third Edition (WMS-III). COMT genotype did not affect performance on either task. The BDNF polymorphism (i.e., met carriers relative to val homozygotes) was associated with poorer recall ability, while not influencing recognition. Combining subscale scores in memory tests such as the WMS might obscure gene effects. Our results demonstrate the importance of distinguishing between recall and familiarity-based recognition in neurogenetics research.

  18. The brain-derived neurotrophic factor (BDNF val66met polymorphism differentially affects performance on subscales of the Wechsler memory scale – third edition (WMS-III

    Directory of Open Access Journals (Sweden)

    Yvette Nicole Lamb

    2015-08-01

    Full Text Available Single nucleotide polymorphisms in the brain-derived neurotrophic factor (BDNF gene and the catechol-O-methyltransferase (COMT gene influence brain structure and function, as well as cognitive abilities. They are most influential in the hippocampus and prefrontal cortex (PFC, respectively. Recall and recognition are forms of memory proposed to have different neural substrates, with recall having a greater dependence on the PFC and hippocampus. This study aimed to determine whether the BDNF val66met or COMT val158met polymorphisms differentially affect recall and recognition, and whether these polymorphisms interact. A sample of 100 healthy adults was assessed on recall and familiarity-based recognition using the Faces and Family Pictures subscales of the Wechsler Memory Scale – Third Edition (WMS-III. COMT genotype did not affect performance on either task. The BDNF polymorphism (i.e. met carriers relative to val homozygotes was associated with poorer recall ability, while not influencing recognition. Combining subscale scores in memory tests such as the WMS might obscure gene effects. Our results demonstrate the importance of distinguishing between recall and familiarity-based recognition in neurogenetics research.

  19. The BCL2 -938C>A Promoter Polymorphism Is Associated with Risk for and Time to Aseptic Loosening of Total Hip Arthroplasty.

    Science.gov (United States)

    Stelmach, Patrick; Wedemeyer, Christian; Fuest, Lena; Kurscheid, Gina; Gehrke, Thorsten; Klenke, Stefanie; Jäger, Marcus; Kauther, Max D; Bachmann, Hagen S

    2016-01-01

    Aseptic loosening is a major cause of revision surgery of total hip arthroplasty (THA). Only few host factors affecting aseptic loosening have been identified until now, although they are urgently needed to identify and possibly treat those patients at higher risk for aseptic loosening. To determine whether the functional single nucleotide polymorphism (SNP) c.-938C>A (rs2279115), located in the promoter region of the BCL2 gene has an impact on aseptic loosening of THA we genotyped and analyzed 234 patients suffering from aseptic loosening and 231 patients after primary THA. The polymorphism is associated with risk for aseptic loosening with the CC genotype at highest risk for aseptic loosening, Odds Ratio CC vs. AA 1.93, 95%CI 1.15-3.25, p = 0.013. In contrast, low risk AA genotype carriers that still developed aseptic loosening showed a significantly shorter time to aseptic loosening than patients carrying the C allele (p = 0.004). These results indicate that the BCL2 -938C>A polymorphism influences the occurrence and course of aseptic loosening and suggests this polymorphism as an interesting candidate for prospective studies and analyses in THA registers.

  20. The BCL2 -938C>A Promoter Polymorphism Is Associated with Risk for and Time to Aseptic Loosening of Total Hip Arthroplasty.

    Directory of Open Access Journals (Sweden)

    Patrick Stelmach

    Full Text Available Aseptic loosening is a major cause of revision surgery of total hip arthroplasty (THA. Only few host factors affecting aseptic loosening have been identified until now, although they are urgently needed to identify and possibly treat those patients at higher risk for aseptic loosening. To determine whether the functional single nucleotide polymorphism (SNP c.-938C>A (rs2279115, located in the promoter region of the BCL2 gene has an impact on aseptic loosening of THA we genotyped and analyzed 234 patients suffering from aseptic loosening and 231 patients after primary THA. The polymorphism is associated with risk for aseptic loosening with the CC genotype at highest risk for aseptic loosening, Odds Ratio CC vs. AA 1.93, 95%CI 1.15-3.25, p = 0.013. In contrast, low risk AA genotype carriers that still developed aseptic loosening showed a significantly shorter time to aseptic loosening than patients carrying the C allele (p = 0.004. These results indicate that the BCL2 -938C>A polymorphism influences the occurrence and course of aseptic loosening and suggests this polymorphism as an interesting candidate for prospective studies and analyses in THA registers.

  1. Monoamine oxidase A polymorphism moderates stability of attention problems and susceptibility to life stress during adolescence.

    Science.gov (United States)

    Zohsel, K; Bianchi, V; Mascheretti, S; Hohm, E; Schmidt, M H; Esser, G; Brandeis, D; Banaschewski, T; Nobile, M; Laucht, M

    2015-11-01

    Attention problems affect a substantial number of children and adolescents and are predictive of academic underachievement and lower global adaptive functioning. Considerable variability has been observed with regard to the individual development of attention problems over time. In particular, the period of adolescence is characterized by substantial maturation of executive functioning including attentional processing, with the influence of genetic and environmental factors on individual trajectories not yet well understood. In the present investigation, we evaluated whether the monoamine oxidase A functional promoter polymorphism, MAOA-LPR, plays a role in determining continuity of parent-rated attention problems during adolescence. At the same time, a potential effect of severe life events (SLEs) was taken into account. A multi-group path analysis was used in a sample of 234 adolescents (149 males, 85 females) who took part in an epidemiological cohort study at the ages of 11 and 15 years. Attention problems during early adolescence were found to be a strong predictor of attention problems in middle adolescence. However, in carriers of the MAOA-LPR low-activity variant (MAOA-L), stability was found to be significantly higher than in carriers of the high-activity variant (MAOA-H). Additionally, only in MAOA-L carriers did SLEs during adolescence significantly impact on attention problems at the age of 15 years, implying a possible gene × environment interaction. To conclude, we found evidence that attention problems during adolescence in carriers of the MAOA-L allele are particularly stable and malleable to life stressors. The present results underline the usefulness of applying a more dynamic GxE perspective.

  2. Leasing in low-cost carriers

    OpenAIRE

    Aleixo, José Frederico Pais

    2014-01-01

    The aim of this paper is to explore the use of aircraft leasing as a financing instrument in the low-cost carriers’ sector. These airlines have been showing a huge growth in the customers’ preferences, while aircraft leasing plays a relevant role in the financing options of airlines. In this study we determined that lease future commitments represent on average 80% of other debt commitments in low-cost carriers. Furthermore, we discovered that the leasing rate in low-cost ai...

  3. Distress of ostracism: oxytocin receptor gene polymorphism confers sensitivity to social exclusion

    OpenAIRE

    McQuaid, Robyn J.; McInnis, Opal A.; Matheson, Kimberly; Anisman, Hymie

    2015-01-01

    A single-nucleotide polymorphism on the oxytocin receptor gene (OXTR), rs53576, involving a guanine (G) to adenine (A) substitution has been associated with altered prosocial features. Specifically, individuals with the GG genotype (i.e. the absence of the polymorphism) display beneficial traits including enhanced trust, empathy and self-esteem. However, because G carriers might also be more socially sensitive, this may render them more vulnerable to the adverse effects of a negative social s...

  4. Polymorphic infection and organogenesis patterns induced by a Rhizobium leguminosarum isolate from Lotus root nodules are determined by the host genotype.

    Science.gov (United States)

    Gossmann, Jasmin A; Markmann, Katharina; Brachmann, Andreas; Rose, Laura E; Parniske, Martin

    2012-10-01

    To sample the natural variation in genes controlling compatibility in the legume-rhizobium symbiosis, we isolated rhizobia from nodules of endemic Lotus species from 21 sites across Europe. The majority of isolates were identified as Mesorhizobium- or Bradyrhizobium-related and formed nitrogen-fixing root nodules on Lotus corniculatus and L. pendunculatus, respectively, thus confirming previously defined cross-inoculation groups. Rhizobium leguminosarum (Rl) strain Norway, isolated from L. corniculatus nodules, displayed an exceptional phenotypic variation on different Lotus genotypes. On L. burttii, Rl Norway formed infected nodules, whereas tumors and elongated infected swellings were induced on L. glaber and L. japonicus ecotype Nepal, respectively. A symbiosis- and Nod-factor-responsive promoter:uidA fusion was strongly and rapidly induced in L. japonicus Gifu, but infection threads or signs of nodule organogenesis were absent. This complex phenotypic pattern was not mimicked by either of three engineered R. leguminosarum bv viciae strains producing different Nod-factor variants. Intriguingly, Rl Norway formed infection threads on Pisum sativum cv Sparkle, but failed to induce organogenesis. Rl Norway thus uncovered variation in symbiotic capabilities among diploid Lotus species and ecotypes that are obscured by optimally adapted M. loti strains. These contrasting infection and organogenesis phenotypes reveal recent diversification of recognition determinants in Lotus.

  5. Gender-Specific Differences in the Association of Adiponectin Gene Polymorphisms with Body Mass Index

    Science.gov (United States)

    Tabatabaei-Malazy, Ozra; Hasani-Ranjbar, Shirin; Amoli, Mahsa M.; Heshmat, Ramin; Sajadi, Mohammadali; Derakhshan, Reza; Amiri, Parvin; Namakchian, Mahsa; Rezazadeh, Ebrahim; Tavakkoly-Bazzaz, Javad; Keshtkar, Abbasali; Larijani, Bagher

    2010-01-01

    OBJECTIVE: Adiponectin gene polymorphisms are associated with obesity, metabolic syndrome and type 2 diabetes (T2D). The study evaluated possible associations of +45T/G and -11391G/A adiponectin gene polymorphisms with body mass index (BMI), waist circumferences (WC), and blood pressure in diabetic and non-diabetic Iranians. METHODS: This cross-sectional study involved two groups of subjects: 243 diabetic patients and 173 non-diabetic subjects recruited from Rafsanjan city in the south-east of Iran. RESULTS: No significant association was found between +45T/G and -11391G/A adiponectin gene polymorphisms and systolic or diastolic blood pressure. However, male carriers of the TT genotype of +45T/G had a significantly higher mean BMI than male GG homozygotes (p = 0.018). Also, male carriers of the GG genotype of -11391G/A had significantly higher mean BMI than male GA or AA homozygotes (p = 0.041). Female carriers of the GG genotype of -11391G/A had significantly higher mean WC than female GA or AA homozygotes (p = 0.038). CONCLUSIONS: We observed a significantly higher BMI in women, and GA or AA carriers of -11391G/A polymorphism. Also, there was a significantly lower WC in females and GG carriers of +45T/G. These results point to a gender-specific impact of the studied genotypes on BMI and WC. PMID:21409316

  6. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

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    Loncarevic Ivan F

    2004-12-01

    Full Text Available Abstract Background Defensins are important components of innate immunity to combat bacterial and viral infections, and can even elicit antitumor responses. Clusters of defensin (DEF genes are located in a 2 Mb range of the human chromosome 8p23.1. This DEF locus, however, represents one of the regions in the euchromatic part of the final human genome sequence which contains segmental duplications, and recalcitrant gaps indicating high structural dynamics. Results We find that inter- and intraindividual genetic variations within this locus prevent a correct automatic assembly of the human reference genome (NCBI Build 34 which currently even contains misassemblies. Manual clone-by-clone alignment and gene annotation as well as repeat and SNP/haplotype analyses result in an alternative alignment significantly improving the DEF locus representation. Our assembly better reflects the experimentally verified variability of DEF gene and DEF cluster copy numbers. It contains an additional DEF cluster which we propose to reside between two already known clusters. Furthermore, manual annotation revealed a novel DEF gene and several pseudogenes expanding the hitherto known DEF repertoire. Analyses of BAC and working draft sequences of the chimpanzee indicates that its DEF region is also complex as in humans and DEF genes and a cluster are multiplied. Comparative analysis of human and chimpanzee DEF genes identified differences affecting the protein structure. Whether this might contribute to differences in disease susceptibility between man and ape remains to be solved. For the determination of individual DEF gene repertoires we provide a molecular approach based on DEF haplotypes. Conclusions Complexity and variability seem to be essential genomic features of the human DEF locus at 8p23.1 and provides an ongoing challenge for the best possible representation in the human reference sequence. Dissection of paralogous sequence variations, duplicon SNPs ans

  7. 42 CFR 421.200 - Carrier functions.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 3 2010-10-01 2010-10-01 false Carrier functions. 421.200 Section 421.200 Public...) MEDICARE PROGRAM MEDICARE CONTRACTING Carriers § 421.200 Carrier functions. A contract between CMS and a carrier specifies the functions to be performed by the carrier. The contract may include any or all of...

  8. Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and post-stroke dementia: a hospital-based study from northern Iran.

    Science.gov (United States)

    Rezaei, Sajjad; Asgari Mobarake, Karim; Saberi, Alia; Keshavarz, Parvaneh; Leili, Ehsan Kazemnejad

    2016-06-01

    Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism is associated with functional and cognitive outcomes of stroke and plays a key role in preventing neuronal death. This study aimed to answer the following question: does BDNF Val66Met polymorphism prognosticate survival status and risk of post-stroke dementia (PSD)? In a retrospective cohort study, 206 patients with ischemic stroke (IS) entered the study. They were consecutively being admitted to the neurology clinic in Poursina Hospital (northern Iran) from 2012 to 2014. The diagnosis of PSD was based on DSM-5 criteria. The current and the premorbid cognitive statuses of the patients were respectively assessed through the third edition of Addenbrooke's Cognitive Examination and the Informant Questionnaire on Cognitive Decline in the Elderly. BDNF Val66Met gene polymorphism was determined by PCR-RFLP. On average, 48 patients (23.3 %) developed PSD 6 months after IS. Log-rank test showed that the survival rate of at least one Val-allele carriers was significantly lower than that of Met/Met homozygotes (P = 0.0005), and the former developed PSD sooner than the latter (375, 492 days, respectively). Cox model showed that heterozygous carriers of Val/Met were at greater risk of PSD over time (HR 2.280, 95 % CI 1.566-4.106, P = 0.006). However, the risk ratio of patients with PSD among different BDNF genotypes decreased after adjusting demographic, clinical, and vascular risk factors, and was no longer statistically significant (AHR 2.434, 95 % CI 0.597-9.926, P = 0.215). Val-allele carriers or Val/Met genotypes were more quickly diagnosed as having dementia after IS. However, this genetic vulnerability became more destructive when it was added to demographic, clinical, and vascular risk factors.

  9. CYP1A1 (Ile462Val), CYP1B1 (Ala119Ser and Val432Leu), GSTM1 (null), and GSTT1 (null) polymorphisms and bladder cancer risk in a Turkish population.

    Science.gov (United States)

    Berber, Ufuk; Yilmaz, Ismail; Yilmaz, Omer; Haholu, Aptullah; Kucukodaci, Zafer; Ates, Ferhat; Demirel, Dilaver

    2013-01-01

    We aimed to investigate bladder cancer risk with reference to polymorphic variants of cytochrome p450 (CYP) 1A1, CYP1B1, glutathione S-transferase (GST) M1, and GSTT1 genes in a case control study. Polymorphisms were examined in 114 bladder cancer patients and 114 age and sex-matched cancer-free subjects. Genotypes were determined using allele specific PCR for CYP1A1 and CYP1B1 genes, and by multiplex PCR and melting curve analysis for GSTM1 and GSTT1 genes. Our results revealed a statistically significant increased bladder cancer risk for GSTT1 null genotype carriers with an odds ratio of 3.06 (95% confidence interval=1.39-6.74, p=0.006). Differences of CYP1A1, CYP1B1 and GSTM1 genotype frequencies were not statistically significant between patients and controls. However, the specific combination of GSTM1 null, GSTT1 null, and CYP1B1 codon 119 risk allele carriers and specific combination of GSTM1 present, GSTT1 null, and CYP1B1 432 risk allele carriers exhibited increased cancer risk in the combined analysis. We did not observe any association between different genotype groups and prognostic tumor characteristics of bladder cancer. Our results indicate that inherited absence of GSTT1 gene may be associated with bladder cancer susceptibility, and specific combinations of GSTM1, GSTT1 and CYP1B1 gene polymorphisms may modify bladder cancer risk in the Turkish population, without any association being observed for CYP1A1 gene polymorphism and bladder cancer risk.

  10. Identification of complex vertebral malformation carriers in Chinese Holstein.

    Science.gov (United States)

    Chu, Qin; Sun, Dongxiao; Yu, Ying; Zhang, Yi; Zhang, Yuan

    2008-03-01

    Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the nucleotide position 559 in bovine solute carrier family 35, member 3 gene (SLC35A3), which changes the amino acid sequence of uridine 5'-diphosphate-N-acetylglucosamine transporter protein from a valine to a phenylalanine in position 180. The elite U.S. Holstein sire Penstate Ivanhoe Star was identified as the common ancestor of the current CVM carriers. Because his offspring, mainly those of Carlin-M Ivanhoe Bell, were used in many countries, CVM has potentially spread into China. In the present study, using the polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) technique, 10 CVM carriers were found among 68 at-risk Chinese Holstein bulls, and 282 carriers were found among 602 at-risk cows. The results of this study indicate that the CVM gene exists in the Chinese Holstein population.

  11. Effect of metallothionein 2A gene polymorphism on allele-specific gene expression and metal content in prostate cancer

    Energy Technology Data Exchange (ETDEWEB)

    Krześlak, Anna; Forma, Ewa [Department of Cytobiochemistry, University of Łódź, Pomorska 141/143, 90-236 Łódź (Poland); Chwatko, Grażyna [Department of Environmental Chemistry, University of Łódź, Pomorska 163, 90-236 Łódź (Poland); Jóźwiak, Paweł; Szymczyk, Agnieszka [Department of Cytobiochemistry, University of Łódź, Pomorska 141/143, 90-236 Łódź (Poland); Wilkosz, Jacek; Różański, Waldemar [2nd Department of Urology, Medical University of Łódź, Pabianicka 62, 93-513 Łódź (Poland); Bryś, Magdalena, E-mail: zreg@biol.uni.lodz.pl [Department of Cytobiochemistry, University of Łódź, Pomorska 141/143, 90-236 Łódź (Poland)

    2013-05-01

    Metallothioneins (MTs) are highly conserved, small molecular weight, cysteine rich proteins. The major physiological functions of metallothioneins include homeostasis of essential metals Zn and Cu and protection against cytotoxicity of heavy metals. The aim of this study was to determine whether there is an association between the − 5 A/G single nucleotide polymorphism (SNP; rs28366003) in core promoter region and expression of metallothionein 2A (MT2A) gene and metal concentration in prostate cancer tissues. MT2A polymorphism was determined by the polymerase chain reaction–restriction fragment length polymorphism technique (PCR–RFLP) using 412 prostate cancer tissue samples. MT2A gene expression analysis was performed by real-time RT-PCR method. A significant association between rs28366003 genotype and MT2A expression level was found. The average mRNA level was found to be lower among minor allele carriers (the risk allele) than average expression among homozygotes for the major allele. Metal levels were analyzed by flamed atomic absorption spectrometer system. Highly statistically significant associations were detected between the SNP and Cd, Zn, Cu and Pb levels. The results of Spearman's rank correlation showed that the expressions of MT2A and Cu, Pb and Ni concentrations were negatively correlated. On the basis of the results obtained in this study, we suggest that SNP polymorphism may affect the MT2A gene expression in prostate and this is associated with some metal accumulation. - Highlights: • MT2A gene expression and metal content in prostate cancer tissues • Association between SNP (rs28366003) and expression of MT2A • Significant associations between the SNP and Cd, Zn, Cu and Pb levels • Negative correlation between MT2A gene expression and Cu, Pb and Ni levels.

  12. Determining

    Directory of Open Access Journals (Sweden)

    Bahram Andarzian

    2015-06-01

    Full Text Available Wheat production in the south of Khuzestan, Iran is constrained by heat stress for late sowing dates. For optimization of yield, sowing at the appropriate time to fit the cultivar maturity length and growing season is critical. Crop models could be used to determine optimum sowing window for a locality. The objectives of this study were to evaluate the Cropping System Model (CSM-CERES-Wheat for its ability to simulate growth, development, grain yield of wheat in the tropical regions of Iran, and to study the impact of different sowing dates on wheat performance. The genetic coefficients of cultivar Chamran were calibrated for the CSM-CERES-Wheat model and crop model performance was evaluated with experimental data. Wheat cultivar Chamran was sown on different dates, ranging from 5 November to 9 January during 5 years of field experiments that were conducted in the Khuzestan province, Iran, under full and deficit irrigation conditions. The model was run for 8 sowing dates starting on 25 October and repeated every 10 days until 5 January using long-term historical weather data from the Ahvaz, Behbehan, Dezful and Izeh locations. The seasonal analysis program of DSSAT was used to determine the optimum sowing window for different locations as well. Evaluation with the experimental data showed that performance of the model was reasonable as indicated by fairly accurate simulation of crop phenology, biomass accumulation and grain yield against measured data. The normalized RMSE were 3%, 2%, 11.8%, and 3.4% for anthesis date, maturity date, grain yield and biomass, respectively. Optimum sowing window was different among locations. It was opened and closed on 5 November and 5 December for Ahvaz; 5 November and 15 December for Behbehan and Dezful;and 1 November and 15 December for Izeh, respectively. CERES-Wheat model could be used as a tool to evaluate the effect of sowing date on wheat performance in Khuzestan conditions. Further model evaluations

  13. PPARγ Pro12Ala and ACE ID polymorphisms are associated with BMI and fat distribution, but not metabolic syndrome

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    Passaro Angela

    2011-12-01

    Full Text Available Abstract Background Metabolic Syndrome (MetS results from the combined effect of environmental and genetic factors. We investigated the possible association of peroxisome proliferator-activated receptor-γ2 (PPARγ2 Pro12Ala and Angiotensin Converting Enzyme (ACE I/D polymorphisms with MetS and interaction between these genetic variants. Methods Three hundred sixty four unrelated Caucasian subjects were enrolled. Waist circumference, blood pressure, and body mass index (BMI were recorded. Body composition was estimated by impedance analysis; MetS was diagnosed by the NCEP-ATPIII criteria. A fasting blood sample was obtained for glucose, insulin, lipid profile determination, and DNA isolation for genotyping. Results The prevalence of MetS did not differ across PPARγ2 or ACE polymorphisms. Carriers of PPARγ2 Ala allele had higher BMI and fat-mass but lower systolic blood pressure compared with Pro/Pro homozygotes. A significant PPARγ2 gene-gender interaction was observed in the modulation of BMI, fat mass, and blood pressure, with significant associations found in women only. A PPARγ2-ACE risk genotype combination for BMI and fat mass was found, with ACE DD/PPARγ2 Ala subjects having a higher BMI (p = 0.002 and Fat Mass (p = 0.002. Pro12Ala was independently associated with waist circumference independent of BMI and gender. Conclusions Carriers of PPARγ2 Ala allele had higher BMI and fat-mass but not a worse metabolic profile, possibly because of a more favorable adipose tissue distribution. A gene interaction exists between Pro12Ala and ACE I/D on BMI and fat mass. Further studies are needed to assess the contribution of Pro12Ala polymorphism in adiposity distribution.

  14. Impact of lipoprotein lipase gene polymorphisms on ulcerative colitis

    Institute of Scientific and Technical Information of China (English)

    Toshihito Kosaka; Taizou Shiraishi; Masatoshi Watanabe; Takayuki Yamamoto; Ai Nakahara; Takahiko Katoh; Junji Yoshino; Kazuo Inui; Takao Wakabayashi; Kazumu Okushima; Takashi Kobayashi; Hironao Miyoshi; Yuta Nakamura; Shigekazu Hayashi

    2006-01-01

    AIM: To examine the influence of lipoprotein lipase (LPL)gene polymorphism in ulcerative colitis (UC) patients.METHODS: Peripheral blood was obtained from 131 patients with UC and 106 healthy controls for DNA extraction. We determined LPL gene polymorphisms affecting the enzyme at Ser447stop, as well as Hind Ⅲ and Pvu Ⅱ polymorphisms using PCR techniques. PCR products were characterized by PCR-RFLP and direct sequencing.Polymorphisms were examined for association with clinical features in UC patients. Genotype frequencies for LPL polymorphisms were also compared between UC patients and controls.RESULTS: In patients with onset at age 20 years or younger, C/G and G/G genotypes for Ser447stop polymorphism were more prevalent than C/C genotype (OR= 3.13, 95% CI = 0.95-10.33). Patients with H+/- or H-/-genotype for HindⅢ polymorphism also were more numerous than those with H+/+ genotype (OR = 2.51, 95%CI = 0.85-7.45). In the group with H+/+ genotype for HindⅢ polymorphism, more patients had serum triglyceride concentrations over 150 mg/dL than patients with H+/- or H-/- genotype (P < 0.01, OR = 6.46, 95% CI =1.39-30.12). Hypertriglycemia was also more prevalent in patients with P+/+ genotypes for Pvu Ⅱ polymorphism (P< 0.05, OR = 3.0, 95% CI = 1.06-8.50). Genotype frequency for LPL polymorphism did not differ significantly between UC patients and controls.CONCLUSION: Ser447stop and HindⅢ LPL polymorphisms may influence age of onset of UC, while HindⅢand PvuⅡ polymorphisms influence serum triglyceride in UC patients.

  15. Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

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    Mónica Alejandra Anaya-Segura

    2016-08-01

    Full Text Available Duchenne Muscular Dystrophy (DMD is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unknown mutations. The lack of informative markers and the inaccuracy of CK affect carrier detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats assays to amplify 10 loci within the DMD gene and estimated allele frequencies and the polymorphism information content among other parameters in 337 unrelated individuals from three Mexican populations. In addition, we tested the utility of the assays for carrier detection in three families. Moreover, given that serum levels of miR-206 discern between DMD patients and controls with a high area under the curve (AUC, the potential applicability for carrier detection was assessed. The serum levels of miR-206 of non-carriers (n = 24 and carriers (n = 23 were compared by relative quantitation using real-time PCR (p < 0.05, which resulted in an AUC = 0.80 in the Receiver Operating Characteristic curve analysis. In conclusion, miR-206 has potential as a “liquid biopsy” for carrier detection and genetic counseling in DMD.

  16. Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

    Science.gov (United States)

    Anaya-Segura, Mónica Alejandra; Rangel-Villalobos, Héctor; Martínez-Cortés, Gabriela; Gómez-Díaz, Benjamín; Coral-Vázquez, Ramón Mauricio; Zamora-González, Edgar Oswaldo; García, Silvia; López-Hernández, Luz Berenice

    2016-01-01

    Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unknown mutations. The lack of informative markers and the inaccuracy of CK affect carrier detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats) assays to amplify 10 loci within the DMD gene and estimated allele frequencies and the polymorphism information content among other parameters in 337 unrelated individuals from three Mexican populations. In addition, we tested the utility of the assays for carrier detection in three families. Moreover, given that serum levels of miR-206 discern between DMD patients and controls with a high area under the curve (AUC), the potential applicability for carrier detection was assessed. The serum levels of miR-206 of non-carriers (n = 24) and carriers (n = 23) were compared by relative quantitation using real-time PCR (p < 0.05), which resulted in an AUC = 0.80 in the Receiver Operating Characteristic curve analysis. In conclusion, miR-206 has potential as a “liquid biopsy” for carrier detection and genetic counseling in DMD. PMID:27529242

  17. Stability and metastability of bromine clathrate polymorphs.

    Science.gov (United States)

    Nguyen, Andrew H; Molinero, Valeria

    2013-05-23

    Clathrate hydrates are crystals in which water forms a network of fully hydrogen-bonded polyhedral cages that contain small guests. Clathrate hydrates occur mostly in two cubic crystal polymorphs, sI and sII. Bromine is one of two guests that yield a hydrate with the tetragonal structure (TS), the topological dual of the Frank-Kasper σ phase. There has been a long-standing disagreement on whether bromine hydrate also forms metastable sI and sII crystals. To date there are no data on the thermodynamic range of stability (e.g., the melting temperatures) of the metastable polymorphs. Here we use molecular dynamics simulations with the coarse-grained model of water mW to (i) investigate the thermodynamic stability of the empty and guest-filled the sI, sII, TS, and HS-I hydrate polymorphs, (ii) develop a coarse-grained model of bromine compatible with mW water, and (iii) evaluate the stability of the bromine hydrate polymorphs. The mW model predicts the same relative energy of the empty clathrate polymorphs and the same phase diagram as a function of water-guest interaction than the fully atomistic TIP4P water model. There is a narrow region in water-guest parameter space for which TS is marginally more stable than sI or sII. We parametrize a coarse-grained model of bromine compatible with mW water and use it to determine the order of stability of the bromine hydrate polymorphs. The melting temperatures of the bromine hydrate polymorphs predicted by the coarse-grained model are 281 ± 1 K for TS, 279 ± 1 K for sII, and 276 ± 1 K for sI. The closeness of the melting temperatures supports the plausibility of formation of metastable sII and sI bromine hydrates.

  18. Basic Stand Alone Carrier Line Items PUF

    Data.gov (United States)

    U.S. Department of Health & Human Services — This release contains the Basic Stand Alone (BSA) Carrier Line Items Public Use Files (PUF) with information from Medicare Carrier claims. The CMS BSA Carrier Line...

  19. PPARA intron polymorphism associated with power performance in 30-s anaerobic Wingate Test.

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    Miroslav Petr

    Full Text Available To date, polymorphisms in several genes have been associated with a strength/power performance including alpha 3 actinin, ciliary neurotrophic factor, vitamin D receptor, or angiotensin I converting enzyme, underlining the importance of genetic component of the multifactorial strength/power-related phenotypes. The single nucleotide variation in peroxisome proliferator-activated receptor alpha gene (PPARA intron 7 G/C (rs4253778; g.46630634G>C has been repeatedly found to play a significant role in response to different types of physical activity. We investigated the effect of PPARA intron 7 G/C polymorphism specifically on anaerobic power output in a group of 77 elite male Czech ice hockey players (18-36 y. We determined the relative peak power per body weight (Pmax.kg(-1 and relative peak power per fat free mass (W.kg(-1FFM during the 30-second Wingate Test (WT30 on bicycle ergometer (Monark 894E Peak bike, MONARK, Sweden. All WT30s were performed during the hockey season. Overall genotype frequencies were 50.6% GG homozygotes, 40.3% CG heterozygotes, and 9.1% CC homozygotes. We found statistically significant differences in Pmax.kg(-1 and marginally significant differences in Pmax.kg(-1FFM values in WT30 between carriers and non-carriers for C allele (14.6 ± 0.2 vs. 13.9 ± 0.3 W.kg(-1 and 15.8 ± 0.2 vs. 15.2 ± 0.3 W.kg(-1FFM, P = 0.036 and 0.12, respectively. Furthermore, Pmax.kg(-1FFM strongly positively correlated with the body weight only in individuals with GG genotypes (R = 0.55; p<0.001. Our results indicate that PPARA 7C carriers exhibited higher speed strength measures in WT30. We hypothesize that C allele carriers within the cohort of trained individuals may possess a metabolic advantage towards anaerobic metabolism.

  20. PAI-1 mRNA expression and plasma level in rheumatoid arthritis: relationship with 4G/5G PAI-1 polymorphism.

    Science.gov (United States)

    Muñoz-Valle, José Francisco; Ruiz-Quezada, Sandra Luz; Oregón-Romero, Edith; Navarro-Hernández, Rosa Elena; Castañeda-Saucedo, Eduardo; De la Cruz-Mosso, Ulises; Illades-Aguiar, Berenice; Leyva-Vázquez, Marco Antonio; Castro-Alarcón, Natividad; Parra-Rojas, Isela

    2012-12-01

    Rheumatoid arthritis (RA) is a chronic inflammatory disease affecting the synovial membrane, cartilage and bone. PAI-1 is a key regulator of the fibrinolytic system through which plasminogen is converted to plasmin. The plasmin activates the matrix metalloproteinase system, which is closely related with the joint damage and bone destruction in RA. The aim of this study was to investigate the relationship between 4G/5G PAI-1 polymorphism with mRNA expression and PAI-1 plasma protein levels in RA patients. 113 RA patients and 123 healthy subjects (HS) were included in the study. The 4G/5G PAI-1 polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism method; the PAI-1 mRNA expression was determined by real-time PCR; and the soluble PAI-1 (sPAI-1) levels were quantified using an ELISA kit. No significant differences in the genotype and allele frequencies of 4G/5G PAI-1 polymorphism were found between RA patients and HS. However, the 5G/5G genotype was the most frequent in both studied groups: RA (42%) and HS (44%). PAI-1 mRNA expression was slightly increased (0.67 fold) in RA patients with respect to HS (P = 0.0001). In addition, in RA patients, the 4G/4G genotype carriers showed increased PAI-1 mRNA expression (3.82 fold) versus 4G/5G and 5G/5G genotypes (P = 0.0001), whereas the sPAI-1 plasma levels did not show significant differences. Our results indicate that the 4G/5G PAI-1 polymorphism is not a marker of susceptibility in the Western Mexico. However, the 4G/4G genotype is associated with high PAI-1 mRNA expression but not with the sPAI-1 levels in RA patients.

  1. Polymorphisms of the SAMHD1 Gene Are Not Associated with the Infection and Natural Control of HIV Type 1 in Europeans and African-Americans

    Science.gov (United States)

    Coon, Sirena; Wang, Danxin

    2012-01-01

    Abstract The HIV-1 restriction factor SAM domain and HD domain-containing protein 1 (SAMHD1) blocks HIV-1 infection in human myeloid cells. Mutations in the SAMHD1 gene are associated with rare genetic diseases including Aicardi–Goutieres syndrome. However, it is unknown whether polymorphisms of SAMHD1 are associated with infection and natural control of HIV-1 in humans. Our objective was to determine whether the expression of SAMHD1 mRNA is affected by common single nucleotide polymorphisms (SNPs) in SAMHD1 and whether the SNPs are associated with HIV-1 infection status. Using a tagging SNP approach, we determined the association between eight tagging SNPs in SAMHD1 and the mRNA expression in B-lymphocyte cell lines from 70 healthy white donors. We identified one SNP (rs1291142) that was significantly associated with SAMHD1 mRNA expression, with minor allele carriers having 30% less mRNA levels (p=0.015). However, after analyzing the published genome-wide association study data of 857 HIV-1 controllers and 2088 HIV-1 progressors from the European and African-American cohorts, we did not find a significant association between SNPs in SAMHD1 and HIV-1 infection status, including SNP rs1291142 (p>0.05). We also observed 2- to 6-fold variations of SAMHD1 mRNA levels in primary B-lymphocytes, CD4+ T-lymphocytes, and CD14+ monocytes from five healthy donors. Our results suggest that common regulatory polymorphism(s) exist in the SAMHD1 gene that affects its mRNA expression in B-lymphocyte cell lines from healthy whites. However, polymorphisms of SAMHD1 are unlikely to contribute to the infection and natural control of HIV-1 in European and African-American individuals. PMID:22530776

  2. Obesity-related gene ADRB2, ADRB3 and GHRL polymorphisms and the response to a weight loss diet intervention in adult women

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    Louise F. Saliba

    2014-01-01

    Full Text Available The individual response to diet may be influenced by gene polymorphisms. This study hypothesized that ADRB2 (Gln27Glu, rs1042714 and Arg16Gly, rs1042713, ADRB3 (Trp64Arg, rs4994 and GHRL (Leu72Met, rs696217 polymorphisms moderate weight loss. The study was a seven weeks dietary weight loss intervention with Brazilian adult obese women (n = 109. The body mass index (BMI was calculated and polymorphisms in these genes were assessed by real-time PCR assays. Two-way repeated-measures ANOVA (2 x 2 were used to analyze the intervention effect between polymorphisms and BMI over the period and after stratification for age and socioeconomic status (SES. The weight loss intervention resulted in decreased BMI over the seven-week period (p < 0.001, for high and low SES (p < 0.05 and mainly for participants with 30-49 y. The intervention did not result in a statistically significant difference in weight loss between polymorphism carriers and non-carriers, and although, the ADRB2, ADRB3 and GHRL polymorphisms did not moderate weight loss, the Gln27Glu polymorphism carriers showed a lower BMI compared to non-carriers in the low SES (p = 0.018 and the 30-39 y (p = 0.036 groups, suggesting a role for this polymorphism related to BMI control.

  3. [DISTRIBUTION OF GENOTYPES OF C825T POLYMORPHISM β3-SUBUNIT G-PROTEIN GENE IN PATIENTS WITH ARTERIAL HYPERTENSION ACCORDING THE DEGREE OF OBESITY].

    Science.gov (United States)

    Moiseyenko, I; Prystupa, L; Garbuzova, V; Pogorielova, O; Opolonskaya, N

    2015-01-01

    Arterial hypertension (AH) and obesity - risk factors for cardiovascular diseases and their complications, leading to high morbidity and mortality. These nosologies notedly linked, because have common etiological factors, pathophysiological mechanisms and genetic determination. The aim this research was to analyze the distribution of genotypes of the C825T polymorphism of β3-subunit G-protein gene (GNB3) according the degree of obesity and to assess the risk of obesity in patients with AH. Patients were divided into three groups according the degree of obesity. We used clinical, anthropometric, instrumental, molecular-genetic and statistical methods. The significance of differences of alleles and genotypes frequency was determined by test χ². For comparing the groups used nonparametric Mann-Whitney and Kruskal-Wallis tests. A value of phypertension and obesity (χ² = 27,976, p obesity. The risk of obesity in T allele carriers was in 2.2 times higher than in C allele carriers in patients with AH. In summary, our study showed association of C825T polymorphism of the GNB3 with obesity, but did not prove the association this with the degree of obesity i patients with AH.

  4. Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers.

    Science.gov (United States)

    Houlle, Solene; Charbonnier, Françoise; Houivet, Estelle; Tinat, Julie; Buisine, Marie-Pierre; Caron, Olivier; Benichou, Jacques; Baert-Desurmont, Stéphanie; Frebourg, Thierry

    2011-08-01

    Several studies have reported that, in Lynch syndrome resulting from mutations of the mismatch repair (MMR) genes, a CA repeat ≤17 within the IGF1 promoter, SNPs within the xenobiotic metabolizing enzyme gene CYP1A1 and SNPs on 8q23.3 and 11q23.1 modify colorectal cancer (CRC) risk in MMR mutation carriers. We analysed the impact of these polymorphisms on CRC risk in 748 French MMR mutation carriers derived from 359 families. We also analysed the effect of the Novel 1 SNP (18q21), which has recently been shown to increase CRC risk in the general population. We observed a significant difference in the CRC-free survival time between males and females, between MSH2 and MSH6 mutation carriers and between MLH1 and MSH6, indicating that this series is representative of Lynch syndrome. In contrast, the univariate log-rank test, as well as multivariate Cox model analysis controlling for familial aggregation and mutated MMR gene, year of birth and gender showed that the polymorphic alleles tested were not associated with a significant CRC risk increase, neither on the entire sample nor among males and females. This discrepancy with previous reports might be explained both by the genetic heterogeneity between the different populations analysed and the allelic heterogeneity of the MMR mutations. We conclude that genotyping of these polymorphisms is not useful to evaluate CRC risk in MMR mutation carriers and to optimize their clinical follow-up.

  5. Gender-dependent association of HSD11B1 single nucleotide polymorphisms with glucose and HDL-C levels

    Directory of Open Access Journals (Sweden)

    Luciane Viater Turek

    2014-09-01

    Full Text Available In this study, we investigated the influence of two SNPs (rs846910 and rs12086634 of the HSD11B1 gene that encodes 11β-hydroxysteroid dehydrogenase type 1(11β-HSD1, the enzyme that catalyzes the conversion of cortisol to cortisone, on variables associated with obesity and metabolic syndrome in 215 individuals of both sexes from southern Brazil. The HSD11B1 gene variants were genotyped using the TaqMan SNP genotyping assay. Glucose, triglycerides, total cholesterol, HDL-cholesterol and LDL-cholesterol were measured by standard automated methods. Significant results were found in women, with carriers of the G allele of SNP rs12086634 having higher glucose levels than non-carriers. Carriers of the A allele of SNP rs846910 had higher levels of HDL-cholesterol. The involvement of both polymorphisms as independent factors in determining the levels of glucose and HDL-cholesterol was confirmed by multiple regression analysis (β = 0.19 ± 0.09, p = 0.03 and β = 0.22 ± 0.10, p = 0.03, respectively. Our findings suggest that the HSD11B1SNPs studied may indirectly influence glucose and HDL-cholesterol metabolism in women, possibly through down-regulation of the HSD11B1 gene by estrogen.

  6. A New Improved Variable Frequency Triangular Carrier-PWM with MOPSO Algorithm for Carrier Based PWM Techniques in Inverters

    Directory of Open Access Journals (Sweden)

    Mohammad Sadegh Orfi Yegane

    2017-02-01

    Full Text Available This paper investigates multi-carrier PWM methods in multi-level inverters. Two new MCPWM methods are introduced. This study proposes a new optimized MCPWM method to improve the output voltage characteristics like THD and LOH. The proposed method is based on variable frequency with a specific range. It means each carrier wave has a determined frequency. It is calling Variable Frequency Triangular Carrier-PWM. MOPSO algorithm is used to optimize the answers. This work considers some different levels of inverters like five, seven and nine levels. The results are compared with SPWM method.

  7. Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus

    DEFF Research Database (Denmark)

    Almind, K; Bjørbaek, C; Vestergaard, H

    1993-01-01

    the insulin-receptor and IGF1-receptor kinases with enzymes that regulate cellular metabolism and growth. Single-stranded conformation polymorphism analysis and direct nucleotide sequencing were applied to genomic DNA from 86 unrelated patients with NIDDM and 76 normoglycaemic controls. 10 of the patients...... with NIDDM and 3 of the controls were heterozygous at codon 972 for a polymorphism in which glycine was substituted with arginine. Moreover, at codon 513, 6 patients with NIDDM and 2 controls had a heterozygous polymorphism with a transition from alanine to proline. None of the polymorphism carriers had both...... aminoacid variants and the total allelic frequency of IRS-1 polymorphisms was about three times higher in patients with NIDDM than in controls (p = 0.02). Both aminoacid substitutions were located close to tyrosine phosphorylation motifs that are putative recognition sites for insulin and IGF1 signal...

  8. Risk modification of colorectal adenoma by CYP7A1 polymorphisms and the role of bile acid metabolism in carcinogenesis.

    Science.gov (United States)

    Wertheim, Betsy C; Smith, Jeffrey W; Fang, Changming; Alberts, David S; Lance, Peter; Thompson, Patricia A

    2012-02-01

    Cholesterol 7α-hydroxylase (CYP7A1), the rate-limiting enzyme in the conversion of cholesterol to bile acids, is a postulated gene modifier of colorectal cancer risk and target for the therapeutic bile acid, ursodeoxycholic acid (UDCA). We investigated associations between CYP7A1 polymorphisms and fecal bile acids, colorectal adenoma (CRA), and UDCA efficacy for CRA prevention. Seven tagging, single-nucleotide polymorphisms (SNP) in CYP7A1 were measured in 703 (355 UDCA, 348 placebo) participants of a phase III chemoprevention trial, of which 495 had known baseline fecal bile acid concentrations. In the placebo arm, participants with two minor G(rs8192871) alleles (tag for a low activity promoter polymorphism at -204) had lower odds of high secondary bile acids (OR = 0.26, 95% CI: 0.10-0.69), and CRA at 3 years' follow-up (OR = 0.41, 95% CI: 0.19-0.89), than AA carriers. Haplotype construction from the six polymorphic SNPs showed participants with the third most common haplotype (C(rs10957057)C(rs8192879)G(rs8192877)T(rs11786580)A(rs8192871)G(rs13251096)) had higher odds of high primary bile acids (OR = 2.34, 95% CI: 1.12-4.89) and CRA (OR = 1.89, 95% CI: 1.00-3.57) than those with the most common CTACAG haplotype. Furthermore, three SNPs (rs8192877, rs8192871, and rs13251096) each modified UDCA efficacy for CRA prevention, and CCGTAG-haplotype carriers experienced 71% lower odds of CRA recurrence with UDCA treatment, an effect not present for other haplotypes (test for UDCA-haplotype interaction, P = 0.020). Our findings support CYP7A1 polymorphisms as determinants of fecal bile acids and risk factors for CRA. Furthermore, UDCA efficacy for CRA prevention may be modified by genetic variation in CYP7A1, limiting treatment benefit to a subgroup of the population.

  9. The AGT Gene M235T Polymorphism and Response of Power-Related Variables to Aerobic Training

    Science.gov (United States)

    Aleksandra, Zarębska; Zbigniew, Jastrzębski; Waldemar, Moska; Agata, Leońska-Duniec; Mariusz, Kaczmarczyk; Marek, Sawczuk; Agnieszka, Maciejewska-Skrendo; Piotr, Żmijewski; Krzysztof, Ficek; Grzegorz, Trybek; Ewelina, Lulińska-Kuklik; Semenova, Ekaterina A.; Ahmetov, Ildus I.; Paweł, Cięszczyk

    2016-01-01

    The C allele of the M235T (rs699) polymorphism of the AGT gene correlates with higher levels of angiotensin II and has been associated with power and strength sport performance. The aim of the study was to investigate whether or not selected power-related variables and their response to a 12-week program of aerobic dance training are modulated by the AGT M235T genotype in healthy participants. Two hundred and one Polish Caucasian women aged 21 ± 1 years met the inclusion criteria and were included in the study. All women completed a 12-week program of low and high impact aerobics. Wingate peak power and total work capacity, 5 m, 10 m, and 30 m running times and jump height and jump power were determined before and after the training programme. All power-related variables improved significantly in response to aerobic dance training. We found a significant association between the M235T polymorphism and jump-based variables (squat jump (SJ) height, p = 0.005; SJ power, p = 0.015; countermovement jump height, p = 0.025; average of 10 countermovement jumps with arm swing (ACMJ) height, p = 0.001; ACMJ power, p = 0.035). Specifically, greater improvements were observed in the C allele carriers in comparison with TT homozygotes. In conclusion, aerobic dance, one of the most commonly practiced adult fitness activities in the world, provides sufficient training stimuli for augmenting the explosive strength necessary to increase vertical jump performance. The AGT gene M235T polymorphism seems to be not only a candidate gene variant for power/strength related phenotypes, but also a genetic marker for predicting response to training. Key points Aerobic dance provides sufficient training stimuli for the improvement of explosive power. The AGT gene M235T polymorphism is associated with individual variation in the change of power-related phenotypes in response to aerobic dance training. The C allele carriers of the AGT gene M235T polymorphism show greater improvements of jump

  10. Content Distribution for Telecom Carriers

    Directory of Open Access Journals (Sweden)

    Ben Falchuk

    2006-08-01

    Full Text Available Distribution of digital content is a key revenue opportunity for telecommunications carriers. As media content moves from analog and physical media-based distribution to digital on-line distribution, a great opportunity exists for carriers to claim their role in the media value chain and grow revenue by enhancing their broadband “all you can eat” high speed Internet access offer to incorporate delivery of a variety of paid content. By offering a distributed peer to peer content delivery capability with authentication, personalization and payment functions, carriers can gain a larger portion of the revenue paid for content both within and beyond their traditional service domains. This paper describes an approach to digital content distribution that leverages existing Intelligent Network infrastructure that many carriers already possess, as well as Web Services.

  11. Association of the CYBA gene C242T polymorphism with schizophrenia in Southern Chinese population%中国南方汉族人群CYBA基因C242T多态性与精神分裂症的关联

    Institute of Scientific and Technical Information of China (English)

    罗旭东; 林举达; 梁爱萍; 邹晓波; 陈武标

    2016-01-01

    Objective To investigate the potential association between the C242T polymorphism of CYBA gene and risk ,severity of schizophrenia.Methods Multiplex SNaPshot was used to determine the genotype and allele frequencies of CYBA gene C242T in 906 schizophrenic patients and 982 controls. Psychotic symptoms were evaluated in accordance with structured interview for the Positive and Negative Symptom Scale (PANSS).Results (1) There were no significant differences in genotype and allele fre-quencies for C242T polymorphism between the cases and controls (P > 0.05).(2)The C242T polymor-phism C/T and T/T carriers had higher negative symptom scores and total scores than C/C carriers (P 0.05);(2)C242T多态性位点CT+TT基因型患者PANSS量表的阴性量表分及总分高于CC基因型患者(P<0.05).结论 CYBA基因C242T多态性与中国南方汉族精神分裂症的易感性无明显关联,C242T多态性位点T突变可能会加重精神分裂症患者的阴性症状.

  12. Nonrandon X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency

    Energy Technology Data Exchange (ETDEWEB)

    Conley, M.E.; Lavoie, A.; Briggs, C.; Brown, P.; Guerra, C.; Puck, J.M.

    1988-05-01

    X chromosome-linked sever combined immunodeficiency (XSCID) is characterized by markedly reduced numbers of T cells, the absence of proliferative responses to mitogens, and hypogammaglobulinemia but normal or elevated number of B cells. To determine if the failure of the B cells to produce immunoglobulin might be due to expression of the XSCID gene defect in B-lineage cells as well as T cells, the authors analyzed patterns of X chromosome inactivation in B cells from nine obligate carriers of this disorder. A series of somatic cell hybrids that selectively retained the active X chromosome was produced from Epstein-Barr virus-stimulated B cells from each woman. To distinguish between the two X chromosome, the hybrids from each woman were analyzed using an X-linked restriction fragment length polymorphism for which the woman in question was heterozygous. In all obligate carriers of XSCID, the B-cell hybrids demonstrated preferential use of a single X chromosome, the nonmutant X, as the active X. To determine if the small number of B-cell hybrids that contained the mutant X were derived from an immature subset of B cells, lymphocytes from three carriers were separated into surface IgM positive and surface IgM negative B cells prior to exposure to Epstein-Barr virus and production of B-cell hybrids. The results demonstrated normal random X chromosome inactivation in B-cell hybrids derived from the less mature surface IgM positive B cells. These results suggest that the XSCID gene product has a direct effect on B cells as well as T cells and is required during B-cell maturation.

  13. Determination of the frequency of polymorphisms in genes related to the genome stability maintenance of the population residing at Monte Alegre, PA (Brazil) municipality; Determinacao da frequencia de polimorfismos em genes relacionados a manutencao da estabilidade do genoma na populacao residente no municipio de Monte Alegre, PA

    Energy Technology Data Exchange (ETDEWEB)

    Hozumi, Cristiny Gomes

    2010-07-01

    The human exposure to ionizing radiation coming from natural sources is an inherent feature of human life on earth, for man and all living things have always been exposed to these sources. Ionizing radiation is a known genotoxic agent which can affect the genomic stability and genes related to DNA repair may play a role when they have committed certain polymorphism. This study aimed to analyze the frequency of polymorphisms (SNPs) in genes of DNA repair and cell cycle control: hOGG1 (Ser326Cys), XRCC3 (Thr241 Met) and p53 (Arg72Pro) in saliva samples from a population located Monte Alegre, state of Para were collected in August 2008 and 40 samples of men and 46 samples of women, adding a total of 86 samples. By RFLP was determined the frequency of homozygous genotypes and / or heterozygous for polymorphic genes. The I)OGG1 gene was 5% of the allele 326Cys, XRCC3 gene found about 21 % of the allele 241 Met and p53 gene showed 40.8% of the 72Pro allele. And the genotype frequencies of individuals for the three genes were 91.04%, 88.06% and 59.7% for homozygous wild genotype, 5.97%, 11.94% and 22.39% for heterozygote genotype and 2,99%, zero and 17:91% for homozygous polymorphic hOGG1 genes respectively, XRCC3, p53. These values are similar to those found in previous studies. The influence of these polymorphisms, which are involved in DNA repair and consequent genotoxicity induced by radiation depends on dose and exposure factors such as smoking, which is statistically a factor in public health surveillance in the region. This study gathered information and molecular epidemiology in Monte Alegre, that help to characterization of local population. (author)

  14. MITOCHONDRIAL DNA POLYMORPHISM IN CONTROL REGION FROM CHINESE YUGU POPULATION

    Institute of Scientific and Technical Information of China (English)

    刘新社; 李生斌

    2004-01-01

    Objective To investigate the mitochondrial DNA sequence polymorphism sites in Chinese YUGU ethnic group and to provide basic data used in forensic purpose. Methods Genomic DNA was extracted from the hole blood of 100 unrelated individuals of Chinese YUGU ethnic group by standard chelex-100 method. The sequence polymorphism sites was determined by PCR amplification and direct sequencing. Results 54 polymorphic sites were noted in mtDNA np16091-16418 region, and 46 haplotypes were identified. The genetic diversity was calculated to be 0.9691, and the genetic identity was calculated to be 0.0406. Conclusion There are some particular polymorphism sites in Chinese YUGU ethnic group. The results suggest that sequence polymorphism from np16091-16418 in human mitochondrial DNA can be used as a biological marker for forensic identity.

  15. RANTES In1.1C allele polymorphisms in 13 Chinese ethnic populations

    Institute of Scientific and Technical Information of China (English)

    QIAN Yuan; SUN Hao; CHU Jia-you

    2009-01-01

    Background The In1.1C single nucleotide polymorphism (SNP) allele results in reduced RANTES transcription, which is associated with increased frequency of HIV-1 infection, and rapid progression to AIDS among HIV-1-infected individuals. This study aimed to study the mutant frequency and polymorphism of RANTES in Chinese populations.Methods The genotypes of RANTES In1.1C were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with the digestion of restriction endonuclease Mbo Ⅱ.Results Of the 617 individuals, 290 (47%) were carriers of the RANTES In1.1C allele, 52 of whom were homozygotes,whereas 238 were heterozygotes. The frequency of the RANTES In1.1C allele in those tested individuals was 0.2840.The frequencies of Inl.lC allele vaded from 0.07-0.27 in most of the populations in South-west China except for the two Lisu populations, while the frequencies of In1.1C spans from 0.35 to 0.45 in North-west China. The prevalence of the allele varied substantially between the South-west groups and North-west groups (X2=7.838, P=0.006).Conclusions The prevalence of the RANTES In1.1C allele varies substantially between the South-west groups and North-west groups. There is no significant difference between the groups with different languages, which suggests that language relationship is not consistent with the genetic relationship. These results have important implications for the design, assessment, and implementation of HIV-1 vaccines.

  16. Association of the DISC1 and NRG1 genetic polymorphisms with schizophrenia in a Chinese population.

    Science.gov (United States)

    He, Bang-Shun; Zhang, Ling-Yun; Pan, Yu-Qin; Lin, Kang; Zhang, Li-Li; Sun, Hui-Ling; Gao, Tian-Yi; Su, Tai-Qin; Wang, Shu-Kui; Zhu, Cheng-Bin

    2016-09-30

    Polymorphisms in Disrupted-in-Schizophrenia 1 (DISC1) and Neuregulin 1 (NRG1) might be associated with schizophrenia; however, the conclusions of relevant studies were inconsistent across different ethnic populations. This population-based case-control study was carried out to determine whether polymorphisms in these two genes could be associated with schizophrenia in the Chinese population. A case-control study of 248 schizophrenia patients and 236 controls was performed with the Sequenom MassARRAY platform. The results revealed that the DISC1 rs821616 heterozygous (AT vs. AA: adjusted OR, 1.98, 95%CI: 1.30-3.02) and co-dominant (AT/TT vs. AA: adjusted OR=1.94; 95%CI: 1.29-2.92) patterns were associated with increased risk for developing schizophrenia in all participants and subgroups (stratified by sex and age at onset), respectively. Moreover, in the male subgroup, the DISC1 rs821597 genotype GA or GA/AA exhibited increased risk of schizophrenia. For NRG1 polymorphisms, in the early onset subgroup (≤25years), the rs3924999 G/G genotype was susceptible to schizophrenia. The interaction of DISC1 rs821616 T allele with the NRG1 rs3924999 A allele or that of DISC1 rs821597 A allele with NRG1 rs3924999 A allele had synergic effects on the development of schizophrenia. This study concluded that carriers of the DISC1 rs821616 T allele have increased risk for developing schizophrenia, and that the DISC1 rs821597 A allele was susceptible to schizophrenia for the male, and that there are marked interactions between the DISC1 rs821616 T and/or rs821597 A alleles and the NRG1 rs3924999 A allele for the development of schizophrenia.

  17. IBD5 polymorphisms in inflammatory bowel disease: Association with response to infliximab

    Institute of Scientific and Technical Information of China (English)

    Elena Urcelay; Juan Luis Mendoza; Alfonso Martínez; Laura Fernández; Carlos Taxonera; Manuel Díaz-Rubio; Emilio G.de la Concha

    2005-01-01

    AIM: Inflammatory bowel diseases (IBD) are multifactorial pathologies of unknown etiology. One susceptibility locus,IBD5, has been mapped to chromosome 5q31. We analyzed our Spanish cohorts of Crohn's disease (CD)and ulcerative colitis (UC) patients to determine whether this locus is associated with IBD, and to ascertain the main clinical phenotype influenced by this risk factor. The kind of interaction, either genetic heterogeneity or epistasis, between this IBD5 susceptibility region and the NOD2/CARD15 gene mutations was studied as well.Finally, ve assessed whether this locus can predict response to infliximab therapy.METHODS: A case control study was performed with 274CD and 211 UC patients recruited from a single center and 511 healthy ethnically matched controls. Two polymorphisms were genotyped in the IBD5 locus and three in the CARD15/NOD2 gene.RESULTS: Our results evidence association only with CD especially with the fistulizing phenotype and in the absence of NOD2/CARD15 variants (mutant allele frequency in patients vscontrols: OR = 2.03, 95% CI = 1.35-3.06,P<0.01). The frequency of the IBD5 homozygous mutant genotype significantly increased in CD patients lacking response to infliximab (RR = 3.88, 95% CI = 1.18-12.0,P<0.05). UC patients overall do not show association with 5q31 polymorphisms, although a similar trend to the one observed in CD is found within the worse prognosis group.CONCLUSION: The IBD5 variants may enhance an individual carrier's risk for CD, mainly in the absence of the NOD2/CARD15 mutations and in fistulizing patients.The data presented suggest the potential role of the 5q31polymorphisms as markers of response to infiiximab.

  18. Q192R Paraoxonase (PON)1 Polymorphism, Insulin Sensitivity, and Endothelial Function in Essential Hypertensive Men

    Science.gov (United States)

    Dell’Omo, Giulia; Penno, Giuseppe; Pucci, Laura; Lucchesi, Daniela; Prato, Stefano Del; Pedrinelli, Roberto

    2014-01-01

    AIMS Essential hypertension is characterized by increased reactive oxygen species (ROS) generation harmful for insulin sensitivity and nitric oxide (NO)-mediated vasomotor function, a noxious effect that paraoxonase (PON)1, an antioxidant circulating high-density lipoprotein (HDL)-bound esterase, may counteract. The PON1 gene contains several polymorphisms including a glutamine (Q) to arginine (R) transition at position 192 encoding circulating allozymes with higher antioxidant activity that might influence both parameters. METHODS Q192R was determined by polymerase chain reaction in 72 never-treated, glucose-tolerant, uncomplicated essential hypertensive men. Insulin sensitivity was assessed by homeostasis model assessment (HOMA) and endothelial function by forearm vasodilation (strain-gage venous plethysmography) to intra-arterial acetylcholine (ACH) with sodium nitroprusside (NIP) as a NO-independent control. Additional evaluation variables included 24-hour blood pressure (BP), lipids, BMI, smoking status, and metabolic syndrome (MetS) by Adult Treatment Panel (ATP)-III criteria. R192 was considered as the rare allele, and its associations analyzed by dominant models (Q/Q vs. Q/R + R/R). RESULTS Genotype frequencies were consistent with the Hardy–Weinberg equilibrium. HOMA was lower and insulin resistance (the upper fourth of HOMA values distribution) less prevalent in Q/R + R/R carriers in whom ACH-mediated vasodilatation was greater and endothelial dysfunction (the bottom fourth of ACHAUC values distribution) less frequent than in Q/Q homozygotes. Q192R polymorphism and MetS were unrelated parameters despite their common association with insulin resistance. 24-hour BP, BMI, lipids, and smoking habits were homogeneously distributed across genotypes. CONCLUSIONS Q192R polymorphism associates differentially with insulin sensitivity and endothelial function in essential hypertensive men. PMID:25089090

  19. Association between polymorphisms in genes involved in lipid metabolism and immunological status in chronically HIV-infected patients.

    Science.gov (United States)

    Echeverria, Patricia; Guardiola, Montse; González, Marta; Vallvé, Joan Carles; Bonjoch, Anna; Puig, Jordi; Clotet, Bonaventura; Ribalta, Josep; Negredo, Eugènia

    2015-02-01

    Several studies have reported associations between lipid parameters and clinical progression of HIV infection. We performed a cross-sectional study including 468 antiretroviral-treated HIV-infected patients to investigate the impact of 13 polymorphisms of 9 genes affecting lipid metabolism and CD4 and CD8-T cell levels. Polymorphisms were identified in genes selected for their role in the development of atherogenic dyslipidemia, defined as triglycerides ⩾1.7mmol/L and high-density lipoprotein cholesterol (HDLc) <1.02 in women or 1.28mmol/L in men. Lipid and lipoprotein parameters were determined in all participants, as well as CD4 and CD8 T-cell counts. ANOVA was performed to compare the mean values of lipid and CD4 and CD8 T-cell count data. A Bonferroni correction for multiple comparisons was applied. 468 patients were included, 148 of them had a diagnosis of atherogenic dyslipidemia. The polymorphism rs3135506 in APOA5 was associated with a 9% increase in triglycerides (p=0.002), 10% and 21% decrease in HDLc (p=0.005), and CD4 T-cell count (p=0.024), respectively. APOA5 rs662799, was associated with a 19% increase in CD8 T-cell count (p=0.002). Carriers of LPL rs328 in the dyslipidemic group presented 11% higher levels of HDLc (p=0.015) and 14% higher levels of CD4 cells (p=0.038). In conclusion, polymorphisms in genes associated to the development of atherogenic dyslipidemia, especially variants in APOA5 gene (rs3135506 and rs662799), can influence the circulating CD4 T-cell levels in chronically HIV-infected patients. These data support previous reports on the effect of lipid metabolism on immunologic parameters in HIV+ individuals on antiretroviral therapy.

  20. Polymorphisms of angiotensin-converting enzyme 2 gene confer a risk to lone atrial fibrillation in Chinese male patients

    Institute of Scientific and Technical Information of China (English)

    WANG Shu-xia; TAO Tao; FU Zhi-qing; XIE Xiang-zhu; WANG Hao; WANG Yu-tang

    2013-01-01

    Background Growing epidemiologic evidence has indicated that genetics can predispose individuals to the occurrence of lone atrial fibrillation (AF).The angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with hypertension and left ventricular hypertrophy.The objective of our study was to investigate the association of ACE2 gene polymorphisms with lone AF.Methods A total of 265 consecutive lone AF patients and 289 healthy controls were successfully investigated.The polymorphisms rs2106809 and rs2285666 were genotyped by polymerase chain reaction (PCR) and direct sequencing.A Logistic regression model was used to determine the odds ratio (OR) and 95% confidence intervals (CI) of variations of ACE2 for lone AF.Results The T allele of rs2106809 conferred an increased risk for lone AF (OR 1.24,95% CI 1.01-1.52,P=0.03) in males after adjustment for conventional risk factors.SNP at rs2285666 in males was not significantly different between AF patients and controls.No association was found between the two polymorphisms in the female population with lone AF.After (36.3±4.5) months of follow-up,the end point data were obtained:death (cardiac and noncardiac),ischemic stroke,and heart failure.In the male subgroup,the associations between rs2106809 T male carriers and combined end points including ischemic stroke,heart failure,and death in our study were of significance (OR 3.6,95% CI 1.0-13.1,P=0.04).Conclusions The results indicate that polymorphism at ACE2 gene is associated with male lone AF in a Chinese Han population.Lone AF males who carry the rs2106809 T allele are associated with adverse cardiac events.

  1. Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications.

    Science.gov (United States)

    Guo, K M; Wu, B; Wang, H B; Tian, R H

    2016-12-02

    Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy counseled males, with polymorphisms being most common, followed by 47,XXY and balanced translocation. Follow-up of 170 carriers with normozoospermia, after 3 years, showed that 94.7% of the cases resulted in live births. In the carriers of polymorphisms, balanced translocation, inv(9), Robertsonian translocation, inversion, and 47,XYY, live birth rates were 96.8, 85.7, 100, 83.3, 75, and 100%, respectively. Follow-up of 54 carriers with oligozoospermia or azoospermia, after 3 years, showed that 14.8% of the cases resulted in live births. In the carriers of 47,XXY with severe oligozoospermia or azoospermia, 80 or 5.9% of the cases resulted in live births, respectively. Therefore, timely psychological support would be beneficial and multidisciplinary approach should be preferentially considered for the management of individuals with chromosomal abnormalities.

  2. Polymorphisms of the OXTR gene explain why sales professionals love to help customers

    NARCIS (Netherlands)

    W.J.M.I. Verbeke (Willem); R.P. Bagozzi (Richard); W.E. van den Berg (Wouter); A. Lemmens (Aurélie)

    2013-01-01

    textabstractPolymorphisms of the OXTR gene affect people's social interaction styles in various social encounters: carriers of the OXTR GG, compared to the OXTR AA/AG in general, are more motivated to interact socially and detect social salience. We focus on sales professionals operating in knowledg

  3. Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

    DEFF Research Database (Denmark)

    Vinther-Jensen, T; Nielsen, T T; Budtz-Jørgensen, E;

    2016-01-01

    -described cohort of Danish HD gene-expansion carriers. We show that cognitive impairment and psychiatric symptoms in HD are modified by polymorphisms in the monoamine oxidase A (MAOA) and catechol-O-methyltransferase (COMT) genes and by the 4p16.3 B haplotype. These results support the theory of dopamine imbalance...

  4. Influence of paraoxonase-1 Q192R and cytochrome P450 2C19 polymorphisms on clopidogrel response

    Directory of Open Access Journals (Sweden)

    Li L

    2012-02-01

    Full Text Available Rolf P Kreutz1,2, Perry Nystrom2, Yvonne Kreutz2, Jia Miao2, Zeruesenay Desta2, Jeffrey A Breall1, Lang Li2, ChienWei Chiang2, Richard Kovacs1, David A Flockhart2, Yan Jin21Krannert Institute of Cardiology, 2Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN, USABackground: The metabolic activation of clopidogrel is a two-step process. It has been suggested that paraoxonase-1 (PON1 is a rate-limiting enzyme in the conversion of 2-oxo-clopidogrel to an active thiol metabolite. Conflicting results have been reported in regard to (1 the association of a common polymorphism of PON1 (Q192R with reduced rates of coronary stent thrombosis in patients taking clopidogrel and (2 its effects on platelet inhibition in patient populations of European descent. Methods: Blood samples from 151 subjects of mixed racial background with established coronary artery disease and who received clopidogrel were analyzed. Platelet aggregation was determined with light transmittance aggregometry and VerifyNow® P2Y12 assay. Genotyping for cytochrome P450 2C19 (CYP2C19*2 and *3 and PON1 (Q192R polymorphisms was performed.Results: Carriers of CYP2C19*2 alleles exhibited lower levels of platelet inhibition and higher on-treatment platelet aggregation than noncarriers. There was no significant difference in platelet aggregation among PON1 Q192R genotypes. Homozygous carriers of the wild-type variant of PON1 (QQ192 had similar on-treatment platelet reactivity to carriers of increased-function variant alleles during maintenance clopidogrel dosing, as well as after administration of a clopidogrel 600 mg loading dose.Conclusion: CYP2C19*2 allele is associated with impaired platelet inhibition by clopidogrel and high on-treatment platelet aggregation. PON1 (Q192R polymorphism does not appear to be a significant determinant of clopidogrel response.Keywords: PON1, platelet, aggregation, cytochrome P450 enzymes

  5. Polymorphism in Energetic Materials

    Science.gov (United States)

    2008-01-01

    salicylic acid ) was first prepared by Charles Frederic Gerhardt in 1853, a second polymorph of this drug was not discovered until 2005. Studies have...the crystallization conditions post- synthesis were not recorded, reproducing the condi- tions resulting in the analyzed sample was not possible. All

  6. Single Nucleotide Polymorphism

    DEFF Research Database (Denmark)

    Børsting, Claus; Pereira, Vania; Andersen, Jeppe Dyrberg;

    2014-01-01

    Single nucleotide polymorphisms (SNPs) are the most frequent DNA sequence variations in the genome. They have been studied extensively in the last decade with various purposes in mind. In this chapter, we will discuss the advantages and disadvantages of using SNPs for human identification and bri...

  7. Teaching polymorphism early

    DEFF Research Database (Denmark)

    2005-01-01

    Is it possible to teach dynamic polymorphism early? What techniques could facilitate teaching it in Java. This panel will bring together people who have considered this question and attempted to implement it in various ways, some more completely than others. It will also give participants an oppo...

  8. Polymorphous Perversity in Texts

    Science.gov (United States)

    Johnson-Eilola, Johndan

    2012-01-01

    Here's the tricky part: If we teach ourselves and our students that texts are made to be broken apart, remixed, remade, do we lose the polymorphous perversity that brought us pleasure in the first place? Does the pleasure of transgression evaporate when the borders are opened?

  9. Polymorphism of sorbitol

    Science.gov (United States)

    Nezzal, Amale; Aerts, Luc; Verspaille, Marleen; Henderickx, Geert; Redl, Andreas

    2009-07-01

    The polymorphism of sorbitol was investigated, confirming the existence of four anhydrous crystalline phases plus the hydrate. The crystallised melt (CM), the alpha form, and the gamma form were obtained via a dry route. The CM was confirmed to be a crystalline state with a spherulite morphology. The alpha form was obtained via direct conversion from the CM, in contrast to more complicated routes previously reported, and was found to have a very high crystallinity. Gamma crystals were obtained by seeding the melt at high temperature; however, crystallinity was clearly less than for alpha crystals. Despite its lower crystallinity, the gamma polymorph was found to be the most stable of the anhydrous crystalline forms; this was confirmed by its high melting point and low hygroscopicity. In contrast, the alpha polymorph has a relatively high melting point but lacks moisture stability at high relative humidity. The hydrate form has the same resistance to moisture as the gamma form, but melts at a lower temperature. The combination of both a high melting point and high stability in the presence of water makes the gamma polymorph best suited for confectionary applications.

  10. Low temperature carrier transport properties in isotopically controlled germanium

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, K.

    1994-12-01

    Investigations of electronic and optical properties of semiconductors often require specimens with extremely homogeneous dopant distributions and precisely controlled net-carrier concentrations and compensation ratios. The previous difficulties in fabricating such samples are overcome as reported in this thesis by growing high-purity Ge single crystals of controlled {sup 75}Ge and {sup 70}Ge isotopic compositions, and doping these crystals by the neutron transmutation doping (NTD) technique. The resulting net-impurity concentrations and the compensation ratios are precisely determined by the thermal neutron fluence and the [{sup 74}Ge]/[{sup 70}Ge] ratios of the starting Ge materials, respectively. This method also guarantees unprecedented doping uniformity. Using such samples the authors have conducted four types of electron (hole) transport studies probing the nature of (1) free carrier scattering by neutral impurities, (2) free carrier scattering by ionized impurities, (3) low temperature hopping conduction, and (4) free carrier transport in samples close to the metal-insulator transition.

  11. Study of Charge Carrier Transport in GaN Sensors

    Directory of Open Access Journals (Sweden)

    Eugenijus Gaubas

    2016-04-01

    Full Text Available Capacitor and Schottky diode sensors were fabricated on GaN material grown by hydride vapor phase epitaxy and metal-organic chemical vapor deposition techniques using plasma etching and metal deposition. The operational characteristics of these devices have been investigated by profiling current transients and by comparing the experimental regimes of the perpendicular and parallel injection of excess carrier domains. Profiling of the carrier injection location allows for the separation of the bipolar and the monopolar charge drift components. Carrier mobility values attributed to the hydride vapor phase epitaxy (HVPE GaN material have been estimated as μe = 1000 ± 200 cm2/Vs for electrons, and μh = 400 ± 80 cm2/Vs for holes, respectively. Current transients under injection of the localized and bulk packets of excess carriers have been examined in order to determine the surface charge formation and polarization effects.

  12. Polymorphisms in autophagy genes and susceptibility to tuberculosis.

    Directory of Open Access Journals (Sweden)

    Mario Songane

    Full Text Available Recent data suggest that autophagy is important for intracellular killing of Mycobacterium tuberculosis, and polymorphisms in the autophagy gene IRGM have been linked with susceptibility to tuberculosis (TB among African-Americans, and with TB caused by particular M. tuberculosis genotypes in Ghana. We compared 22 polymorphisms of 14 autophagy genes between 1022 Indonesian TB patients and 952 matched controls, and between patients infected with different M. tuberculosis genotypes, as determined by spoligotyping. The same autophagy polymorphisms were studied in correlation with ex-vivo production of TNF, IL-1β, IL-6, IL-8, IFN-γ and IL-17 in healthy volunteers. No association was found between TB and polymorphisms in the genes ATG10, ATG16L2, ATG2B, ATG5, ATG9B, IRGM, LAMP1, LAMP3, P2RX7, WIPI1, MTOR and ATG4C. Associations were found between polymorphisms in LAMP1 (p = 0.02 and MTOR (p = 0.02 and infection with the successful M. tuberculosis Beijing genotype. The polymorphisms examined were not associated with M. tuberculosis induced cytokines, except for a polymorphism in ATG10, which was linked with IL-8 production (p = 0.04. All associations found lost statistical significance after correction for multiple testing. This first examination of a broad set of polymorphisms in autophagy genes fails to show a clear association with TB, with M. tuberculosis Beijing genotype infection or with ex-vivo pro-inflammatory cytokine production.

  13. Interaction Effect between Handedness and CNTNAP2 Polymorphism (rs7794745 genotype on Voice-specific Frontotemporal Activity in Healthy Individuals: An fMRI Study

    Directory of Open Access Journals (Sweden)

    Michihiko eKoeda

    2015-04-01

    Full Text Available Recent neuroimaging studies have demonstrated that Contactin-associated protein-like2 (CNTNAP2 polymorphisms affect left-hemispheric function of language processing in healthy individuals, but no study has investigated the influence of these polymorphisms on right-hemispheric function involved in human voice perception. Further, although recent reports suggest that determination of handedness is influenced by genetic effect, the interaction effect between handedness and CNTNAP2 polymorphisms for brain activity in human voice perception and language processing has not been revealed. We aimed to investigate the interaction effect of handedness and CNTNAP2 polymorphisms in respect to brain function for human voice perception and language processing in healthy individuals. Brain function of 108 healthy volunteers (74 right-handed and 34 non-right-handed was examined while they were passively listening to reverse sentences (rSEN, identifiable non-vocal sounds (SND, and sentences (SEN. Full factorial design analysis was calculated by using three factors: 1 rs7794745 (A/A or A/T, 2 rs2710102 (G/G or A carrier (A/G and A/A, and 3 voice-specific response (rSEN or SND. The main effect of rs7794745 (A/A or A/T was significantly revealed at the right middle frontal gyrus (MFG and bilateral superior temporal gyrus (STG. This result suggests that rs7794745 genotype affects voice-specific brain function. Furthermore, interaction effect was significantly observed among MFG-STG activations by human voice perception, rs7794745 (A/A or A/T, and handedness. These results suggest that CNTNAP2 polymorphisms could be one of the important factors in the neural development related to vocal communication and language processing in both right-handed and non-right-handed healthy individuals.

  14. Association of CD28 IVS3 +17T/C Polymorphism with Soluble CD28 in Rheumatoid Arthritis

    Science.gov (United States)

    Ledezma-Lozano, I. Y.; Padilla-Martínez, J. J.; Leyva-Torres, S. D.; Parra-Rojas, I.; Ramírez-Dueñas, M. G.; Pereira-Suárez, Ana Laura; Rangel-Villalobos, H.; Ruiz-Quezada, S. L.; Sánchez-Hernández, P. E.; Muñoz-Valle, J. F.

    2011-01-01

    Objective: Rheumatoid arthritis (RA) is an autoimmune disease of unknown etiology in which inflammatory pathology involves T cell activation and the CD28 costimulatory molecule involved in T cell presentation. The gene includes the CD28 IVS3 +17T/C polymorphism that could be associated with susceptibility to RA whereas the soluble concentrations of CD28 (sCD28) could be related to clinical activity. Methods: We investigated the CD28 IVS3 +17T/C polymorphism in 200 RA patients and 200 healthy subjects (HS). Furthermore, we quantified the sCD28 concentrations in 77 samples of each group. We applied indexes focused to determine the activity and disability (DAS28 and Spanish HAQ-DI, respectively) in RA patients. Methods: We investigated the CD28 IVS3 +17T/C polymorphism in 200 RA patients and 200 healthy subjects (HS). Furthermore, we quantified the sCD28 concentrations in 77 samples of each group. We applied indexes focused to determine the activity and disability (DAS28 and Spanish HAQ-DI, respectively) in RA patients. Results: RA patients had significantly higher frequencies of the CD28 T allele compared to HS (p = 0.032 OR = 1.59, C.I. 1.02–2.49). In addition, the IVS3 +17 T/T genotype frequency was also increased in RA vs. HS (p = 0.026). The RA patients showed higher sCD28 serum levels than HS (p = 0.001). Carriers of the T/T genotype in RA patients showed higher sCD28 levels than C/C carriers (p = 0.047). In addition, a correlation between sCD28 and Spanish HAQ-DI (correlation, 0.272; p = 0.016), was found. Conclusion: The T allele in CD28 IVS3 +17T/C polymorphism is associated with a susceptibility to RA in Western Mexico. In addition, increased sCD28 levels are related to T/T genotype in RA patients. PMID:21508506

  15. Matrix Metalloproteinases 2 and 3 Gene Polymorphisms and the Risk of Target Vessel Revascularization after Percutaneous Coronary Intervention: Is There Still Room for Determining Genetic Variation of MMPs for Assessment of an Increased Risk of Restenosis?

    Directory of Open Access Journals (Sweden)

    J.J.W. Verschuren

    2010-01-01

    Full Text Available Objective: Mixed results have been reported of matrix metalloproteinases (MMP and their association with restenosis after percutaneous coronary intervention (PCI. The current study examines whether multiple single nucleotide polymorphisms (SNPs, covering the full genomic region of MMP2 and MMP3, were associated with restenosis in the GENDER study population.

  16. Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

    DEFF Research Database (Denmark)

    Phillips, Kelly-Anne; Milne, Roger L; Rookus, Matti A;

    2013-01-01

    To determine whether adjuvant tamoxifen treatment for breast cancer (BC) is associated with reduced contralateral breast cancer (CBC) risk for BRCA1 and/or BRCA2 mutation carriers.......To determine whether adjuvant tamoxifen treatment for breast cancer (BC) is associated with reduced contralateral breast cancer (CBC) risk for BRCA1 and/or BRCA2 mutation carriers....

  17. 4G/5G polymorphism and haplotypes of SERPINE1 in atherosclerotic diseases of coronary arteries.

    Science.gov (United States)

    Koch, Werner; Schrempf, Matthias; Erl, Anna; Mueller, Jakob C; Hoppmann, Petra; Schömig, Albert; Kastrati, Adnan

    2010-06-01

    We assessed the association between common variation at the SERPINE1 (PAI1) locus and myocardial infarction (MI). Haplotype-tagging polymorphisms, including the 4G/5G deletion/insertion polymorphism and seven single nucleotide polymorphisms, were analysed in a German sample containing 3,657 cases with MI and 1,211 controls. The association between the 4G/5G polymorphism and MI was examined in a meta-analysis of data extracted from 32 studies (13,267 cases/14,716 controls). In addition, the relation between the 4G/5G polymorphism and coronary diseases, comprising MI, coronary artery disease, coronary heart disease, or the acute coronary syndrome, was assessed in a combined analysis enclosing 43 studies (17,278 cases/18,039 controls). None of the tagging polymorphisms was associated with MI in the present sample (p 5G5G genotype. None of 13 common (frequency >1.0%) 8-marker haplotypes was related to the risk of MI. In a meta-analysis specifically addressing the association with MI, no elevated risk was found in the carriers of the 4G allele (OR 1.07, 95% CI 0.99-1.16; p = 0.11). A more general combined analysis of coronary diseases showed a marginally increased risk in 4G allele carriers (OR 1.08, 95% CI 1.00-1.16; p = 0.044). In essence, tagging polymorphisms, including the 4G/5G polymorphism, and common haplotypes of the SERPINE1 gene region were not associated with MI in a German sample, and no compelling evidence was obtained for a relationship of the 4G/5G polymorphism to MI and coronary atherosclerosis in a meta-analysis.

  18. 75 FR 2923 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-01-19

    ... Federal Motor Carrier Safety Administration Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee Meeting. SUMMARY: FMCSA announces that its Motor Carrier Safety Advisory Committee (MCSAC)...

  19. 75 FR 72863 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-11-26

    ... Federal Motor Carrier Safety Administration Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration, DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee Meeting. SUMMARY: FMCSA announces that the Agency's Motor Carrier Safety Advisory Committee...

  20. 75 FR 50797 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-08-17

    ... Federal Motor Carrier Safety Administration Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee Meeting. SUMMARY: FMCSA announces that its Motor Carrier Safety Advisory Committee (MCSAC)...

  1. 76 FR 12214 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2011-03-04

    ... Federal Motor Carrier Safety Administration Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration, DOT. ACTION: Notice: Announcement of Motor Carrier Safety Advisory Committee meeting; request for comment. SUMMARY: The Federal Motor Carrier Safety...

  2. 75 FR 29384 - Motor Carrier Safety Advisory Committee Public Meeting

    Science.gov (United States)

    2010-05-25

    ... Federal Motor Carrier Safety Administration Motor Carrier Safety Advisory Committee Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of Motor Carrier Safety Advisory Committee meeting. SUMMARY: FMCSA announces that its Motor Carrier Safety Advisory Committee (MCSAC)...

  3. Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R in cancer cachexia

    Directory of Open Access Journals (Sweden)

    Scherag André

    2008-03-01

    Full Text Available Abstract Background At present pathogenic mechanisms of cancer cachexia are poorly understood. Previous evidence in animal models implicates the melanocortin-4 receptor gene (MC4R in the development of cancer cachexia. In humans, MC4R mutations that lead to an impaired receptor function are associated with obesity; in contrast, the most frequent polymorphism (Val103Ile, rs2229616; heterozygote frequency approximately 2% was shown to be negatively associated with obesity. We tested if cancer patients that are homo-/heterozygous for the Val103Ile polymorphism are more likely to develop cachexia and/or a loss of appetite than non-carriers of the 103Ile-allele. Methods BMI (body mass index in kg/m2 of 509 patients (295 males with malignant neoplasms was determined; additionally patients were asked about premorbid/pretherapeutical changes of appetite and weight loss. Cachexia was defined as a weight loss of at least 5% prior to initiation of therapy; to fulfil this criterion this weight loss had to occur independently of other plausible reasons; in single cases weight loss was the initial reason for seeing a physician. The average age in years (± SD was 59.0 ± 14.5 (males: 58.8 ± 14.0, females 59.2 ± 14.0. Blood samples were taken for genotyping of the Val103Ile by PCR- RFLP. Results Most of the patients suffered from lymphoma, leukaemia and gastrointestinal tumours. 107 of the patients (21% fulfilled our criteria for cancer cachexia. We did not detect association between the Val103Ile polymorphism and cancer cachexia. However, if we exploratively excluded the patients with early leucaemic stages, we detected a trend towards the opposite effect (p 0.39. Conclusion Heterozygotes for the 103Ile-allele are not more prone to develop cancer cachexia than patients without this allele; possibly, Ile103 carriers might be more resistant to cancer cachexia in patients with solid tumors. Further studies of the melanocortinergic system in cachexia of

  4. ISS qualified thermal carrier equipment

    Science.gov (United States)

    Deuser, Mark S.; Vellinger, John C.; Jennings, Wm. M.

    2000-01-01

    Biotechnology is undergoing a period of rapid and sustained growth, a trend which is expected to continue as the general population ages and as new medical treatments and products are conceived. As pharmaceutical and biomedical companies continue to search for improved methods of production and, for answers to basic research questions, they will seek out new avenues of research. Space processing on the International Space Station (ISS) offers such an opportunity! Space is rapidly becoming an industrial laboratory for biotechnology research and processing. Space bioprocessing offers exciting possibilities for developing new pharmaceuticals and medical treatments, which can be used to benefit mankind on Earth. It also represents a new economic frontier for the private sector. For over eight years, the thermal carrier development team at SHOT has been working with government and commercial sector scientists who are conducting microgravity experiments that require thermal control. SHOT realized several years ago that the hardware currently being used for microgravity thermal control was becoming obsolete. It is likely that the government, academic, and industrial bioscience community members could utilize SHOT's hardware as a replacement to their current microgravity thermal carrier equipment. Moreover, SHOT is aware of several international scientists interested in utilizing our space qualified thermal carrier. SHOT's economic financing concept could be extremely beneficial to the international participant, while providing a source of geographic return for their particular region. Beginning in 2000, flight qualified thermal carriers are expected to be available to both the private and government sectors. .

  5. Hot carrier degradation in semiconductor devices

    CERN Document Server

    2015-01-01

    This book provides readers with a variety of tools to address the challenges posed by hot carrier degradation, one of today’s most complicated reliability issues in semiconductor devices.  Coverage includes an explanation of carrier transport within devices and book-keeping of how they acquire energy (“become hot”), interaction of an ensemble of colder and hotter carriers with defect precursors, which eventually leads to the creation of a defect, and a description of how these defects interact with the device, degrading its performance. • Describes the intricacies of hot carrier degradation in modern semiconductor technologies; • Covers the entire hot carrier degradation phenomenon, including topics such as characterization, carrier transport, carrier-defect interaction, technological impact, circuit impact, etc.; • Enables detailed understanding of carrier transport, interaction of the carrier ensemble with the defect precursors, and an accurate assessment of how the newly created defects imp...

  6. Facts and fictions about polymorphism.

    Science.gov (United States)

    Cruz-Cabeza, Aurora J; Reutzel-Edens, Susan M; Bernstein, Joel

    2015-12-01

    We present new facts about polymorphism based on (i) crystallographic data from the Cambridge Structural Database (CSD, a database built over 50 years of community effort), (ii) 229 solid form screens conducted at Hoffmann-La Roche and Eli Lilly and Company over the course of 8+ and 15+ years respectively and (iii) a dataset of 446 polymorphic crystals with energies and properties computed with modern DFT-d methods. We found that molecular flexibility or size has no correlation with the ability of a compound to be polymorphic. Chiral molecules, however, were found to be less prone to polymorphism than their achiral counterparts and compounds able to hydrogen bond exhibit only a slightly higher propensity to polymorphism than those which do not. Whilst the energy difference between polymorphs is usually less than 1 kcal mol(-1), conformational polymorphs are capable of differing by larger values (up to 2.5 kcal mol(-1) in our dataset). As overall statistics, we found that one in three compounds in the CSD are polymorphic whilst at least one in two compounds from the Roche and Lilly set display polymorphism with a higher estimate of up to three in four when compounds are screened intensively. Whilst the statistics provide some guidance of expectations, each compound constitutes a new challenge and prediction and realization of targeted polymorphism still remains a holy grail of materials sciences.

  7. A novel approach for rapid screening of mitochondrial D310 polymorphism

    Directory of Open Access Journals (Sweden)

    Güllüoğlu Bahadır M

    2006-01-01

    Full Text Available Abstract Background Mutations in the mitochondrial DNA (mtDNA have been reported in a wide variety of human neoplasms. A polynucleotide tract extending from 303 to 315 nucleotide positions (D310 within the non-coding region of mtDNA has been identified as a mutational hotspot of primary tumors. This region consists of two polycytosine stretches interrupted by a thymidine nucleotide. The number of cytosines at the first and second stretches are 7 and 5 respectively, according to the GeneBank sequence. The first stretch exhibits a polymorphic length variation (6-C to 9-C among individuals and has been investigated in many cancer types. Large-scale studies are needed to clarify the relationship between cytosine number and cancer development/progression. However, time and money consuming methods such as radioactivity-based gel electrophoresis and sequencing, are not appropriate for the determination of this polymorphism for large case-control studies. In this study, we conducted a rapid RFLP analysis using a restriction enzyme, BsaXI, for the single step simple determination of 7-C carriers at the first stretch in D310 region. Methods 25 colorectal cancer patients, 25 breast cancer patients and 41 healthy individuals were enrolled into the study. PCR amplification followed by restriction enzyme digestion of D310 region was performed for RFLP analysis. Digestion products were analysed by agarose gel electrophoresis. Sequencing was also applied to samples in order to confirm the RFLP data. Results Samples containing 7-C at first stretch of D310 region were successfully determined by the BsaXI RFLP method. Heteroplasmy and homoplasmy for 7-C content was also determined as evidenced by direct sequencing. Forty-one percent of the studied samples were found to be BsaXI positive. Furthermore, BsaXI status of colorectal cancer samples were significantly different from that of healthy individuals. Conclusion In conclusion, BsaXI RFLP analysis is a simple and

  8. Theory of Carrier Phase Ambiguity Resolution

    Institute of Scientific and Technical Information of China (English)

    P. J. G. Teunissen

    2003-01-01

    Carrier phase ambiguity resolution is the key to high precision Global Navigation Satellite System(GNSS) positioning and navigation. It applies to a great variety of current and future models of GPS, modernized GPS and Galileo. A proper handling of carrier phase ambiguity resolution requires a proper understanding of the underlying theory of integer inference. In this contribution a brief review is given of the probabilistic theory of integer ambiguity estimation. We describe the concept of ambiguity pull-in regions, introduce the class of admissible integer estimators, determine their probability mass functions and show how their variability solution. The theory is worked out in more detail for integer least-squares and integer bootstrapping. It is shown that the integer least-squares principle maximizes the probability of correct integer estimation. Sharp and easy-to-compute bounds are given for both the ambiguity success rate and the baseline's probability of concentration. Finally the probability density function of the ambiguity residuals is determined. This allows one for the first time to formulate rigorous tests for the integerness of the parameters.

  9. Genetic polymorphisms of miR-146a and miR-27a, H. pylori infection, and risk of gastric lesions in a Chinese population.

    Directory of Open Access Journals (Sweden)

    Ming-yang Song

    Full Text Available BACKGROUND: MicroRNAs (miRNAs have been implicated in various human diseases. Single nucleotide polymorphisms (SNPs in inflammation-related miRNA may play an important role in Helicobacter pylori (H. pylori-induced gastric lesions. To evaluate the associations between miRNA SNPs, H. pylori and gastric lesions, a population-based study was conducted in Linqu County, China. METHODOLOGY/PRINCIPAL FINDINGS: Based on serum miRNA array conducted in this population, two SNP loci (miR-146a rs2910164: G>C and miR-27a rs895819: T>C were determined by polymerase chain reaction-restriction fragment length polymorphism in 2,380 participants with diverse gastric lesions. Using participants with superficial gastritis and mild chronic atrophic gastritis as the reference group, we found that rs2910164 CC carriers had a significantly increased risk of intestinal metaplasia [adjusted odds ratio (OR, 1.42; 95% confidence interval (CI, 1.03-1.97] and dysplasia (OR, 1.54; 95% CI, 1.05-2.25 compared to GG carriers, whereas no significant association was observed for rs895819. Stratified analysis by H. pylori infection indicated that rs2910164 C allele was associated with an increased risk of intestinal metaplasia and dysplasia only among individuals infected with H. pylori (CC vs. GG: OR, 1.53; 95% CI, 1.12-2.08, P for trend = 0.004. Participants who simultaneously carried variant alleles and H. pylori infection were more likely to develop intestinal metaplasia and dysplasia, although the interaction between genetic variants and H. pylori infection was not significant (P for interaction = 0.35 for rs2910164 and 0.92 for rs895819. CONCLUSIONS/SIGNIFICANCE: These findings suggest that miR-146a rs2910164 polymorphism may contribute to the evolution of H. pylori-associated gastric lesions in this high-risk population.

  10. CYP2E1 Pst Ⅰ/Rsa Ⅰ polymorphism and colorectal cancer risk:A meta-analysis

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    AIM:To clarify the association between CYP2E1 PstⅠ/RsaⅠ polymorphism and susceptibility to colorectal cancer.METHODS:A meta-analysis based on 10 eligible casecontrol studies involving 4979 cases and 6012 controls was carried out to summarize the data on the association between CYP2E1 RsaⅠ/PstⅠ polymorphism and colorectal cancer risk.RESULTS:In comparison of the homozygote c2c2 and c2 carriers(c1c2 + c2c2) and the homozygous wild-type genotype(c1c1),no association was found between CYP2E1 RsaⅠ/PstⅠ polymorph...

  11. High-performance single crystal organic field-effect transistors based on two dithiophene-tetrathiafulvalene (DT-TTF) polymorphs.

    Science.gov (United States)

    Pfattner, Raphael; Mas-Torrent, Marta; Bilotti, Ivano; Brillante, Aldo; Milita, Silvia; Liscio, Fabiola; Biscarini, Fabio; Marszalek, Tomasz; Ulanski, Jacek; Nosal, Andrzej; Gazicki-Lipman, Maciej; Leufgen, Michael; Schmidt, Georg; Molenkamp, Laurens W; Laukhin, Vladimir; Veciana, Jaume; Rovira, Concepció

    2010-10-01

    Solution prepared single crystal organic field-effect transistors (OFETs) combine low-cost with high performance due to structural ordering of molecules. However, in organic crystals polymorphism is a known phenomenon, which can have a crucial influence on charge transport. Here, the performance of solution-prepared single crystal OFETs based on two different polymorphs of dithiophene-tetrathiafulvalene, which were investigated by confocal Raman spectroscopy and X-ray diffraction, are reported. OFET devices prepared using different configurations show that both polymorphs exhibited excellent device performance, although the -phase revealed charge carrier mobility between two and ten times higher in accordance to the closer stacking of the molecules.

  12. The c.-1639g>A polymorphism of the VKORC1 gene and his influence on the therapeutic response during oral anticoagulants use

    Directory of Open Access Journals (Sweden)

    Kovač Mirjana

    2009-01-01

    Full Text Available Background/Aim. A single nucleotide polymorphism c.- 1639G>A in the promoter region of vitamin K-epoxide reductase (VKORC1 gene has been found to account for most of the variability in response to oral anticoagulants (OA. The aim of the study was to determine the incidence and the effect of c.-1639G>A polymorphism on the acenocoumarol dosage requirements in the group of patients under stable anticoagulation, and to estimate the variability in response to OA. Methods. Our study included 200 consecutive patients requiring low (n = 43, medium (n = 127 and high (n = 30 acenocoumarol dose. Results. Out of 43 low dose patients, 40 (93 % carried the A allele. The A allele was less frequent in the group of 30 patients requiring high dose: among these patients 13 (43.3% carried the A allele in the heterozygous form and none of them carried AA genotype. The patients with GG genotype required 2.6 times higher dose than the patients carriers of AA genotype (p < 0.0001. In 33 patients (16.5% the overdose occurred during the initiation of anticoagulant therapy and in 11 patients (5.5% it was associated with bleeding. Out of the group of 33 overdosed patients, 27 and 6 patients carried AA and GA genotype, respectively (p < 0.000001. Conclusion. VKORC1 significantly influenced OA dose and predicted individuals predisposed to unstable anticoagulation. The carriers of AA genotype required 2.6 time lower doses of OA than the carriares of GG genotype. Pharmacogenetic testing could predict a high risk of overdose among 28.5 % of our patients - carriers of AA genotype, before anticoagulation therapy initiation.

  13. Serotonin Transporter Gene Polymorphism Modulates Activity and Connectivity within an Emotional Arousal Network of Healthy Men during an Aversive Visceral Stimulus.

    Directory of Open Access Journals (Sweden)

    Lisa A Kilpatrick

    Full Text Available The 5-hydroxytryptamine transporter gene-linked polymorphic region (5-HTTLPR has been linked to increased stress responsiveness and negative emotional states. During fearful face recognition individuals with the s allele of 5-HTTLPR show greater amygdala activation. We aimed to test the hypothesis that the 5-HTTLPR polymorphism differentially affects connectivity within brain networks during an aversive visceral stimulus.Twenty-three healthy male subjects were enrolled. DNA was extracted from the peripheral blood. The genotype of 5-HTTLPR was determined using polymerase chain reaction. Subjects with the s/s genotype (n = 13 were compared to those with the l allele (genotypes l/s, l/l, n = 10. Controlled rectal distension from 0 to 40 mmHg was delivered in random order using a barostat. Radioactive H2[15-O] saline was injected at time of distension followed by positron emission tomography (PET. Changes in regional cerebral blood flow (rCBF were analyzed using partial least squares (PLS and structural equation modeling (SEM.During baseline, subjects with s/s genotype demonstrated a significantly increased negative influence of pregenual ACC (pACC on amygdala activity compared to l-carriers. During inflation, subjects with s/s genotype demonstrated a significantly greater positive influence of hippocampus on amygdala activity compared to l-carriers.In male Japanese subjects, individuals with s/s genotype show alterations in the connectivity of brain regions involved in stress responsiveness and emotion regulation during aversive visceral stimuli compared to those with l carriers.

  14. Fatigue reliability for LNG carrier

    Institute of Scientific and Technical Information of China (English)

    Xiao Taoyun; Zhang Qin; Jin Wulei; Xu Shuai

    2011-01-01

    The procedure of reliability-based fatigue analysis of liquefied natural gas (LNG) carrier of membrane type under wave loads is presented. The stress responses of the hotspots in regular waves with different wave heading angles and wave lengths are evaluated by global ship finite element method (FEM). Based on the probabilistic distribution function of hotspots' short-term stress-range using spectral-based analysis, Weibull distribution is adopted and discussed for fitting the long-term probabilistic distribution of stress-range. Based on linear cumulative damage theory, fatigue damage is characterized by an S-N relationship, and limit state function is established. Structural fatigue damage behavior of several typical hotspots of LNG middle ship section is clarified and reliability analysis is performed. It is believed that the presented results and conclusions can be of use in calibration for practical design and initial fatigue safety evaluation for membrane type LNG carrier.

  15. A Customized Finger Brachytherapy Carrier

    OpenAIRE

    Wadhwa, Supneet Singh; Duggal, Nidhi

    2013-01-01

    In recent years, radiation therapy has been used with increasing frequency in the management of neoplasms of the head and neck region. Brachytherapy is a method of radiation treatment in which sealed radioactive sources are used to deliver the dose a short distance by interstitial (direct insertion into tissue), intracavitary (placement within a cavity) or surface application (molds). Mold brachytherapy is radiation delivered via a custom-fabricated carriers, designed to provide a more consta...

  16. Association of VAV2 and VAV3 polymorphisms with cardiovascular risk factors

    Science.gov (United States)

    Perretta-Tejedor, Nuria; Fernández-Mateos, Javier; García-Ortiz, Luis; Gómez-Marcos, Manuel A.; Recio-Rodríguez, José I.; Agudo-Conde, Cristina; Rodriguez-Sánchez, Emiliano; Morales, Ana I.; López-Hernández, Francisco J.; López-Novoa, José M.; González-Sarmiento, Rogelio; Martínez-Salgado, Carlos

    2017-01-01

    Hypertension, diabetes and obesity are cardiovascular risk factors closely associated to the development of renal and cardiovascular target organ damage. VAV2 and VAV3, members of the VAV family proto-oncogenes, are guanosine nucleotide exchange factors for the Rho and Rac GTPase family, which is related with cardiovascular homeostasis. We have analyzed the relationship between the presence of VAV2 rs602990 and VAV3 rs7528153 polymorphisms with cardiovascular risk factors and target organ damage (heart, vessels and kidney) in 411 subjects. Our results show that being carrier of the T allele in VAV2 rs602990 polymorphism is associated with an increased risk of obesity, reduced levels of ankle-brachial index and diastolic blood pressure and reduced retinal artery caliber. In addition, being carrier of T allele is associated with increased risk of target organ damage in males. On the other hand, being carrier of the T allele in VAV3 rs7528153 polymorphism is associated with a decreased susceptibility of developing a pathologic state composed by the presence of hypertension, diabetes, obesity or cardiovascular damage, and with an increased risk of developing altered basal glycaemia. This is the first report showing an association between VAV2 and VAV3 polymorphisms with cardiovascular risk factors and target organ damage. PMID:28157227

  17. Preventative maintenance of straddle carriers

    Directory of Open Access Journals (Sweden)

    Si Li

    2015-02-01

    Full Text Available Background: Robotic vehicles such as straddle carriers represent a popular form of cargo handling amongst container terminal operators.Objectives: The purpose of this industry-driven study is to model preventative maintenance (PM influences on the operational effectiveness of straddle carriers.Method: The study employs historical data consisting of 21 273 work orders covering a 27-month period. Two models are developed, both of which forecast influences of PM regimes for different types of carrier.Results: The findings of the study suggest that the reliability of the straddle fleet decreases with increased intervals of PM services. The study also finds that three factors – namely resources, number of new straddles, and the number of new lifting work centres – influence the performances of straddles.Conclusion: The authors argue that this collaborative research exercise makes a significant contribution to existing supply chain management literature, particularly in the area of operations efficiency. The study also serves as an avenue to enhance relevant management practice.

  18. Risk of asthma in heterozygous carriers for cystic fibrosis

    DEFF Research Database (Denmark)

    Nielsen, Anne Orholm; Qayum, Sadaf; Bouchelouche, Pierre Nourdine;

    2016-01-01

    BACKGROUND: Patients with cystic fibrosis (CF) have a higher prevalence of asthma than the background population, however, it is unclear whether heterozygous CF carriers are susceptible to asthma. Given this, a meta-analysis is necessary to determine the veracity of the association of CF...

  19. Mobile charge carriers in pulse-irradiated poly- and oligothiophenes

    NARCIS (Netherlands)

    Haas, M.P. de; Laan, G.P. van der; Wegewijs, B.; Leeuw, D.M. de; Bäuerle, P.; Rep, D.B.A.; Fichou, D.

    1999-01-01

    Lower limits of the intrinsic charge carrier mobility in the solid phase of a series of oligothiophene compounds were determined with the pulse-radiolysis time-resolved microwave conductivity technique, PR-TRMC. The mobility values fall roughly into two regimes and show no correlation with the numbe

  20. The Common Acid Sphingomyelinase Polymorphism p.G508R is Associated with Self-Reported Allergy

    Directory of Open Access Journals (Sweden)

    Martin Reichel

    2014-06-01

    Full Text Available Background: Acid sphingomyelinase (ASM is a key regulator of ceramide-dependent signalling pathways. Among others, activation of ASM can be induced by CD95 or cytokine signalling and by cellular stress resulting from inflammation or infection. Increased ASM activity was observed in a variety of human diseases including inflammatory and neuropsychiatric disorders. We hypothesized that basal ASM activity might influence the susceptibility for common human diseases. Methods: The general health condition of 100 young people was assessed using a questionnaire. The ASM polymorphism rs1050239 (c.1522G>A; encoding p.G508R was determined from genomic DNA. Activities of secretory (S- and lysosomal (L- ASM were measured in blood plasma and peripheral blood cells respectively. Results: The polymorphism rs1050239 was significantly associated with self-reported allergy (p=4.68×10-4; adjusted p-value for multiple testing 0.007. Allergy was more prevalent in carriers of the minor A allele compared to non-carriers (p=0.00015; odds ratio=6.5, 95% CI 2.15-21.7. S-ASM activity was significantly associated with rs1050239 (p=5.3×10-7 and decreased with the number of A alleles in a gene-dosage dependent manner. In allergic patients, S-ASM activity was moderately decreased (p=0.034. L-ASM activity was significantly lower in subjects homozygous for the minor A allele (p=0.025 but not different between allergic and non-allergic subjects (p=0.318. Conclusion: Our analysis provides evidence for an involvement of ASM in the pathophysiology of allergy, which is in line with previous reports addressing the role of sphingolipids in this disorder. Further studies should clarify the mechanism linking rs1050239 to allergy. The ASM pathway might be useful for predicting allergic disposition and disease course and as a therapeutic target.

  1. Spacelab carrier complement thermal design and performance

    Science.gov (United States)

    Bancroft, S.; Key, R.; Kittredge, S.

    1992-01-01

    The present discussion of the Spacelab carrier complement, which encompasses a Module Carrier, a Module-Pallet Carrier, and a Multiplexer/Demultiplexer Pallet, gives attention to both active and passive thermal performance capabilities, and presents ground testing and analytical results obtained to date. An account is given of the prospective use of a Spacelab Multipurpose Experiment Support Structure.

  2. Responsible implementation of expanded carrier screening

    Science.gov (United States)

    Henneman, Lidewij; Borry, Pascal; Chokoshvili, Davit; Cornel, Martina C; van El, Carla G; Forzano, Francesca; Hall, Alison; Howard, Heidi C; Janssens, Sandra; Kayserili, Hülya; Lakeman, Phillis; Lucassen, Anneke; Metcalfe, Sylvia A; Vidmar, Lovro; de Wert, Guido; Dondorp, Wybo J; Peterlin, Borut

    2016-01-01

    This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines. PMID:26980105

  3. Responsible implementation of expanded carrier screening.

    Science.gov (United States)

    Henneman, Lidewij; Borry, Pascal; Chokoshvili, Davit; Cornel, Martina C; van El, Carla G; Forzano, Francesca; Hall, Alison; Howard, Heidi C; Janssens, Sandra; Kayserili, Hülya; Lakeman, Phillis; Lucassen, Anneke; Metcalfe, Sylvia A; Vidmar, Lovro; de Wert, Guido; Dondorp, Wybo J; Peterlin, Borut

    2016-06-01

    This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.

  4. 7 CFR 33.4 - Carrier.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Carrier. 33.4 Section 33.4 Agriculture Regulations of the Department of Agriculture AGRICULTURAL MARKETING SERVICE (Standards, Inspections, Marketing... ISSUED UNDER AUTHORITY OF THE EXPORT APPLE ACT Definitions § 33.4 Carrier. Carrier means any common...

  5. Association between Single Nucleotide Polymorphism rs1044925 and the Risk of Coronary Artery Disease and Ischemic Stroke

    Directory of Open Access Journals (Sweden)

    Dong-Feng Wu

    2014-02-01

    Full Text Available The present study was performed to clarify the association between the acyl-CoA:cholesterol acyltransferase-1 (ACAT-1 single nucleotide polymorphism (SNP rs1044925 and the risk of coronary artery disease (CAD and ischemic stroke (IS in the Guangxi Han population. Polymerase chain reaction and restriction fragment length polymorphism was performed to determine the genotypes of the ACAT-1 SNP rs1044925 in 1730 unrelated subjects (CAD, 587; IS, 555; and healthy controls; 588. The genotypic and allelic frequencies of rs1044925 were significantly different between the CAD patients and controls (p = 0.015 and borderline different between the IS patients and controls (p = 0.05. The AC/CC genotypes and C allele were associated with a decreased risk of CAD and IS (CAD: p = 0.014 for AC/CC vs. AA, p = 0.022 for C vs. A; IS: p = 0.014 for AC/CC vs. AA; p = 0.017 for C vs. A. The AC/CC genotypes in the healthy controls, but not in CAD or IS patients, were associated with an increased serum high-density lipoprotein cholesterol (HDL-C concentration. The present study shows that the C allele carriers of ACAT-1 rs1044925 were associated with an increased serum HDL-C level in the healthy controls and decreased risk in CAD and IS patients.

  6. Diverse prognostic value of the GTn promoter polymorphism in squamous cell and adeno carcinoma of the oesophagus.

    Science.gov (United States)

    Ghadban, T; Miro, J T; Trump, F; Tsui, T Y; Uzunoglu, F G; Reeh, M; Gebauer, F; Bachmann, K; Wellner, U; Kalinin, V; Pantel, K; Izbicki, J R; Vashist, Y K

    2016-10-01

    The basal transcription of heme oxygenase-1 (HO-1) regulation is dependent upon a GT repeat germ line polymorphism (GTn) in the promoter of the HO-1 gene. We determined the prognostic value of HO-1 promoter polymorphism on the natural postoperative course of complete resected oesophageal cancer. Genomic DNA from 297 patients was amplified by polymerase chain reaction and sequenced. The results were correlated with clinicopathological parameters, disseminated tumour cells in bone marrow (DTC) and clinical outcome. Depending on short allele with GTn repeats three genotypes (SS, SL and LL) were defined. A diverse role of GTn was evident in squamous cell carcinoma (SCC) and adenocarcinoma (AC). In SCC, the SS genotype presented less advanced tumours with lower rate DTC in bone marrow and relapse compared with L-allele carriers. In contrast, AC patients with the SS genotype displayed a complete opposing tumour characteristic. The disease-free (DFS) and overall survival (OS) in SCC patients was markedly reduced in LL genotypes (p GTn is a strong prognostic factor with diverse prognostic value for recurrence and survival in AC and SCC.

  7. Facilitated transport near the carrier saturation limit

    Directory of Open Access Journals (Sweden)

    Anawat Sungpet

    2002-11-01

    Full Text Available Permeation of ethylbenzene, styrene and 1-hexene through perfluorosulfonate ionomer membranes was carried out with the feed concentrations ranging from 1 M to pure. On comparison, fluxes of ethylbenzene through the Ag+-form membrane were the lowest. Only a small increase in ethylbenzene flux was observed after the feed concentration exceeded 3 M, indicating the existence of carrier saturation. The increase in styrene flux was suppressed to some degree at high concentration driving forces. In contrast, 1-hexene flux was the highest and continued to increase even at very high feed concentrations. After the experiments with pure feeds, extraction of the solutes from the membranes revealed that 62.5% of Ag+ ions reacted with 1-hexene as against 40.6% for styrene and 28.9% for ethylbenzene. Equilibrium constants, determined by distribution method, of 1-hexene, styrene and ethylbenzene were 129, 2.2 and 0.7 M-1 respectively, which suggested that stability of the complex was a key factor in the carrier saturation phenomenon.

  8. Renalase Gene Polymorphism in Patients After Renal Allograft Transplantation

    Directory of Open Access Journals (Sweden)

    Andrzej Pawlik

    2014-06-01

    Full Text Available Background/Aims: Renalase is a recently discovered protein, which is likely involved in regulation of blood pressure in humans and animals. Previous studies suggest that renalase reflects kidney functioning. A common missense polymorphism in the flavin-adenine dinucleotide-binding domain of human renalase (Glu37Asp has been described. In this study we examined the association between (Glu37Asp polymorphism (rs2296545 in renalase gene and kidney allograft function. Methods: The study enrolled 270 Caucasian kidney allograft recipients. SNP within the renalase was genotyped using TaqMan genotyping assays. Results: There were no statistically significant associations between renalase gene rs2296545 polymorphism and delayed graft function, acute rejection, chronic allograft dysfunction as well as creatinine serum concentrations and blood pressure values after transplantation. Conclusions: The results of this study suggest, that renalase gene rs2296545 polymorphism is not important factor determining renal allograft function.

  9. Correlation of hot-carrier stress and ionization induced degradation in bipolar transistors

    Energy Technology Data Exchange (ETDEWEB)

    Pease, R.L. [RLP Research, Inc., (United States). Albuquerque, NM; Kosier, S.L.; Schrimpf, R.D. [Arizona Univ., Tucson, AZ (United States). Dept. of Electrical and Computer Engineering; Combs, W.E. [Naval Surface Warfare Center, Crane, IN (United States); DeLaus, M. [Analog Devices, Wilmington, MA (United States); Fleetwood, D.M. [Sandia National Labs., Albuquerque, NM (United States)

    1994-03-01

    The correlation of hot carrier stress and ionization induced gain degradation in npn BJTs was studied to determine if hot-carrier stress could be used as a hardness assurance tool for total dose. The correlation was measured at the wafer level and for several hardening variations for a single process technology. Additional experiments are planned and will be presented in the full paper. Based on a detailed physical analysis of the mechanisms for hot-carrier stress and ionization no correlation was expected. The results demonstrated the lack of correlation and indicate that hot-carrier stress degradation is not a predictor of total dose response.

  10. NREL Studies Carrier Separation and Transport in Perovskite Solar Cells

    Energy Technology Data Exchange (ETDEWEB)

    2016-01-01

    NREL scientists studied charge separation and transport in perovskite solar cells by determining the junction structure across the solar device using the nanoelectrical characterization technique of Kelvin probe force microscopy. The distribution of electrical potential across both planar and porous devices demonstrates a p-n junction structure at the interface between titanium dioxide and perovskite. In addition, minority-carrier transport within the devices operates under diffusion/drift. Clarifying the fundamental junction structure provides significant guidance for future research and development. This NREL study points to the fact that improving carrier mobility is a critical factor for continued efficiency gains in perovskite solar cells.

  11. 49 CFR 376.22 - Exemption for private carrier leasing and leasing between authorized carriers.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 5 2010-10-01 2010-10-01 false Exemption for private carrier leasing and leasing... MOTOR CARRIER SAFETY REGULATIONS LEASE AND INTERCHANGE OF VEHICLES Exemptions for the Leasing Regulations § 376.22 Exemption for private carrier leasing and leasing between authorized carriers....

  12. 26 CFR 1.9200-1 - Deduction for motor carrier operating authority.

    Science.gov (United States)

    2010-04-01

    ... must be based on the same fair market values that are used to determine the amount of the stock basis... motor carrier operating authority divided by 60. (d) Definition of motor carrier-operating authority... do not include persons meeting the definition of freight forwarder contained in 49 U.S.C. 10102...

  13. 75 FR 22842 - Polyethylene Retail Carrier Bags From Indonesia, Taiwan, and Vietnam

    Science.gov (United States)

    2010-04-30

    ... COMMISSION Polyethylene Retail Carrier Bags From Indonesia, Taiwan, and Vietnam Determinations On the basis... imports from Vietnam of polyethylene retail carrier bags (PRCBs), provided for in subheading 3923.21.00 of... Commerce (Commerce) to be subsidized by the Government of Vietnam.\\2\\ The Commission further...

  14. 32 CFR 861.6 - DOD review of foreign air carriers.

    Science.gov (United States)

    2010-07-01

    ... the foreign air carrier must meet ICAO standards as determined by ICAO, or the FAA under the FAA's... the CAA is not in compliance with ICAO standards. Unless otherwise authorized, use by DOD personnel on official business of foreign air carriers from countries in which the CAA is not in compliance with...

  15. 42 CFR 405.512 - Carriers' procedural terminology and coding systems.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Carriers' procedural terminology and coding systems... Determining Reasonable Charges § 405.512 Carriers' procedural terminology and coding systems. (a) General. Procedural terminology and coding systems are designed to provide physicians and third party payers with...

  16. Unified description of charge-carrier mobilities in disordered semiconducting polymers

    NARCIS (Netherlands)

    Pasveer, WF; Cottaar, J; Tanase, C; Coehoorn, R; Bobbert, PA; Blom, PWM; de Leeuw, DM; Michels, MAJ

    2005-01-01

    From a numerical solution of the master equation for hopping transport in a disordered energy landscape with a Gaussian density of states, we determine the dependence of the charge-carrier mobility on temperature, carrier density, and electric field. Experimental current-voltage characteristics in d

  17. Unified Description of Charge-Carrier Mobilities in Disordered Semiconducting Polymers

    NARCIS (Netherlands)

    Pasveer, W.F.; Cottaar, J.; Tanase, C.; Coehoorn, R.; Bobbert, P.A.; Blom, P.W.M.; De Leeuw, D.M.; Michels, M.A.J.

    2005-01-01

    From a numerically exact solution of the Master equation for hoppingtransport in a disordered energy landscape with a Gaussian densityof states, we determine the dependence on temperature, carrier density, and electric field of the charge carrier mobility. Experimentalspace-charge limited currents i

  18. Association of the myeloperoxidase-468G→A polymorphism with gastric inflammation and duodenal ulcer risk

    Institute of Scientific and Technical Information of China (English)

    Ping-I Hsu; Jin-Liang Chen; Yu-Shan Chen; Angela Chen; Jyh-Jen Jwo; Hui-Hwa Tseng; Kwok-Hung Lai; Gin-Ho Lo; Ching-Chu Lo; Chung-Jen Wu; Seng-Kee Chuah; Il- Ran Hwang

    2005-01-01

    AIM: To eluddate the relations between the myeloperoxidase -468G→A polymorphism and the development of duodenal ulcer (DU), and to investigate the impacts of this host genetic polymorphism on the histopathological featuresof Helicobacter pylori ( H pylori)-related gastritis. METHODS: In a case-control study of 115 consecutive DU patients and 182 controls, the myeloperoxidase-468G→A polymorphism was genotyped. Additionally, gastric mucosal changes were examined according to the updated Sydney System.RESULTS: The two study groups differed in the distributionsof myelperoxidase genotypes (P= 0.008). All six individuals carrying myeloperoxidase A/A genotypes were in the DU group. The carriage of myeloperoxidase allele A and H pylori infection were associated with an increased risk of DU with odds ratios (OR) of 2.3 and 5.8, respectively. Thecombined risk of the carriage of myeloperoxidase allele A and H pylori infection for DU was 8.7 (95% CI, 3.5-21.8). In the H pylori-infected individuals, allele A carriers displayed higher bacterial density scores (P = 0.04) inthe antrum than did non-carriers.CONCLUSION: This work verifies for the first time the association of myeloperoxidase-468G→A polymorphism with antral H pyloridensity and DU disease. The mechanisms underlying this genetic polymorphism in developing DU disease merit further investigations.

  19. Association of BIM Deletion Polymorphism and BIM-γ RNA Expression in NSCLC with EGFR Mutation

    OpenAIRE

    Isobe, Kazutoshi; KAKIMOTO, ATSUSHI; Mikami, Tetsuo; KABURAKI, KYOHEI; Kobayashi, Hiroshi; Yoshizawa, Takahiro; Makino, Takashi; Otsuka, Hajime; Sano, Go; Sugino, Keishi; Sakamoto, Susumu; Takai, Yujiro; Tochigi, Naobumi; Iyoda, Akira; Homma, Sakae

    2016-01-01

    Aim: This pilot study assessed the association of BIM deletion polymorphism and BIM RNA isoform in patients with EGFR-positive non-small cell lung cancer (NSCLC). Patients and Methods: The study included 33 patients with EGFR-positive NSCLC treated with gefitinib. BIM deletion polymorphism and BIM RNA isoform (EL/L/S/γ) were determined by polymerase chain reaction (PCR). Results: BIM-γ expression was significantly higher in patients with BIM deletion polymorphism than among those without BIM ...

  20. Carrier synchronization for STBC OFDM systems

    Institute of Scientific and Technical Information of China (English)

    Cai Jueping; Song Wentao; Li Zan; Ge Jianhua

    2005-01-01

    All-digital carrier synchronization strategies and algorithms for space-time block coding (STBC) orthogonal frequency division multiplexing (OFDM) are proposed in this paper. In our scheme, the continuous pilots (CP) are saved, and the complexity of carrier synchronization is reduced significantly by dividing the process into three steps. The coarse carrier synchronization and the fine carrier synchronization algorithms are investigated and analyzed in detail. Simulations show that the carrier can be locked into tracking mode quickly, and the residual frequency error satisfies the system requirement in both stationary and mobile environments.

  1. Estimation of springing response for 550 000 DWT ore carrier

    Science.gov (United States)

    Adenya, Christiaan Adika; Ren, Huilong; Li, Hui; Wang, Di

    2016-09-01

    The desire to benefit from economy of scale is one of the major driving forces behind the continuous growth in ship sizes. However, models of new large ships need to be thoroughly investigated to determine the carrier's response in waves. In this work, experimental and numerical assessments of the motion and load response of a 550,000 DWT ore carrier are performed using prototype ships with softer stiffness, and towing tank tests are conducted using a segmented model with two schemes of softer stiffness. Numerical analyses are performed employing both rigid body and linear hydroelasticity theories using an in-house program and a comparison is then made between experimental and numerical results to establish the influence of stiffness on the ore carrier's springing response. Results show that softer stiffness models can be used when studying the springing response of ships in waves.

  2. Augmenting drug-carrier compatibility improves tumour nanotherapy efficacy

    Science.gov (United States)

    Zhao, Yiming; Fay, François; Hak, Sjoerd; Manuel Perez-Aguilar, Jose; Sanchez-Gaytan, Brenda L.; Goode, Brandon; Duivenvoorden, Raphaël; de Lange Davies, Catharina; Bjørkøy, Astrid; Weinstein, Harel; Fayad, Zahi A.; Pérez-Medina, Carlos; Mulder, Willem J. M.

    2016-04-01

    A major goal of cancer nanotherapy is to use nanoparticles as carriers for targeted delivery of anti-tumour agents. The drug-carrier association after intravenous administration is essential for efficient drug delivery to the tumour. However, a large number of currently available nanocarriers are self-assembled nanoparticles whose drug-loading stability is critically affected by the in vivo environment. Here we used in vivo FRET imaging to systematically investigate how drug-carrier compatibility affects drug release in a tumour mouse model. We found the drug's hydrophobicity and miscibility with the nanoparticles are two independent key parameters that determine its accumulation in the tumour. Next, we applied these findings to improve chemotherapeutic delivery by augmenting the parent drug's compatibility; as a result, we achieved better antitumour efficacy. Our results help elucidate nanomedicines' in vivo fate and provide guidelines for efficient drug delivery.

  3. Prospects of carrier screening of aspartylglucosaminuria in Finland.

    Science.gov (United States)

    Hietala, M; Grön, K; Syvänen, A C; Peltonen, L; Aula, P

    1993-01-01

    The frequency of carriers of the AGUFin mutation, the predominant mutation causing aspartylglucosaminuria in Finland, was determined in a population sample comprising 553 newborns from a delivery hospital in southern Finland, and 607 from a hospital in northern Finland. The AGUFin point mutation was identified from cord blood samples using the PCR-based, solid-phase minisequencing method. Nineteen carriers of the AGUFin mutation were detected, 8 (1:69) in the sample from the southern and 11 (1:55) from the northern population, respectively. The solid-phase minisequencing method proved to be rapid and convenient for the detection of the AGUFin mutation, and can readily be applied in large-scale carrier screening at the population level.

  4. [Carriers of Neisseria meningitidis among children from a primary school].

    Science.gov (United States)

    Martínez, Isabel; López, Omar; Sotolongo, Franklin; Mirabal, Mayelin; Bencomo, Antonio

    2003-01-01

    A cross-sectional and descriptive study was conducted among 318 children from the "Mártires del Corynthia" Primary School under the authorization of the Municipal Division of Education and the informed consent of their parents aimed at knowing the prevalence of meningoccoco carriers in school children, determining the epidemiological markers of the isolated strains and establishing the possible relation existing between the carrier and variables, such as age, sex, acute respiratory infection history, hacinamiento, amigdalectomy, inhibitory effect of of the accompanying flora and the secretory state of ABH antigens in saliva. All of them underwent nasopharyngeal exudate and a saliva sample was taken. In adition, the paents were surveyed about the risks factors to be investigated. 6.9 % of meningoccoco carriers were found and the NA:NT:P1:NST:L3,7,9 strains predominated. The risk factors with statistically significant results regarding the condition of carrier Neisseria meningitidis carrier were age, acute respiratory infection history, and the presence of Streptococcus pneumoniae and Neisseria lactamica of the accompanying bacterial flora in the nasopharynx of the children under study.

  5. Non-permeable substrate carrier for electroplating

    Energy Technology Data Exchange (ETDEWEB)

    Abas, Emmanuel Chua; Chen, Chen-An; Ma, Diana Xiaobing; Ganti, Kalyana Bhargava

    2012-11-27

    One embodiment relates to a substrate carrier for use in electroplating a plurality of substrates. The substrate carrier comprises a non-conductive carrier body on which the substrates are to be held. Electrically-conductive lines are embedded within the carrier body, and a plurality of contact clips are coupled to the electrically-conductive lines embedded within the carrier body. The contact clips hold the substrates in place and electrically couple the substrates to the electrically-conductive lines. The non-conductive carrier body is continuous so as to be impermeable to flow of electroplating solution through the non-conductive carrier body. Other embodiments, aspects and features are also disclosed.

  6. Non-permeable substrate carrier for electroplating

    Energy Technology Data Exchange (ETDEWEB)

    Abas, Emmanuel Chua; Chen, Chen-an; Ma, Diana Xiaobing; Ganti, Kalyana; Divino, Edmundo Anida; Ermita, Jake Randal G.; Capulong, Jose Francisco S.; Castillo, Arnold Villamor

    2015-12-29

    One embodiment relates to a substrate carrier for use in electroplating a plurality of substrates. The substrate carrier comprises a non-conductive carrier body on which the substrates are to be held. Electrically-conductive lines are embedded within the carrier body, and a plurality of contact clips are coupled to the electrically-conductive lines embedded within the carrier body. The contact clips hold the substrates in place and electrically couple the substrates to the electrically-conductive lines. The non-conductive carrier body is continuous so as to be impermeable to flow of electroplating solution through the non-conductive carrier body. Other embodiments, aspects and features are also disclosed.

  7. A new and improved method based on polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for the determination of A1298C mutation in the methylenetetrahydrofolate reductase (MTHFR) gene.

    Science.gov (United States)

    Machnik, Grzegorz; Zapala, Malgorzata; Pelc, Ewa; Gasecka-Czapla, Monika; Kaczmarczyk, Grzegorz; Okopien, Boguslaw

    2013-01-01

    Intracellular folate homeostasis and metabolism is regulated by numerous genes. Among them, 5,10-methylenetetrahydrofolate reductase (MTHFR) is of special interest because of its involvement in regulation of the homocysteine level in the body as a result of folate metabolism. Moreover, some studies demonstrated that the homocysteine plasma level in individuals may be influenced by polymorphisms present in the MTHFR gene. Two common, clinically relevant mutations have been described: MTHFR C677T and MTHFR A1298C. Although several laboratory techniques allow genotyping of both polymorphisms, PCR-RFLP analysis is simple to perform, relatively cheap, and thus one of the most utilized. In the case of A1298C, the PCR-RFLP technique that utilizes MboII endonuclease class II requires an acrylamide gel electrophoresis, since agarose gel electrophoresis is unable to resolve short deoxyribonucleic acid (DNA) fragments after restriction digestion. Agarose gel electrophoresis is commonly preferred over that of acrylamide. To resolve this inconvenience, a novel PCR-RFLP, AjuI-based method to genotype A1298C alleles has been developed that can be performed on standard agarose gel.

  8. Association between promoter polymorphisms of OPN gene and cancer risk: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Liu JW

    2015-12-01

    Full Text Available Jingwei Liu,1–2 Caiyun He,1–2 Quan Yuan,1–2 Zhenning Wang,1–2 Chengzhong Xing,1–2 Yuan Yuan1–2 1Tumor Etiology and Screening Department of Cancer Institute and General Surgery, The First Affiliated Hospital of China Medical University, 2Key Laboratory of Cancer Etiology and Prevention, China Medical University, Liaoning Provincial Education Department, Shenyang, People’s Republic of China Background: Results of the association between polymorphisms of osteopontin (OPN gene promoter region and risk of cancer were inconclusive. The aim of this meta-analysis was to elucidate whether OPN promoter polymorphisms were associated with cancer risk.Methods: Electronic databases including PubMed, Web of Science, and Chinese National Knowledge Infrastructure were systematically searched. Odd ratios (ORs and their 95% confidential interval (CI were used to assess the strength of association between OPN promoter polymorphisms and cancer risks.Results: Nine studies were finally included in this meta-analysis. For OPN rs17524488 polymorphism, carriers of GG or -/G genotype were significantly associated with increased cancer risk compared with wild-type -/- carriers, respectively (GG vs -/-: OR =1.40, 95% CI =1.03–1.91, P=0.033; -/G vs -/-: OR =1.22, 95% CI =1.07–1.40, P=0.002. Additionally, G allele was significantly associated with increased cancer risk compared with (- allele (OR =1.21, 95% CI =1.04–1.40, P=0.016. However, no significant association was observed of OPN rs11730582 polymorphism and cancer risk (CC vs TT: OR =0.98, 95% CI =0.49–1.97, P=0.964; CT vs TT: OR =0.88, 95% CI =0.54–1.43, P=0.610.Conclusion: Carriers of GG or -/G genotype of OPN promoter rs17524488 (-156-/G polymorphism might be associated with increased risk of cancer compared with wild-type -/- carriers, respectively. However, no significant association was observed between OPN promoter rs11730582 (-443C/T polymorphism and risk of cancer. Keywords: OPN

  9. The AGT Gene M235T Polymorphism and Response of Power-Related Variables to Aerobic Training

    Directory of Open Access Journals (Sweden)

    Zarębska Aleksandra, Jastrzębski Zbigniew, Moska Waldemar, Leońska-Duniec Agata, Kaczmarczyk Mariusz, Sawczuk Marek, Maciejewska-Skrendo Agnieszka, Żmijewski Piotr, Ficek Krzysztof, Trybek Grzegorz, Lulińska-Kuklik Ewelina, Ekaterina A. Semenova, Ildus I. Ahmetov, Cięszczyk Paweł

    2016-12-01

    Full Text Available The C allele of the M235T (rs699 polymorphism of the AGT gene correlates with higher levels of angiotensin II and has been associated with power and strength sport performance. The aim of the study was to investigate whether or not selected power-related variables and their response to a 12-week program of aerobic dance training are modulated by the AGT M235T genotype in healthy participants. Two hundred and one Polish Caucasian women aged 21 ± 1 years met the inclusion criteria and were included in the study. All women completed a 12-week program of low and high impact aerobics. Wingate peak power and total work capacity, 5 m, 10 m, and 30 m running times and jump height and jump power were determined before and after the training programme. All power-related variables improved significantly in response to aerobic dance training. We found a significant association between the M235T polymorphism and jump-based variables (squat jump (SJ height, p = 0.005; SJ power, p = 0.015; countermovement jump height, p = 0.025; average of 10 countermovement jumps with arm swing (ACMJ height, p = 0.001; ACMJ power, p = 0.035. Specifically, greater improvements were observed in the C allele carriers in comparison with TT homozygotes. In conclusion, aerobic dance, one of the most commonly practiced adult fitness activities in the world, provides sufficient training stimuli for augmenting the explosive strength necessary to increase vertical jump performance. The AGT gene M235T polymorphism seems to be not only a candidate gene variant for power/strength related phenotypes, but also a genetic marker for predicting response to training.

  10. Polymorphisms at the 3' untranslated region of SLC11A1 gene are associated with protection to Brucella infection in goats.

    Science.gov (United States)

    Iacoboni, Paola A; Hasenauer, Flavia C; Caffaro, M Eugenia; Gaido, Analia; Rossetto, Cristina; Neumann, Roberto D; Salatin, Antonio; Bertoni, Emiliano; Poli, Mario A; Rossetti, Carlos A

    2014-08-15

    Goats are susceptible to brucellosis and the detection of Brucella-infected animals is carried out by serological tests. In other ruminant species, polymorphisms in microsatellites (Ms) of 3' untranslated region (3'UTR) of the solute carrier family 11 member A1 (SLC11A1) gene were associated with resistance to Brucella abortus infection. Goats present two polymorphic Ms at the 3'UTR end of SLC11A1 gene, called regions A and B. Here, we evaluated if polymorphisms in regions A and/or B are associated with Brucella infection in goats. Serum (for the detection of Brucella-specific antibodies) and hair samples (for DNA isolation and structure analysis of the SLC11A1 gene) were randomly collected from 229 adult native goats from the northwest of Argentina. Serological status was evaluated by buffer plate antigen test (BPAT) complemented by the fluorescent polarization assay (FPA), and the genotype of the 3'UTR of the SLC11A1 gene was determined by capillary electrophoresis and confirmed by sequence analysis. Polymorphisms in regions A and B of the 3'UTR SLC11A1 gene were found statistically significant associated with protection to Brucella infection. Specifically, the association study indicates statistical significance of the allele A15 and B7/B7 genotype with absence of Brucella-specific antibodies (p=0.0003 and 0.0088, respectively). These data open a promising opportunity for limiting goat brucellosis through selective breeding of animals based on genetic markers associated with natural resistance to B. melitensis infection.

  11. Relationship between the cholesterol ester transfer protein TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease.

    Science.gov (United States)

    Li, J; Zhang, L; Xie, N Z; Deng, B; Lv, L X; Zheng, L Q

    2014-03-24

    This study aimed to investigate the relationship between the cholesterol ester transfer protein (CETP) gene TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease. Two hundred eighty-eight patients were divided into a control group, an acute coronary syndrome (ACS) group, and a stable coronary heart disease (CHD) group. Blood biochemical indices were determined using the enzyme method, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was performed to study the TaqIB polymorphism of the CETP gene. The ACS and stable CHD groups were treated with atorvastatin, and blood lipid levels were reexamined after three months. Plasma levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and lipoprotein(a) were all significantly higher in the ACS and stable CHD groups compared to the control group (P < 0.05 or P < 0.01). After three months of treatment with atorvastatin, plasma levels of TC, LDL-C, triglycerides (TG) (only in patients with genotype B2B2), and lipoprotein(a) (only in patients with genotype B1B2) were all significantly decreased (P < 0.05 or P < 0.01). After treatment, the plasma level of TG was lower in patients with genotype B2B2 compared to patients with genotypes B1B1 or B1B2 (B1 carriers) (P < 0.01). Therefore, the CETP TaqIB polymorphism is associated with the lipid-lowering effect of atorvastatin in patients with CHD.

  12. A HindIII polymorphism detected by cDMD 4-5a at the DMD locus in a family with Becker muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gibb, M.F.; Greenberg, C.R.; Carson, N.L. [Health Sciences Centre, Winnipeg, Manitoba (Canada)

    1994-09-01

    Deletions within the dystrophin gene can be detected by hybridizing a series of cDNA probes to HindIII-digested DNA, with the absence of one or more fragments indicating the presence of a deletion. However, incorrect interpretations can be made if the absence of a fragment is due to a polymorphism rather than a deletion. Otto and Rothbery reported that the 5.2 kb fragment detected by cM 4-5a could be resolved, with extended electrophoresis, into two fragments estimated to be 5.2 and 5.15 kb in size. They concluded that the extra fragment of this doublet appears to be polymorphic, inherited in a Mendelian dominant fashion. The mother, who is an obligate carrier of BMD, does not have the upper fragment as is the case for her normal and affected sons. The father, who clinically has no evidence of neuromuscular disease, does have the upper fragment as do all their daughters. Given a dominant pattern of inheritance, the daughters should be heterozygous. Analysis of one grandson, who was predicted to have inherited the grandpaternal dystrophin gene, showed that he did have the upper fragment, consistent with our conclusions. To date, we have been unable to analyze a grandson that has inherited the grandmaternal allele; however, presuably he would not have the upper fragment of this doublet. We conclude that there likely is a dominant HindIII polymorphism detected with the cDMD 4-5a probe at the DMD locus. Population studies will be required to determine the frequency of this polymorphism; however, it should be noted that absence of the upper fragment of this doublet in a male with BMD/DMD does not necessarily correspond to the presence of a deletion.

  13. Fibromyalgia, mood disorders, and intense creative energy: A1AT polymorphisms are not always silent.

    Science.gov (United States)

    Schmechel, Donald E; Edwards, Christopher L

    2012-12-01

    Persons with single copies of common alpha-1-antitrypsin polymorphisms such as S and Z are often considered "silent carriers". Published evidence however supports a complex behavioral phenotype or trait - intense creative energy ("ICE")-associated with A1AT polymorphisms. We now confirm that phenotype and present an association of fibromyalgia syndrome (FMS) and A1AT in a consecutive series of neurological patients. This is a retrospective case control series of 3176 consecutive patients presenting to Duke University Memory Clinic (747 patients) and to regional community-based Caldwell Hospital Neurology and Memory center (2429 patients). Work-up included medical history and examination, psychological evaluation, and genetic analysis. Chronic widespread pain (CWP) or FMS were diagnosed according to clinical guidelines, mostly as secondary diagnoses. Neurological patients carrying A1AT polymorphisms were common (ca 16% prevalence) and carriers had significantly higher use of inhaler and anxiolytic medications. Patients with ICE phenotype had a significantly higher proportion of A1AT polymorphisms (42%) compared to non-ICE patients (13%). Presence of CWP or FMS was common (14-22%) with average age at presentation of 56 years old and mostly female gender (82%). Patients with CWP/FMS had again significantly higher proportion of A1AT polymorphisms (38%) compared to other neurological patients (13%). Patients with anxiety disorders, bipolar I or bipolar II disorders or PTSD also had increased proportion of A1AT polymorphisms and significant overlap with ICE and FMS phenotype. Significant reductions in CWP/FMS prevalence are seen in apolipoprotein E4 carriers and methylene tetrahydrofolate reductase (MTHFR) mutation homozygotes. Since ICE phenotype is reported as a lifelong behavioral attribute, the presumption is that A1AT carriers have fundamental differences in brain development and inflammatory response. In support of this concept is finding those persons reporting a

  14. Carrier Induced Magnetism In Correlated Materials

    Science.gov (United States)

    Lee, Byounghak; Trivedi, Nandini; Zhang, Shiwei; Martin, Richard

    2003-03-01

    We study a two dimensional Hubbard model with magnetic impurities using a combination of single particle and quantum Monte Carlo techniques. Our aim is to determine the interaction between magnetic ions in both strongly interacting hosts, such as magnetic perovskites, and weakly interacting hosts, such as magnetic semiconductors. In the first step, the interactions are treated within an inhomogeneous Hartree-Fock approach and self-consistency is demanded at each site, providing a more accurate treatment of disorder effects compared with other mean-field treatments such as virtual crystal and coherent potential approximations. These are then augmented with determinantal quantum Monte Carlo techniques that treat the electron interactions more accurately. We calculate the exchange coupling as a function of the magnetic impurity concentration, the repulsive electron-electron interaction, carrier concentration, and temperature. We compare the calculated local density of states with STM measurements and also obtain the ferromagnetic transition temperature.

  15. The use of halogen carriers and buffers in the spectrographic determination of boron in carbonaceous materials and their combustion products; Empleo de agentes halogenantes y reguladores en la determinacion espectrografica de Boro en carbones y productos derivados

    Energy Technology Data Exchange (ETDEWEB)

    Rucandio, M. I.; Martin, M.; Roca, M.

    1992-07-01

    For the determination of boron in carbonaceous materials (high purity graphite, coals and their processed products, such as ashes and slags from thermoelectric power plants) by atomic emission spectroscopy with direct current are excitation and photographic recording, the behaviour of the analyte in the presence of halide compounds or spectrochemical buffers has been studied. Among the halides, cupric fluoride at a low concentration (2%) becomes very suitable for the graphite analysis, and at a higher concentration (25 %) for coals, being necessary in this case to carry out a dilution of samples with graphite. Strontium carbonate as a spectrochemical buffer allows to analyse satisfactorily coals and their combustion products. (Author) 13 refs.

  16. Association of a single nucleotide polymorphism rs821597 in gene disrupted-in-schizophrenia-1 with white matter integrity

    Institute of Scientific and Technical Information of China (English)

    魏钦令

    2014-01-01

    Objective To explore the association of a single nucleotide polymorphism(SNP)rs821597 in gene disrupted-in-schizophrenia-1(DISC1)with white matter integrity in healthy people.Methods Sixty healthy persons were genotyped at the SNP rs821597 in DISC1 and were divided into two groups(risk allele carriers and non-risk allele

  17. BDNF Val66Met polymorphism as a moderator of exercise enhancement of smoking cessation treatment in anxiety vulnerable adults

    NARCIS (Netherlands)

    Smits, J.A.J.; Powers, M.B.; Rosenfield, D.; Zvolensky, M.J.; Jacquart, J.; Davis, M.L.; Beevers, C.G.; Marcus, B.H.; Church, T.S.; Otto, M.W.

    2016-01-01

    Background: Exercise interventions facilitate the odds of quit success among high-anxiety sensitive adults smokers. We examined the dependency of these benefits on the genetic BDNF Val66Met (rs6265) polymorphism; individuals who are Met carriers have lower BDNF responses and reduced associated benef

  18. The serotonin transporter gene polymorphism 5-HTTLPR moderates the effects of stress on attention-deficit/hyperactivity disorder

    NARCIS (Netherlands)

    van der Meer, Dennis; Hartman, Catharina A.; Richards, Jennifer; Bralten, Janita B.; Franke, Barbara; Oosterlaan, Jaap; Heslenfeld, Dirk J.; Faraone, Stephen V.; Buitelaar, Jan K.; Hoekstra, Pieter J.

    2014-01-01

    IntroductionThe role of the serotonin transporter gene polymorphism 5-HTTLPR in attention-deficit/hyperactivity disorder (ADHD) is unclear. Heterogeneity of findings may be explained by gene-environment interactions (GxE), as it has been suggested that S-allele carriers are more reactive to psychoso

  19. At What Cost a Carrier?

    Science.gov (United States)

    2013-03-01

    brushed At What Cost a Carrier?M A R C H 2 0 1 3 4 | with interest, consequently pushing to convert the coal supply ship Jupiter into an American aircra...began to pay o!. By 1999 only 4 tons of bombs were needed to accomplish the mission, regardless of the weather at the target. Couple this fact with...there, how many bombs does it drop? | 7 #e &rst fact that needs to be understood in answer- ing these questions is that piloting an aircra" onto the

  20. Hydrogen - A sustainable energy carrier

    Directory of Open Access Journals (Sweden)

    Kasper T. Møller

    2017-02-01

    Full Text Available Hydrogen may play a key role in a future sustainable energy system as a carrier of renewable energy to replace hydrocarbons. This review describes the fundamental physical and chemical properties of hydrogen and basic theories of hydrogen sorption reactions, followed by the emphasis on state-of-the-art of the hydrogen storage properties of selected interstitial metallic hydrides and magnesium hydride, especially for stationary energy storage related utilizations. Finally, new perspectives for utilization of metal hydrides in other applications will be reviewed.

  1. Association of sterol regulatory element binding protein 2 and insulin-like growth factor binding protein 3 genetic polymorphisms with avascular necrosis of the femoral head in the Chinese population

    Institute of Scientific and Technical Information of China (English)

    SONG Yang; DU Zhen-wu; LI Qiu-ju; ZHANG Gui-zhen; WANG Ling-ling; WU Ning; WANG Jin-cheng; GAO Zhong-li

    2012-01-01

    Background Sterol regulatory element binding protein(SREBP)-2 plays a key role in lipid homeostasis by stimulating gene expression of cholesterol biosynthetic pathways.The insulin-like growth factor binding protein(IGFBP)family regulates growth and metabolism,especially bone cell metabolism,and correlates with osteonecrosis.However,association of their gene polymorphisms with risk of avascular necrosis of the femoral head(ANFH)has rarely been reported.We determined whether SREBP-2 and IGFBP-3 gene polymorphisms were associated with increased ANFH risk in the Chinese population.Methods Two single nucleotide polymorphisms of SREBP2 gene,rs2267439 and rs2267443,and one of IGFBP-3 gene,rs2453839,were selected and genotyped in 49 ANFH patients and 42 control individuals by direct sequencing assay.Results The frequencies of rs2267439 TT and rs2267443 GA of SREBP2 and rs2453839 TT and CT of IGFBP-3 in the ANFH group showed increased and decreased tendencies(against normal control group),respectively.Interaction analysis of genes revealed that the frequency of carrying rs2267439 TT and rs2267443 GA genctypes of SREBF-2 in ANFH patients was significantly higher than in the control group(P<0.05).Association analysis between polymorphisms and clinical phenotype demonstrated that the disease course in ANFH patients with the rs2453839 TT genotype of IGFBP-3 was significantly shorter than that of CT+CC carriers(P<0.01).CT+CC genotype frequency in patients with stage Ⅲ/Ⅳ?bilateral hip lesions was significantly higher than in those with stage Ⅲ/Ⅳ?unilateral lesions and stage Ⅱ/Ⅲ?bilateral lesions(P<0.05-0.02).Conclusions Our results suggested that interaction of SREBP-2 gene polymorphisms and the relationship between the polymorphisms and clinical phenotype of IGFBP-3 were closely related to increased ANFH risk in the Chinese population.The most significant finding was that the CT+CC genotype carriers of IGFBP-3 rs2453839 were highly associated with the

  2. 78 FR 66801 - Motor Carrier Safety Advisory Committee; Charter Renewal

    Science.gov (United States)

    2013-11-06

    ... Federal Motor Carrier Safety Administration Motor Carrier Safety Advisory Committee; Charter Renewal AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Announcement of advisory... Committee that provides the Agency with advice and recommendations on motor carrier safety programs...

  3. The influence of serotonin transporter polymorphisms on cortical activity: A resting EEG study

    Directory of Open Access Journals (Sweden)

    Hong Chen-Jee

    2011-04-01

    Full Text Available Abstract Background The serotonin transporter gene (5-HTT is a key regulator of serotonergic neurotransmission and has been linked to various psychiatric disorders. Among the genetic variants, polymorphisms in the 5-HTT gene-linked polymorphic region (5-HTTLPR and variable-number-of-tandem-repeat in the second intron (5-HTTVNTR have functional consequences. However, their genetic impact on cortical oscillation remains unclear. This study examined the modulatory effects of 5-HTTLPR (L-allele carriers vs. non-carriers and 5-HTTVNTR (10-repeat allele carriers vs. non-carriers polymorphism on regional neural activity in a young female population. Methods Blood samples and resting state eyes-closed electroencephalography (EEG signals were collected from 195 healthy women and stratified into 2 sets of comparisons of 2 groups each: L-allele carriers (N = 91 vs. non-carriers for 5-HTTLPR and 10-repeat allele carriers (N = 25 vs. non-carriers for 5-HTTVNTR. The mean power of 18 electrodes across theta, alpha, beta, gamma, gamma1, and gamma2 frequencies was analyzed. Between-group statistics were performed by an independent t-test, and global trends of regional power were quantified by non-parametric analyses. Results Among 5-HTTVNTR genotypes, 10-repeat allele carriers showed significantly low regional power at gamma frequencies across the brain. We noticed a consistent global trend that carriers with low transcription efficiency of 5-HTT possessed low regional powers, regardless of frequency bands. The non-parametric analyses confirmed this observation, with P values of 3.071 × 10-8 and 1.459 × 10-12 for 5-HTTLPR and 5-HTTVNTR, respectively. Conclusions and Limitations Our analyses showed that genotypes with low 5-HTT activity are associated with less local neural synchronization during relaxation. The implication with respect to genetic vulnerability of 5-HTT across a broad range of psychiatric disorders is discussed. Given the low frequency of 10

  4. BRCA2 promoter polymorphism is associated with breast cancer prognosis in Chinese women

    Institute of Scientific and Technical Information of China (English)

    Liu Lu; Fang Yi; Fan Jianlin; Hu Jianming; Xu Xiaoting; Jin Xiaohong; Wang Xiuzhen

    2014-01-01

    Background Breast cancer 2 (BRCA2) is an important breast cancer-susceptibility gene.Promoter polymorphisms in BRCA2 may affect its transcription and be associated with cancer prognosis.Methods We identified five polymorphisms of the BRCA2 promoter region by in silico searching and direct sequencing:-254A/G (rs3092989),-908A/G (rs206117),-1134A/G (rs206115),-1144C/T (rs206116),and-1260CTTAGA/-(rs3072036).The-908A/G,-1134A/G,-1144C/T,and-1260CTTAGA/-polymorphisms were genotyped by direct sequencing in 491 breast cancer patients,and the-254A/G polymorphism was genotyped by Sequenom.Results The-1144C/T polymorphism was associated with clinical outcome.Carriers of the TT genotype had longer disease-free intervals (DFIs,P=0.029),especially among patients with sporadic unilateral breast cancer (P=0.010).Linkage disequilibrium (LD) analysis showed that all the five single nucleotide polymorphisms (SNPs) were in LD (D'>0.8).Carriers of haplotypes containing the-1144T allele showed longer DFIs (P=0.049),and the result was more significant in patients with sporadic unilateral cancer (P=0.018).There were no significant associations between the other polymorphisms and DFI.Conclusions The results of this study suggest that homozygosity for the BRCA2 T(-1144) allele is associated with a longer DFI in Chinese women with breast cancer.Further functional studies are warranted to clarify this relationship.

  5. Angiogenin gene polymorphism

    Institute of Scientific and Technical Information of China (English)

    Hongli Wang; Dongsheng Fan; Yingshuang Zhang

    2013-01-01

    Angiogenin is associated with the pathogenesis of diabetic peripheral neuropathy. Here, we se-quenced the coding region of the angiogenin gene in genomic DNA from 207 patients with type 2 diabetes mel itus (129 diabetic peripheral neuropathy patients and 78 diabetic non-neuropathy pa-tients) and 268 healthy controls. Al subjects were from the Han population of northern China. No mutations were found. We then compared the genotype and allele frequencies of the angiogenin synonymous single nucleotide polymorphism rs11701 between the diabetic peripheral neuropathy patients and controls, and between the diabetic neuropathy and non-neuropathy patients, using a case-control design. We detected no statistical y significant genetic associations. Angiogenin may not be associated with genetic susceptibility to diabetic peripheral neuropathy in the Han population of northern China.

  6. Gene Polymorphisms in Chronic Periodontitis

    Directory of Open Access Journals (Sweden)

    Marja L. Laine

    2010-01-01

    Full Text Available We aimed to conduct a review of the literature for gene polymorphisms associated with chronic periodontitis (CP susceptibility. A comprehensive search of the literature in English was performed using the keywords: periodontitis, periodontal disease, combined with the words genes, mutation, or polymorphism. Candidate gene polymorphism studies with a case-control design and reported genotype frequencies in CP patients were searched and reviewed. There is growing evidence that polymorphisms in the IL1, IL6, IL10, vitamin D receptor, and CD14 genes may be associated with CP in certain populations. However, carriage rates of the rare (-allele of any polymorphism varied considerably among studies and most of the studies appeared under-powered and did not correct for other risk factors. Larger cohorts, well-defined phenotypes, control for other risk factors, and analysis of multiple genes and polymorphisms within the same pathway are needed to get a more comprehensive insight into the contribution of gene polymorphisms in CP.

  7. Polymorphisms of the OXTR gene explain why sales professionals love to help customers

    OpenAIRE

    Verbeke, Willem J. M. I.; Richard P. Bagozzi; Wouter evan den Berg; Aurelie eLemmens

    2013-01-01

    Polymorphisms of the OXTR gene affect people’s social interaction styles in various social encounters: carriers of the OXTR GG, compared to the OXTR AA/AG in general, are more motivated to interact socially and detect social salience. We focus on sales professionals operating in knowledge intensive organizations. Study 1, with a sample of 141 sales people, shows that carriers of the OXTR GG allele, compared to the OXTR AA/AG allele, are more motivated to help customers than to manipulatively ...

  8. Milk Protein Polymorphism in Chinese Holstein Determined by High-Performance Liquid Chromatography%高效液相色谱法分析中国荷斯坦奶牛乳蛋白多态性

    Institute of Scientific and Technical Information of China (English)

    缪淑颖; 任大喜; 王侃; 刘建新

    2012-01-01

    This study was conducted to analyse the milk protein polymorphism by high—performance liquid chromato graph. The milk samples were taken from 102 lactating Chinese Holstein dairy cows. In casein, there were two types of as2—casein(A and B), five types of β-casein (A1, A2, B, C and F), and two types of k—casein (A/E and B). No polymorphism was found in as 1—casein. In whey, three types of β—lactoglobulin (A, B and C) were observed, while a lactalbumin only had one. From the results obtained in this study,it is suggested that except for asl-casein and α-lac talbumin, there existed polymorphism, which was rich in αs2—casein, β—casein, κ—casein and β—lactoglobulins, with the most abundant in β—casein.%采用高效液相色谱法检测牛乳中6种主要乳蛋白的多态性.奶样来自102头泌乳中国荷斯坦奶牛.研究发现,酪蛋白中αs2-酪蛋白存在A型和B型两种类型,β-酪蛋白存在A1,A2,B,C和F5种类型,κ-酪蛋白存在A/E型和B型两种类型,而αs1-酪蛋白仅有1种,未发现其多态性;乳清蛋白中,β-乳球蛋白存在多态性,有A,B和C3种类型,但未发现α-乳白蛋白的多态性.研究结果表明,在本试验条件下,中国荷斯坦奶牛乳中除αs1-酪蛋白和α-乳白蛋白外,αs2-酪蛋白、β-酪蛋白、κ-酪蛋白以及β-乳球蛋白均存在多态性,以β-酪蛋白类型最多.

  9. Mathematical analysis of the Photovoltage Decay (PVD) method for minority carrier lifetime measurements

    Science.gov (United States)

    Vonroos, O. H.

    1982-01-01

    When the diffusion length of minority carriers becomes comparable with or larger than the thickness of a p-n junction solar cell, the characteristic decay of the photon-generated voltage results from a mixture of contributions with different time constants. The minority carrier recombination lifetime tau and the time constant l(2)/D, where l is essentially the thickness of the cell and D the minority carrier diffusion length, determine the signal as a function of time. It is shown that for ordinary solar cells (n(+)-p junctions), particularly when the diffusion length L of the minority carriers is larger than the cell thickness l, the excess carrier density decays according to exp (-t/tau-pi(2)Dt/4l(2)), tau being the lifetime. Therefore, tau can be readily determined by the photovoltage decay method once D and L are known.

  10. Two carrier temperatures non-equilibrium generalized Planck law for semiconductors

    Science.gov (United States)

    Gibelli, François; Lombez, Laurent; Guillemoles, Jean-François

    2016-10-01

    Planck's law of radiation describes the light emitted by a blackbody. This law has been generalized in the past for the case of a non-blackbody material having a quasi Fermi-level splitting: the lattice of the material and the carriers are then considered in an isothermal regime. Hot carrier spectroscopy deals with carriers out of the isothermal regime, as their respective temperatures (THe ≠ THh) are considered to be different than that of the lattice (TL). Here we show that Fermi-Dirac distribution temperature for each type of carrier still determine an effective radiation temperature: an explicit relationship is given involving the effective masses. Moreover, we show how to determine, in principle with an additional approximation, the carrier temperatures (THe, THh) and the corresponding absolute electrochemical potentials from photoluminescence measurements.

  11. Improved charge carrier lifetime in planar perovskite solar cells by bromine doping

    Science.gov (United States)

    Kiermasch, David; Rieder, Philipp; Tvingstedt, Kristofer; Baumann, Andreas; Dyakonov, Vladimir

    2016-12-01

    The charge carrier lifetime is an important parameter in solar cells as it defines, together with the mobility, the diffusion length of the charge carriers, thus directly determining the optimal active layer thickness of a device. Herein, we report on charge carrier lifetime values in bromine doped planar methylammonium lead iodide (MAPbI3) solar cells determined by transient photovoltage. The corresponding charge carrier density has been derived from charge carrier extraction. We found increased lifetime values in solar cells incorporating bromine compared to pure MAPbI3 by a factor of ~2.75 at an illumination intensity corresponding to 1 sun. In the bromine containing solar cells we additionally observe an anomalously high value of extracted charge, which we deduce to originate from mobile ions.

  12. Silicon ball grid array chip carrier

    Science.gov (United States)

    Palmer, David W.; Gassman, Richard A.; Chu, Dahwey

    2000-01-01

    A ball-grid-array integrated circuit (IC) chip carrier formed from a silicon substrate is disclosed. The silicon ball-grid-array chip carrier is of particular use with ICs having peripheral bond pads which can be reconfigured to a ball-grid-array. The use of a semiconductor substrate such as silicon for forming the ball-grid-array chip carrier allows the chip carrier to be fabricated on an IC process line with, at least in part, standard IC processes. Additionally, the silicon chip carrier can include components such as transistors, resistors, capacitors, inductors and sensors to form a "smart" chip carrier which can provide added functionality and testability to one or more ICs mounted on the chip carrier. Types of functionality that can be provided on the "smart" chip carrier include boundary-scan cells, built-in test structures, signal conditioning circuitry, power conditioning circuitry, and a reconfiguration capability. The "smart" chip carrier can also be used to form specialized or application-specific ICs (ASICs) from conventional ICs. Types of sensors that can be included on the silicon ball-grid-array chip carrier include temperature sensors, pressure sensors, stress sensors, inertia or acceleration sensors, and/or chemical sensors. These sensors can be fabricated by IC processes and can include microelectromechanical (MEM) devices.

  13. Relationship Between LAPTM4B Gene Polymorphism and Susceptibility of Malignant Melanoma in Chinese Patients

    Directory of Open Access Journals (Sweden)

    Meng Zhang

    2014-10-01

    Full Text Available Lysosomal-associated protein transmembrane 4 beta (LAPTM4B is known as an oncogene associated with many human malignant tumors. There are two alleles of the gene, LAPTM4B*1 and LAPTM4B*2. Previous studies have shown that LAPTM4B polymorphism contributes to the risk of many cancers. This case-control study was to investigate the relationship between LAPTM4B gene polymorphism and susceptibility of malignant melanoma. The genotypes of LAPTM4B were determined in 617 control subjects and 220 patients with malignant melanoma by utilizing polymerase chain reaction based on specific primers. The genotypic distribution of LAPTM4B and Hardy–Weinberg equilibrium were analyzed by χ2 test. Odds ratio and 95% confidence interval was calculated by unconditional logistic regression. The distributions of LAPTM4B genotypes were significantly different between melanoma patients (45.9% for *1/1, 46.4% for *1/2 and 7.7 for *2/2 and controls (54.5% for *1/1, 39.9% for *1/2 and 5.7 for *2/2. LAPTM4B *1/2 and LAPTM4B *2/2 had a 1.396-fold and 1.619-fold higher risk for melanoma occurrence than *1/1, and subjects with LAPTM4B*2 have a 1.308-fold higher risk than LAPTM4B*1 carriers. No association between LAPTM4B genotypes and gender, age, subtype, Clark level of invasion, Breslow thickness, ulceration, clinical stage, and C-KIT, BRAF gene mutation status was observed. LAPTM4B*2 is associated with the high risk of malignant melanoma and carrying LAPTM4B *2 may be a susceptible factor to Chinese melanoma patients.

  14. Lack of Arg972 polymorphism in the IRS1 gene in Parakanã Brazilian Indians.

    Science.gov (United States)

    Bezerra, Rosângela M N; Chadid, Thiago T; Altemani, Claúdia M; Sales, Teresa S I; Menezes, Raimundo; Soares, Manoel C P; Saad, Sara T O; Saad, Mario J A

    2004-02-01

    Several polymorphisms in the insulin receptor substrate-1 (IRS1) gene have been reported in the last years. The most common IRS1 variant, a Gly --> Arg substitution at codon 972 (Arg972 IRS1), is more prevalent among subjects who have features of insulin resistance syndrome associated, or not, with type 2 diabetes in European populations. To determine whether the absence of IRS1 polymorphism is a more general characteristic of Paleo-Indian-derived populations, we examined the Arg972 IRS1 polymorphism in Parakanã Indians and found a lack of this polymorphism in the Parakanã population.

  15. Polymorphism of gonadotropin action: clinical implications

    Institute of Scientific and Technical Information of China (English)

    IlpoT.Huhtaniemi

    2000-01-01

    It has recently became apparent that the structural heterogeneity of gonadotropin molecules can contribute to variations of their action in different physiological and pathophysiological conditions. One reason for the structural variations of circulating gonadotropin molecules is the rnicroheterogeneity caused by the variability of glycosylation of individual gonadotropin molecules. The carbohydrate moieties of gonadotropins are important for their intrinsic bioactivity, as reflected by measurement of their bioactivity to immunoreactivity (B/I) ratios. We have reassessed this phenomenon by improved in vitro bioassay and immunoassay methods, and it appears that the intrinsic bioactivity of gonadotropins, in particular of LH, is more constant than previously assumed. Many of the previously documented differences, some even considered diagnostic for certain clinical conditions, have turned out to be methodological artifacts. The first part of this review summarizes our recent findings on the B/I ratios of LH, with special reference to the male. The second part of this review describes a common polymorphism that was recently discovered in the gene of the LH β-subtmit. The variant LHβ allele contains two point mutations, which introduce to LH two amino acid changes and an extra glycosylation site. The LH variant is common world-wide, with carrier frequency varying from 0 to 52% in various ethnic groups. The LH variant differs functionally from wild-type LH, and it seems to predispose its carriers,both men and women, to mild aberrations of reproductive function. It is important for the clinician to be aware of this variant LH form, not detected by all immunoassays, because it may explain some aberrant results of LH measurements in patient samples. (Asian J Androl 2000 Dec;2:241-246)

  16. Folylpolyglutamate synthase is a major determinant of intracellular methotrexate polyglutamates in patients with rheumatoid arthritis

    Science.gov (United States)

    Yamamoto, Tatsuhiro; Shikano, Kotaro; Nanki, Toshihiro; Kawai, Shinichi

    2016-01-01

    We investigated major determinants of the intracellular concentrations of methotrexate polyglutamates (MTXPGs) in patients with rheumatoid arthritis (RA). In 271 RA patients on stable oral low dose weekly pulse MTX therapy, the concentrations of MTXPGs in red blood cells (RBCs) were measured by liquid chromatography-electrospray ionization-tandem mass spectrometry. Polymerase chain reaction-restriction fragment length polymorphism analysis was performed to determine the genotypes of solute carrier family 19 member 1 (SLC19A1), folylpolyglutamate synthase (FPGS), and gamma-glutamyl hydrolase (GGH). The mean total MTXPG concentration and the concentrations of individual MTXPGs increased dose-dependently, but reached a plateau at MTX doses >10 mg weekly. The MTXPG3-5/1-2 ratio was lower in patients with adverse events related to MTX than in patients without adverse events. Three polymorphisms of FPGS significantly influenced the MTXPG3-5/1-2 ratio in RBCs, while polymorphisms of SLC19A1 and GGH had no impact. The minor allele frequencies of 2 FPGS genotypes were significantly increased in our patients compared with a Caucasian population. FPGS may have a major role in regulating intracellular polyglutamation of MTX in RA patients receiving low-dose weekly MTX therapy. PMID:27752107

  17. Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

    DEFF Research Database (Denmark)

    Cox, David G; Simard, Jacques; Sinnett, Daniel

    2011-01-01

    carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence...

  18. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    NARCIS (Netherlands)

    Osorio, Ana; Milne, Roger L.; Kuchenbaecker, Karoline; Vaclova, Tereza; Pita, Guillermo; Alonso, Rosario; Peterlongo, Paolo; Blanco, Ignacio; de la Hoya, Miguel; Duran, Mercedes; Diez, Orland; Ramon y Cajal, Teresa; Konstantopoulou, Irene; Martinez-Bouzas, Cristina; Conejero, Raquel Andres; Soucy, Penny; McGuffog, Lesley; Barrowdale, Daniel; Lee, Andrew; Arver, Brita; Rantala, Johanna; Loman, Niklas; Ehrencrona, Hans; Olopade, Olufunmilayo I.; Beattie, Mary S.; Domchek, Susan M.; Nathanson, Katherine; Rebbeck, Timothy R.; Arun, Banu K.; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; John, Esther M.; Whittemore, Alice S.; Daly, Mary B.; Southey, Melissa; Hopper, John; Terry, Mary B.; Buys, Saundra S.; Janavicius, Ramunas; Dorfling, Cecilia M.; van Rensburg, Elizabeth J.; Steele, Linda; Neuhausen, Susan L.; Ding, Yuan Chun; Hansen, Thomas V. O.; Jonson, Lars; Ejlertsen, Bent; Gerdes, Anne-Marie; Infante, Mar; Herraez, Belen; Moreno, Leticia Thais; Weitzel, Jeffrey N.; Herzog, Josef; Weeman, Kisa; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Scuvera, Giulietta; Bonanni, Bernardo; Mariette, Frederique; Volorio, Sara; Viel, Alessandra; Varesco, Liliana; Papi, Laura; Ottini, Laura; Tibiletti, Maria Grazia; Radice, Paolo; Yannoukakos, Drakoulis; Garber, Judy; Ellis, Steve; Frost, Debra; Platte, Radka; Fineberg, Elena; Evans, Gareth; Lalloo, Fiona; Izatt, Louise; Eeles, Ros; Adlard, Julian; Davidson, Rosemarie; Cole, Trevor; Eccles, Diana; Cook, Jackie; Hodgson, Shirley; Brewer, Carole; Tischkowitz, Marc; Douglas, Fiona; Porteous, Mary; Side, Lucy; Walker, Lisa; Morrison, Patrick; Donaldson, Alan; Kennedy, John; Foo, Claire; Godwin, Andrew K.; Schmutzler, Rita Katharina; Wappenschmidt, Barbara; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hans Joerg; Niederacher, Dieter; Sutter, Christian; Wang-Gohrke, Shan; Steinemann, Doris; Preisler-Adams, Sabine; Kast, Karin; Varon-Mateeva, Raymonda; Gehrig, Andrea; Stoppa-Lyonnet, Dominique; Sinilnikova, Olga M.; Mazoyer, Sylvie; Damiola, Francesca; Poppe, Bruce; Claes, Kathleen; Piedmonte, Marion; Tucker, Kathy; Backes, Floor; Rodriguez, Gustavo; Brewster, Wendy; Wakeley, Katie; Rutherford, Thomas; Caldes, Trinidad; Nevanlinna, Heli; Aittomaki, Kristiina; Rookus, Matti A.; van Os, Theo A. M.; van der Kolk, Lizet; de Lange, J. L.; Meijers-Heijboer, Hanne E. J.; van der Hout, A. H.; van Asperen, Christi J.; Gomez Garcia, Encarna B.; Hoogerbrugge, Nicoline; Collee, J. Margriet; van Deurzen, Carolien H. M.; van der Luijt, Rob B.; Devilee, Peter; Olah, Edith; Lazaro, Conxi; Teule, Alex; Menendez, Mireia; Jakubowska, Anna; Cybulski, Cezary; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Johannsson, Oskar Th; Maugard, Christine; Montagna, Marco; Tognazzo, Silvia; Teixeira, Manuel R.; Healey, Sue; Olswold, Curtis; Guidugli, Lucia; Lindor, Noralane; Slager, Susan; Szabo, Csilla I.; Vijai, Joseph; Robson, Mark; Kauff, Noah; Zhang, Liying; Rau-Murthy, Rohini; Fink-Retter, Anneliese; Singer, Christian F.; Rappaport, Christine; Kaulich, Daphne Geschwantler; Pfeiler, Georg; Tea, Muy-Kheng; Berger, Andreas; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Lejbkowicz, Flavio; Andrulis, Irene; Mulligan, Anna Marie; Glendon, Gord; Toland, Amanda Ewart; Bojesen, Anders; Pedersen, Inge Sokilde; Sunde, Lone; Thomassen, Mads; Kruse, Torben A.; Jensen, Uffe Birk; Friedman, Eitan; Laitman, Yael; Shimon, Shani Paluch; Simard, Jacques; Easton, Douglas F.; Offit, Kenneth; Couch, Fergus J.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Benitez, Javier

    2014-01-01

    Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the c

  19. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

    NARCIS (Netherlands)

    Wang, Xianshu; Pankratz, V. Shane; Fredericksen, Zachary; Tarrell, Robert; Karaus, Mary; McGuffog, Lesley; Pharaoh, Paul D. P.; Ponder, Bruce A. J.; Dunning, Alison M.; Peock, Susan; Cook, Margaret; Oliver, Clare; Frost, Debra; Sinilnikova, Olga M.; Stoppa-Lyonnet, Dominique; Mazoyer, Sylvie; Houdayer, Claude; Hogervorst, Frans B. L.; Hooning, Maartje J.; Ligtenberg, Marjolijn J.; Spurdle, Amanda; Chenevix-Trench, Georgia; Schmutzler, Rita K.; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Singer, Christian F.; Gschwantler-Kaulich, Daphne; Dressler, Catherina; Fink, Anneliese; Szabo, Csilla I.; Zikan, Michal; Foretova, Lenka; Claes, Kathleen; Thomas, Gilles; Hoover, Robert N.; Hunter, David J.; Chanock, Stephen J.; Easton, Douglas F.; Antoniou, Antonis C.; Couch, Fergus J.

    2010-01-01

    Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additio

  20. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

    NARCIS (Netherlands)

    Wang, X.; Pankratz, V.S.; Fredericksen, Z.; Tarrell, R.; Karaus, M.; McGuffog, L.; Pharaoh, P.D.; Ponder, B.A.J.; Dunning, A.M.; Peock, S.; Cook, M.; Oliver, C.; Frost, D.; Sinilnikova, O.M.; Stoppa-Lyonnet, D.; Mazoyer, S.; Houdayer, C.; Hogervorst, F.B.L.; Hooning, M.J.; Ligtenberg, M.J.L.; Spurdle, A.; Chenevix-Trench, G.; Schmutzler, R.K.; Wappenschmidt, B.; Engel, C.; Meindl, A.; Domchek, S.M.; Nathanson, K.L.; Rebbeck, T.R.; Singer, C.F.; Gschwantler-Kaulich, D.; Dressler, C.; Fink, A.; Szabo, C.I.; Zikan, M.; Foretova, L.; Claes, K.; Thomas, G.; Hoover, R.N.; Hunter, D.J.; Chanock, S.J.; Easton, D.F.; Antoniou, A.C.; Couch, F.J.

    2010-01-01

    Recent studies have identified single nucleotide polymorphisms (SNPs) that significantly modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Since these risk modifiers were originally identified as genetic risk factors for breast cancer in genome-wide association studies (GWASs), additio

  1. DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Osorio, Ana; Milne, Roger L; Kuchenbaecker, Karoline

    2014-01-01

    Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of th...

  2. BDNF Val66Met polymorphism, energy intake and BMI: a follow-up study in schoolchildren at risk of eating disorders

    Directory of Open Access Journals (Sweden)

    Aranda Nuria

    2010-06-01

    Full Text Available Abstract Background Eating disorders (ED have a multifactorial aetiology in which genetics play an important role. Several studies have found an association between the Val66Met (G196A polymorphism of the Brain-Derived Neurotrophic Factor (BDNF and Eating disorders. The aim of this study was to determine the association of the Val66Met (G196A polymorphism of the BDNF gene and its effect on eating disorders (ED, energy intake and BMI in schoolchildren. Methods Two-year cohort study (preadolescence to adolescence. From an initial sample of 1336 Caucasian children (mean age = 11.37 years, a group at risk of ED (n = 141 and a control group (n = 117 were selected using the Children's Eating Attitudes Test. Two years later, they were re-classified into an at-risk group (n = 41 and a control group (n = 159 using the Eating Attitudes Test. The diagnosis of the individuals at risk of ED was confirmed by means of the Diagnostic Interview for Children and Adolescents. BMI, energy intake and the Val66Met (G196A polymorphism of the BDNF gene were analysed in the at-risk and control groups. Results The frequency of genotypes of the Val66Met (G196A polymorphism of the BDNF gene is 28.6% (95% CI: 22.4-34.9 in the heterozygous form (Val/Met and 5% (95% CI: 2.4-9 in the homozygous form (Met/Met. We detected no association between Val66Met genotypes and the severity of ED. Over time, the carriers of the Met66 allele with a persistent risk of ED significantly restricted energy intake (507 Kcal/day; p = 0.033. Conclusion We have not found an association between Val66Met (G196A polymorphism of the BDNF and ED in schoolchildren from general population. The relationship found between this polymorphism and energy intake restriction in adolescents with a persistent risk of ED should be replicated in a larger sample.

  3. Allelic polymorphism of glucocorticoid receptor NR3C1 (GR: from molecular biology to clinical implications

    Directory of Open Access Journals (Sweden)

    Orlovsky M. A.

    2012-09-01

    Full Text Available Polymorphism of stress-related genes is a key factor determining difference in the stress reactivity and resistance among humans. Glucocorticoid receptors are important actors of stress responses. This review is focused on the molecular biology and clinical implications of glucocorticoid receptor gene polymorphism.

  4. Polymorphisms of the LEP- and LEPR Gene and Obesity in Patients Using Antipsychotic Medication

    NARCIS (Netherlands)

    Gregoor, Jochem G.; van der Weide, Jan; Mulder, Hans; Cohen, Dan; van Megen, Harold J. G. M.; Egberts, Antoine C. G.; Heerdink, Eibert R.

    2009-01-01

    Weight gain is one of the most serious adverse effects of atypical antipsychotic agents. Genetic factors influence the risk of an individual to gain weight. The objective of our study was to determine whether the LEPR Q223R polymorphism and the LEP promoter 2548G/ A polymorphism are associated with

  5. Gene polymorphisms of intracerebral hemorrhage in Chinese population: a systematic review

    Institute of Scientific and Technical Information of China (English)

    谭贤佩

    2014-01-01

    Objective To assess the genes polymorphisms associated with intracerebral hemorrhage(ICH)in Chinese quantitatively or qualitatively by searching all case control studies related comprehensively.Methods Odds ratio(OR)and 95%confidence intervals(95%CI)were determined for each polymorphism using fixed or random model with Revman 5.1.Results Statistically significant associations with ICH were

  6. Effect of Taekwondo Training on Physical Fitness and Growth Index According to IGF-1 Gene Polymorphism in Children.

    Science.gov (United States)

    Lee, Bonghan; Kim, Kijin

    2015-07-01

    This study analyzed the effect of regular Taekwondo training for 16 weeks on physical fitness and growth index depending on different IGF-1 gene polymorphisms. The subjects of the study were 44 male students who were 8 year years old. The IGF-1 gene showed the highest frequency of 18 CA repeat (190 bp) in 50% of subjects, and was found in the homozygote (n=11), heterozygote (n=22) and non-carriers (n=11). The results of the physical fitness and growth index among the gene polymorphism groups indicated no significant differences but the expected height of the non-carrier group was significantly high (pTaekwondo training, the homozygote group and the non-carrier groups demonstrated significant (pTaekwondo training did not show consistent impact.

  7. Effect of ABCA1-V771M polymorphism on plasma lipid levels and its relationship with coronary atherosclerotic heart disease

    Institute of Scientific and Technical Information of China (English)

    Wang Dongqi; Li Hongbing; Zhang Tao; Cui Hanbin; Shu Juan; Yang Haitao; Cui Changcong; Joseph B. Muhlestein

    2008-01-01

    Objective To explore the risk association of ABCA1-V771M polymorphism with coronary heart disease (CHD) in Hart nationality in Northwest of China. Methods With case-control study, ABCA1-V771M polymorphism was detected in 204 unrelated Hart nationality people in Northwest of China, and all the subjects by coronary angiography were grouped into 106 cases and 98 controls. The genotypes and alleles frequency distribution of ABCA1-V771M polymorphisms were analyzed by PCR-RFLP analysis, and the clinical statistics of serum lipids were compared and its effects of ABCA1-V771M polymorphism on the plasma lipid levels and coronary atherosclerotic heart disease were analyzed. Results The genotypic frequencies of ABCA1-V771M polymorphism matched well under Hardy-Weinberg equilibrium (P>0.05), V and M allelic frequencies were 33.3% and 66.7%. In comparison with VV+VM genotype carriers, MM genotypes carriers had much lower plasma levels of HDL-C (P0.05). Conclusion ABCA1-V771M polymorphism was not only associated with the plasma levels of HDL-C and TG, but also related to the susceptibility and severity of coronary atheroselerotic heart disease. Moreover, M771 allele appeared to be atherogenie among Han population in Northwest of China.

  8. Genetic contributions to age-related decline in executive function: a 10-year longitudinal study of COMT and BDNF polymorphisms

    Directory of Open Access Journals (Sweden)

    Kirk I Erickson

    2008-09-01

    Full Text Available Genetic variability in the dopaminergic and neurotrophic systems could contribute to age-related impairments in executive control and memory function. In this study we examined whether genetic polymorphisms for catechol-O-methyltransferase (COMT and brain-derived neurotrophic factor (BDNF were related to the trajectory of cognitive decline occurring over a 10-year period in older adults. A single-nucleotide polymorphism (SNP in the COMT (Val158/108Met gene affects the concentration of dopamine in the prefrontal cortex. In addition, a Val/Met substitution in the pro-domain for BDNF (Val66Met affects the regulated secretion and trafficking of BDNF with Met carriers showing reduced secretion and poorer cognitive function. We found that impairments over the 10-year span on a task-switching paradigm did not vary as a function of the COMT polymorphism. However, for the BDNF polymorphism the Met carriers performed worse than Val homozygotes at the first testing session but only the Val homozygotes demonstrated a significant reduction in performance over the 10-year span. Our results argue that the COMT polymorphism does not affect the trajectory of age-related executive control decline, whereas the Val/Val polymorphism for BDNF may promote faster rates of cognitive decay in old age. These results are discussed in relation to the role of BDNF in senescence and the transforming impact of the Met allele on cognitive function in old age.

  9. Factor VII Activating Protease Polymorphism (G534E) Is Associated with Increased Risk for Stroke and Mortality.

    Science.gov (United States)

    Trompet, Stella; Pons, Douwe; Kanse, Sandip M; de Craen, Anton J M; Ikram, M Arfan; Verschuren, Jeffrey J W; Zwinderman, Aeilko H; Doevendans, Pieter A F M; Tio, René A; de Winter, Robbert J; Slagboom, P Eline; Westendorp, Rudi G J; Jukema, J Wouter

    2011-01-01

    Introduction. The FSAP-Marburg I polymorphism (1704G > A), which reduces FSAP activity, is associated with late complications of carotid stenosis in humans. Therefore, this study examines the influence of the Marburg I polymorphism and the closely linked Marburg II polymorphism (1280G > C) on various cardiovascular outcomes in two large independent study populations. Methods. The two Marburg polymorphisms in the HABP2 gene encoding FSAP were genotyped in a large population of elderly patients at risk for vascular disease (the PROSPER-study, n = 5804) and in a study population treated with a percutaneous coronary intervention (the GENDER-study, n = 3104). Results. In the PROSPER study, the Marburg I polymorphism was associated with an increased risk of clinical stroke (HR: 1.60, 95% CI: 1.13-2.28) and all-cause mortality (HR: 1.33, 95% CI: 1.04-1.71). In the GENDER study carriers of this variant seemed at lower risk of developing restenosis (HR: 0.59, 95% CI: 0.34-1.01). The Marburg II polymorphism showed similar but weaker results. Conclusion. The increase in stroke risk in Marburg I carriers could be due to differential effects on smooth muscle cells and on matrix metalloproteinases, thereby influencing plaque stability. The possible protective effect on restenosis could be the result of reduced activation of zymogens, which are involved in hemostasis and matrix remodeling.

  10. Factor VII Activating Protease Polymorphism (G534E Is Associated with Increased Risk for Stroke and Mortality

    Directory of Open Access Journals (Sweden)

    Stella Trompet

    2011-01-01

    Full Text Available Introduction. The FSAP-Marburg I polymorphism (1704G > A, which reduces FSAP activity, is associated with late complications of carotid stenosis in humans. Therefore, this study examines the influence of the Marburg I polymorphism and the closely linked Marburg II polymorphism (1280G > C on various cardiovascular outcomes in two large independent study populations. Methods. The two Marburg polymorphisms in the HABP2 gene encoding FSAP were genotyped in a large population of elderly patients at risk for vascular disease (the PROSPER-study, n=5804 and in a study population treated with a percutaneous coronary intervention (the GENDER-study, n=3104. Results. In the PROSPER study, the Marburg I polymorphism was associated with an increased risk of clinical stroke (HR: 1.60, 95% CI: 1.13–2.28 and all-cause mortality (HR: 1.33, 95% CI: 1.04–1.71. In the GENDER study carriers of this variant seemed at lower risk of developing restenosis (HR: 0.59, 95% CI: 0.34–1.01. The Marburg II polymorphism showed similar but weaker results. Conclusion. The increase in stroke risk in Marburg I carriers could be due to differential effects on smooth muscle cells and on matrix metalloproteinases, thereby influencing plaque stability. The possible protective effect on restenosis could be the result of reduced activation of zymogens, which are involved in hemostasis and matrix remodeling.

  11. Delta-aminolevulinic acid dehydratase (ALAD) polymorphism in lead exposed Bangladeshi children and its effect on urinary aminolevulinic acid (ALA)

    Energy Technology Data Exchange (ETDEWEB)

    Tasmin, Saira, E-mail: rimzim1612@yahoo.com [Department of Human Ecology, School of International Health, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan); Furusawa, Hana [Department of Human Ecology, School of International Health, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan); Ahmad, Sk. Akhtar [Department of Occupational and Environmental Health, Bangladesh Institute of Health Sciences, 125/1, Darus Salam, Mirpur, Dhaka 1216 (Bangladesh); Faruquee, M.H. [Department of Public Health, State University of Bangladesh, 77 Satmasjid Road, Dhanmondi, Dhaka 1205 (Bangladesh); Watanabe, Chiho [Department of Human Ecology, School of International Health, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan)

    2015-01-15

    Background and objective: Lead has long been recognized as a harmful environmental pollutant. People in developing countries like Bangladesh still have a higher risk of lead exposure. Previous research has suggested that the delta-aminolevulinic acid dehydratase (ALAD) genotype can modify lead toxicity and individual susceptibility. As children are more susceptible to lead-induced toxicity, this study investigated whether the ALAD genotype influenced urinary excretion of delta-aminolevulinic acid (U-ALA) among children exposed to environmental lead in Bangladesh. Methods: Subjects were elementary schoolchildren from a semi-urban industrialized area in Bangladesh. A total of 222 children were studied. Blood and urine were collected to determine ALAD genotypes, blood lead levels and urinary aminolevulinic acid (U-ALA). Results: The mean BPb level was 9.7 µg/dl for the study children. BPb was significantly positively correlated with hemoglobin (p<0.01). In total, allele frequency for ALAD 1 and 2 was 0.83 and 0.17 respectively. The mean U-ALA concentration was lower in ALAD1-2/2-2 carriers than ALAD1-1 carriers for boys (p=0.001). But for girls, U-ALA did not differ significantly by genotype (p=0.26). When U-ALA was compared by genotype at the same exposure level in a multiple linear regression analysis, boys who were ALAD1-2/2-2 carriers still had a lower level of U-ALA compared to ALAD1-1carriers. Conclusion: This study provides information about the influence of ALAD polymorphism and its association with U-ALA in Bangladeshi children. Our results indicate that the ALAD1-2/2-2 genotype may have a protective effect in terms of U-ALA for environmentally lead exposed boys. - Highlights: • High blood lead level for the environmentally exposed schoolchildren. • BPb was significantly correlated with U-ALA and Hb. • Effect of ALAD genotype on U-ALA is differed by sex. • Lower U-ALA in ALAD2 than ALAD1 carriers only for boys at same exposure.

  12. Impact of carriers in oral absorption

    DEFF Research Database (Denmark)

    Gram, Luise Kvisgaard; Rist, Gerda Marie; Lennernäs, Hans

    2009-01-01

    (APP) was not described by carrier kinetics. However, glipizide is affecting exsorption for ES, due to interactions on basolateral carrier. The study confirms that estrone-3-sulfate can be used to characterize anionic carrier kinetics. Furthermore it is suggested that estrone-3-sulfate may be used to identify compounds......Carriers may mediate the permeation across enterocytes for drug substances being organic anions. Carrier mediated permeation for the organic anions estrone-3-sulfate (ES) and glipizide across Caco-2 cells were investigated kinetically, and interactions on involved carriers evaluated. Initial...... uptakes (P(UP)) at apical and basolateral membranes, apparent permeabilities (P(APP)) and corresponding intracellular end-point accumulations (P(EPA)) of radioactive labeled compounds were studied. Possible effects of other anionic compounds were investigated. Apical P(UP) and absorptive P(APP) for ES...

  13. Carriers of the astronomical 2175 ? extinction feature

    Energy Technology Data Exchange (ETDEWEB)

    Bradley, J; Dai, Z; Ernie, R; Browning, N; Graham, G; Weber, P; Smith, J; Hutcheon, I; Ishii, H; Bajt, S; Floss, C; Stadermann, F

    2004-07-20

    The 2175 {angstrom} extinction feature is by far the strongest spectral signature of interstellar dust observed by astronomers. Forty years after its discovery the origin of the feature and the nature of the carrier remain controversial. The feature is enigmatic because although its central wavelength is almost invariant its bandwidth varies strongly from one sightline to another, suggesting multiple carriers or a single carrier with variable properties. Using a monochromated transmission electron microscope and valence electron energy-loss spectroscopy we have detected a 5.7 eV (2175 {angstrom}) feature in submicrometer-sized interstellar grains within interplanetary dust particles (IDPs) collected in the stratosphere. The carriers are organic carbon and amorphous silicates that are abundant and closely associated with one another both in IDPs and in the interstellar medium. Multiple carriers rather than a single carrier may explain the invariant central wavelength and variable bandwidth of the astronomical 2175 {angstrom} feature.

  14. Association between CAG repeat polymorphisms and the risk of prostate cancer: a meta-analysis by race, study design and the number of (CAG)n repeat polymorphisms.

    Science.gov (United States)

    Sun, Jun-Hyun; Lee, Sang-Ah

    2013-11-01

    Although a number of studies have been conducted on the association between prostate cancer and CAG repeat polymorphisms of the androgen receptor gene, this association remains elusive and controversial. In this meta-analysis, we aimed to evaluate the effects of (CAG)n repeat genetic polymorphisms on the incidence of prostate cancer, particularly as regards race, study design and the number of (CAG)n repeats. To collect articles published on the association between CAG repeats and prostate cancer, publications were identified from the National Center for Biotechnology Information (NCBI) database of epidemiological studies published up to October 2011; our identification of publications was not limited by a language barrier. The following search keywords were used: prostate cancer risk, CAG repeat polymorphism, androgen receptor gene and human. Stata version 10 was used for the meta-analysis and the publication bias was measured through the Begg's test and Egger's test. This meta-analysis included 47 studies with 13,346 cases and 15,172 control or non-cases and consisted of 31 reports based on Caucasians, ten on Asians, one on Hispanics and four on combined ethnic groups. The carriers of a shorter CAG repeat sequence had an increased risk of prostate cancer (OR 1.21, 95% CI 1.10-1.34 for all subjects; OR 1.21, 95% CI 1.10-1.34 for prospective studies; OR 1.32, 95% CI 1.15-1.51 for retrospective studies) regardless of the exact length of the CAG repeat, compared with carriers of a longer repeat sequence. In terms of race, the risk of carrying a shorter CAG repeat sequence was 1.10- and 1.83-fold higher than that of a longer repeat sequence in Caucasians and Asians, respectively. For the specific number of CAG repeat polymorphisms, carriers of repeats were observed to have a higher risk of prostate cancer (OR 1.16, 95% CI 1.04-1.29) compared with carriers with ≥ 22 CAG repeat polymorphisms, particularly for Asians (OR 2.06, 95% CI 1.00-4.24). This meta

  15. Apolipoprotein E epsilon-4 polymorphism is associated with younger age at referral to a lipidology clinic and a poorer response to lipid-lowering therapy

    Directory of Open Access Journals (Sweden)

    Monteiro Pedro

    2011-03-01

    Full Text Available Abstract Background The risk of coronary heart disease (CHD is related to environmental factors and genetic variants. Apolipoprotein E (apoE polymorphisms are heritable determinants of total and low-density lipoprotein cholesterol, with some authors suggesting an association between the ε4 allele and CHD. We investigated the relationship between apoE genotype and age at referral to a specialized lipid clinic by the primary care physician and whether the benefits of treatment with statin differed between genotypes. Methods We assessed individual apoE genotypes and lipid blood profile in a total of 463 patients followed at a specialized lipid clinic due to dyslipidemia, with a 3-year median follow-up time. The primary care physician at the time of the referral had no access to the apoE genotyping results. Carriers of apoE ε4/ε2 genotype were excluded. Results The frequencies of ε2, ε3 and ε4 alleles were 7.8, 78.9 and 13.3%, respectively. There were no significant differences between genders. Although with similar lipid profiles and antidyslipidemic drug usage at baseline, ε4-carriers were referred to the clinic at a younger age (44.2 ± 14.7 years compared with non-ε4 carriers (50.6 ± 13.8 years (p Conclusion Our findings support the concept that there is a reduced response to anti-dyslipidemic treatment in ε4 carriers; this can be a contributing factor for the earlier referral of these patients to our specialized lipid clinic and reinforces the usefulness of apoE genotyping in predicting patients response to lipid lowering therapies.

  16. New Dimensions of Moving Bed Biofilm Carriers

    OpenAIRE

    Piculell, Maria

    2016-01-01

    The moving bed biofilm reactor (MBBR) is a biological wastewater treatment process in which microorganisms grow as biofilms on suspended carriers. Conventionally, MBBRs are mainly designed and optimized based on the carrier surface area, neglecting the dynamic relationship between carrier design, reactor operation and biofilm characteristics, such as biofilm thickness and the composition of the microbial community. The purpose of this research project was to learn more about the roles of the ...

  17. Raman detected differential scanning calorimetry of polymorphic transformations in acetaminophen.

    Science.gov (United States)

    Kauffman, John F; Batykefer, Linda M; Tuschel, David D

    2008-12-15

    Acetaminophen is known to crystallize in three polymorphic forms. Thermally induced transformations between the crystalline forms and the super-cooled liquid have been observed by differential scanning calorimetry (DSC), but the assignment of calorimetric transitions to specific polymorphic transformations remains challenging, because the transition temperatures for several transformations are close to one another, and the characteristics of the observed transitions depend on experimental variables that are often poorly controlled. This paper demonstrates the simultaneous application of DSC and Raman microscopy for the observation of thermally driven transitions between polymorphs of pharmaceutical materials. Raman detected differential scanning calorimetry (RD-DSC) has been used to monitor the DSC thermograms of super-cooled liquid acetaminophen and confirms the assignment of two exothermic transitions to specific polymorphic transformations. Principal component analysis of the Raman spectra have been used to determine the number of independent components that participate in the phase transformations, and multivariate regression has been used to determine transition temperatures from the spectral data. The influence of the laser excitation source on measured DSC thermograms has also been investigated, and it has been demonstrated that a baseline shift occurs in RD-DSC when a polymorphic transformation occurs between crystalline and amorphous forms. RD-DSC has been used to examine the influence of sample aging and sample pan configuration on the observed polymorphic transformations, and both of these variables were found to influence the thermal behavior of the sample. The results demonstrate the advantage of simultaneous Raman spectroscopy and differential scanning calorimetry for the unambiguous assignment of thermally driven polymorphic transformations.

  18. Transforming growth factor-β1 gene polymorphisms associated with chronic obstructive pulmonary disease in Chinese population

    Institute of Scientific and Technical Information of China (English)

    Zhi-guang SU; Fu-qiang WEN; Yu-lin FENG; Min XIAO; Xiao-ling WU

    2005-01-01

    Aim: To determine the frequencies of polymorphism and haplotype in the transforming growth factor-beta 1 (TGF-β1) gene promoter in the Chinese population and to investigate the susceptibility of this population to chronic obstructive pulmonary disease (COPD). Methods: The target fragments of the TGF-β1 gene promoter were amplified and analyzed by polymerase chain reaction-restriction fragment length polymorphism technique in 84 COPD patients and 97 age- and sex-matched healthy controls. The test for Hardy-Weinberg equilibrium was performed using HWE program of the LINKUTIL package and statistical analysis was carried out with the SPSS statistical package. An expectation maximization algorithm was used for the pairwise linkage disequilibrium test and haplotype analysis. Results: More carriers of the -800A allele, or fewer carriers of the-509T allele, were detected in the COPD patients compared with the non-symptomatic control subjects [for the -800A allele, 29.8% vs 14.4%, respectively, χ2=6.257,degrees of freedom (df)=1, P=0.012; for the -509T allele, 27.3% vs 44.3%, respectively, χ2=5.582, df=1, P=0.018]. The prevalence of the -800A allele was significantly higher in the COPD patients than in control subjects (P=0.009), whereas the frequency of the -509T allele was significantly higher in control subjects than in the COPD patients (P=0.008). In addition, this distribution tendency for the -800Aor -509T allele was similar in heavy smokers (smoking history >20 pack years);(number ofpacks of cigarettes per day multiplied by the number of years of smoking)χ2=7.235, P=0.007, and χ2=5.636, P=0.018, respectively). The linkage disequilibrium was found between -800 G→A and -509 C→T (D>0.60, P<0.0001), and the frequency of the AC haplotype, consisting of the least common base at -800 and the most common base at -509, was significantly higher in patients with COPD than in controls (0.056 vs 0.021, P<0.05). Conclusions: The single nucleotide polymorphism

  19. Comparative hydrodynamics of bacterial polymorphism

    CERN Document Server

    Spagnolie, Saverio E

    2011-01-01

    Most bacteria swim through fluids by rotating helical flagella which can take one of twelve distinct polymorphic shapes. The most common helical waveform is the "normal" form, used during forward swimming runs. To shed light on the prevalence of the normal form in locomotion, we gather all available experimental measurements of the various polymorphic forms and compute their intrinsic hydrodynamic efficiencies. The normal helical form is found to be the most hydrodynamically efficient of the twelve polymorphic forms by a significant margin - a conclusion valid for both the peritrichous and polar flagellar families, and robust to a change in the effective flagellum diameter or length. The hydrodynamic optimality of the normal polymorph suggests that, although energetic costs of locomotion are small for bacteria, fluid mechanical forces may have played a significant role in the evolution of the flagellum.

  20. Carriers by chemical vapor deposition

    Science.gov (United States)

    Mronga, Norbert; Adel, J.; Czech, Erwin

    1990-07-01

    Printed materials are affecting people's lives in a variety of ways and to a constantly increasing extent, both in the private and in the business spheres. In particular, the predicted reduction of printed materials resulting from electronic data processing - the so-called "paperless electronic office" - has not occured, indeed quite the reverse. In recent years electrophotographic reprography has established itself successfully as a competitor to conventional printing processes. In the office a photocopier is now a part of the standard equipment. Because of BASF's traditional intensive involvement with pigments and colored printing inks its interest in new technologies in these areas is especially great. BASF has therefore been engaged in research on carriers for some years now.

  1. Study on the relationship between interleukin-10 promoter polymorphism and the chronic severe hepatitis

    Institute of Scientific and Technical Information of China (English)

    DAO JIE LIU; HUI LI; YING LIU; ZHUO LI; YAN YAN; JI MING YIN; WA HAO; JIN QIN NIU; FANG LIU; XIAN CHUN XIE

    2007-01-01

    The aim of this study is to investigate whether three mononucleotide polymorphisms at the locus -1082,-819 and -592 in the promoter region of the IL-10 gene are associated with chronic severe hepatitis. The IL-10-592 and IL-10-1082 polymorphisms were genotyped by polymerase chain reactionrestriction fragment length polymorphism analysis (PCR-RFLP) while polymerase chain reaction-sequence specific primer (PCR-SSP) assay was used to test the IL-10-819 polymorphism. The polymorphisms of IL-10-1082, -819 and -592 genes were detected in 98 patients with chronic severe hepatitis (CSH), 478 patients with chronic hepatitis B (CHB), 223 asymptomatic (chronic) HBV carriers (ASC) and 267 patients with self-restricted HBV. There was significant difference of the polymorphisms of IL-10-1082, IL-10-819 and IL-10-592 genes between CSH group and other groups. The frequency of AA genotype at IL-10 gene promoter -1082 locus in chronic severe hepatitis patients was higher than that in asymptornatic HBV carriers (x2 = 13. 314, P = 0.001), and self-restricted HBV patients (x2 = 13.545, P = 0.000) ; the frequency of CC and AC genotype at IL-10 gene promoter -592 locus in chronic severe hepatitis patients was higher than that in chronic hepatitis patients(x2 =15.970, P=0.000)(x2 =20.414, P=0.000), asymptomatic HBV carriers (x2 =21.283, P=0.000) (x2 =28.309, P =0.000) and self-restricted HBV patients(x2 = 17.047, P =0.000) (x2= 16.528, P =0.1300); the frequency of TC genotype at IL-10 gene promoter-819 locus in chronic severe hepatitis patients was higher than that in chronic hepatitis patients(x2 = 58.961, P = 0. 000),asymptomatic HBV carriers (x2 = 53. 255, P = 0. 001 ) and self-restricted HBV patients (x2 =39.616, P = 0.001). So interleukine-10 gene polymorphism was associated with the chronic severe hepatitis.

  2. Apolipoprotein E gene polymorphisms are associated with primary hyperuricemia in a Chinese population.

    Directory of Open Access Journals (Sweden)

    Jie Wu

    Full Text Available OBJECTIVE: Primary hyperuricemia, an excess of uric acid in the blood, is a major public health problem. In addition to the morbidity that is attributable to gout, hyperuricemia is also associated with metabolic syndrome, hypertension, and cardiovascular disease. This study aims to assess the genetic associations between Apolipoprotein E (APOE polymorphisms and hyperuricemia in a Chinese population. METHODS: A total of 770 subjects (356 hyperuricemic cases and 414 normouricemic controls were recruited from the Ningxia Hui Autonomous Region, China. A physical examination was performed and fasting blood was collected for biochemical tests, including determination of the levels of serum lipid, creatinine, and uric acid. Multi-ARMS PCR was applied to determine the APOE genotypes, followed by an investigation of the distribution of APOE genotypes and alleles frequencies in the controls and cases. RESULTS: The frequencies of the APOE-ε2ε3 genotype (17.70% vs. 10.39%, P = 0.003 and the APOE-ε2 allele (10.53% vs. 5.80%, P = 0.001 were significantly higher in the hyperuricemic group than in the normouricemic group. Furthermore, male cases were more likely to have the APOE-ε2ε3 genotype and APOE-ε2 allele, compared with male controls. In both Han and Hui subjects, cases were more likely to have the APOE-ε2ε3 genotype and the APOE-ε2 allele compared with controls. Furthermore, multivariate logistic regression showed that carriers of the APOE-ε2ε3 genotype (P = 0.001, OR = 2.194 and the ε2 allele (P = 0.001, OR = 2.099 were significantly more likely to experience hyperuricemia than carriers of the ε3/ε3 genotype and the ε3 allele after adjustment for sex, body mass index (BMI, diastolic blood pressure (DBP, triglyceride (TG, low density lipoprotein cholesterol (LDL-C, creatinine (Cr and fasting blood glucose (FBG. CONCLUSIONS: The APOE-ε2ε3 genotype and the APOE-ε2 allele are associated with serum uric acid levels

  3. Gender differences in association between serotonin transporter gene polymorphism and resting-state EEG activity.

    Science.gov (United States)

    Volf, N V; Belousova, L V; Knyazev, G G; Kulikov, A V

    2015-01-22

    Human brain oscillations represent important features of information processing and are highly heritable. Gender has been observed to affect association between the 5-HTTLPR (serotonin-transporter-linked polymorphic region) polymorphism and various endophenotypes. This study aimed to investigate the effects of 5-HTTLPR on the spontaneous electroencephalography (EEG) activity in healthy male and female subjects. DNA samples extracted from buccal swabs and resting EEG recorded at 60 standard leads were collected from 210 (101 men and 109 women) volunteers. Spectral EEG power estimates and cortical sources of EEG activity were investigated. It was shown that effects of 5-HTTLPR polymorphism on electrical activity of the brain vary as a function of gender. Women with the S/L genotype had greater global EEG power compared to men with the same genotype. In men, current source density was markedly different among genotype groups in only alpha 2 and alpha 3 frequency ranges: S/S allele carriers had higher current source density estimates in the left inferior parietal lobule in comparison with the L/L group. In women, genotype difference in global power asymmetry was found in the central-temporal region. Contrasting L/L and S/L genotype carriers also yielded significant effects in the right hemisphere inferior parietal lobule and the right postcentral gyrus with L/L genotype carriers showing lower current source density estimates than S/L genotype carriers in all but gamma bands. So, in women, the effects of 5-HTTLPR polymorphism were associated with modulation of the EEG activity in a wide range of EEG frequencies. The significance of the results lies in the demonstration of gene by sex interaction with resting EEG that has implications for understanding sex-related differences in affective states, emotion and cognition.

  4. Polymorphisms of ICAM-1 are associated with gastric cancer risk and prognosis

    Institute of Scientific and Technical Information of China (English)

    Meng-Meng Tian; Yu Sun; Zhong-Wu Li; Ying Wu; Ai-Lian Zhao; Ji-You Li

    2012-01-01

    AIM: To investigate the association between single nucleotide polymorphisms (SNPs) in intercellular adhesion molecule-1 (ICAM-1) and the risk, biological behavior and prognosis of gastric cancer (GC) in Chinese population. METHODS: The study group consisted of 332 GC patients and 380 healthy controls. Genotyping was performed using polymerase chain reaction and the results were confirmed by sequencing. The association of ICAM-1 K469E polymorphisms and the risk of GC were studied, and the correlation of ICAM-1 K469E polymorphisms with the clinicopathological parameters and prognosis of the patients with complete clinical and follow-up data was analyzed.RESULTS: Carriers of AA genotype had a significantly increased risk of GC compared with carriers of AG and GG genotypes [odds ratios: 1.36; 95% confidence interval (CI): 1.01-1.84; P = 0.041]. GC patients with AA genotype were more prone to distant metastasis than those carrying AG and GG genotypes (18.9% vs 7.0%, respectively; P = 0.002). In addition, patients at stage Ⅳ had significantly more carriers of AA genotype than those of AG and GG genotype (27.4% vs 16.9%, respectively; P = 0.046). Follow-up study showed that the overall cumulative survival rate was 23.7% in AA genotype group and 42.9% in AG and GG genotypes group. In univariate analysis, AA genotype was correlated with the overall cumulative survival (P = 0.034). But in multivariate analysis, ICAM-1 polymorphism was not an independent prognostic factor for the overall survival (relative risk, 1.145; 95% CI: 0.851-1.540; P = 0.370). CONCLUSION: Polymorphisms of ICAM-1 K469E can be a useful biomarker for identifying individuals with higher risk of GC, predicting disease progression, and guiding individualized treatment.

  5. Prevalence of factor V G1691A (Leiden) and prothrombin G20210A polymorphisms among apparently healthy Jordanians.

    Science.gov (United States)

    Nusier, Mohamad K; Radaideh, Abdelrahman M; Ababneh, Nida'a A; Qaqish, Bara'ah M; Alzoubi, Renad; Khader, Yousef; Mersa, Janet Y; Irshaid, Nidal M; El-Khateeb, Mohammed

    2007-10-01

    Factor V Leiden and prothrombin G20210A are related genetic risk factors for venous thromboembolism (VTE). Analysis for both mutations is increasingly being performed on patients exhibiting hypercoagulability. The objective of this study was to determine the prevalence of factor V Leiden (FVL), prothrombin-G20210A (PT-G20210A) polymorphisms and their coexistence among apparently healthy Jordanians. One thousand apparently healthy individuals from representative regions of Jordan with no previous history of VTE participated in this study. The mean age of participants was 28.5+/-6.4 years (age range 18-45 years). Two hundred and eighteen subjects were APC resistant with an APC-R mean of 85.52+/-15.35 seconds; the non-resistant subjects had an APC-R mean of 159.90+/-26.96 seconds. A multiplex polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for the simultaneous detection of FVL and prothrombin G20210A was used to analyze the 218 DNA samples that were APC-R resistant. Both mutations generate HindIII RFLPs and the prothrombin amplicon contains an invariant HindIII recognition sites. The multiplex PCR-RFLP of Factor V for those 218-samples was: 41 wild-type, 169 heterozygous mutant, and eight homozygous mutant individuals. For prothrombin G20210A, the multiplex PCR-RFLP identified 215 wild-type and three heterozygous mutant individuals. Factor V positive individuals (n=50) had a mean F-V activity of 78.04%+/-25.81. F-V activity among wild type (n=41), F-V Leiden heterozygous (n=169) and F-V Leiden homozygous (n=8) were 92.93%+/-16.17, 87.02%+/-15.21 and 96.14%+/-12.32, respectively. Factor II positive subjects (n=47) had a mean factor II activity of 127.96%+/-21.37. F-II activity among carriers (heterozygous, n=3) and non-carriers (normal, n=215) of PT-G20210A mutation were 107.67%+/-9.29 and 105.00%+/-17.79, respectively. The prevalence of FVL was 21.8% and there is a little likelihood of the co-inheritance of the FVL and PT-G20210A among

  6. Polymorphism of lead oxoborate

    Energy Technology Data Exchange (ETDEWEB)

    Tyulyupa, A.G. [Middle School, Sablinskoe, Stavropol region, 356322 (Russian Federation); Voronov, V.V. [A.M. Prokhorov General Physics Institute RAS, 38 Vavilov Street, Moscow 119991 (Russian Federation); Fedorov, P.P., E-mail: ppfedorov@yandex.ru [A.M. Prokhorov General Physics Institute RAS, 38 Vavilov Street, Moscow 119991 (Russian Federation)

    2015-07-20

    Highlights: • Pb{sub 4}B{sub 2}O{sub 7} melt undergoes statistical undercooling. • Orthorhombic nonlinear optical crystal Pb{sub 4}O(BO{sub 3}){sub 2} is the metastable γ-polymorph. • Temperature of metastable melting of γ-Pb{sub 4}O(BO{sub 3}){sub 2} is equal to 530 °C. - Abstract: The study of lead borate melt crystallization by differential thermal analysis (DTA) and X-ray diffraction analysis has shown that, for Pb{sub 4}O(BO{sub 3}){sub 2} (or 4PbO·B{sub 2}O{sub 3}) stoichiometric compound, its well-known orthorhombic modification (non-centrosymmetric Aba2 space symmetry group (SSG), a = 15.472(1), b = 10.802(1), c = 9.9486(6) Å unit cell parameters) is metastable. It forms from the undercooled melt and has a melting point of 530 ± 5 °C.

  7. Association of Adiponectin Gene Polymorphisms With the Risk of Coronary Artery Disease in Patients With Nonalcoholic Fatty Liver Disease in a Chinese Han Population

    Science.gov (United States)

    Du, Shui-Xian; Lu, Lin-Lin; Liu, Yang; Dong, Quan-Jiang; Xuan, Shi-Ying; Xin, Yong-Ning

    2016-01-01

    Background Cardiovascular events are an independent risk factor for nonalcoholic fatty liver disease (NAFLD), which is the leading cause of mortality in NAFLD patients. Several recent studies demonstrated that adiponectin (Ad) polymorphisms were involved in the progression of NAFLD and coronary artery disease (CAD). However, reports on the association between Ad polymorphisms and the risk of developing CAD in NAFLD patients are lacking in a Northern Han Chinese population. Objectives The present study was designed to evaluate the association between Ad gene polymorphisms (rs266729 and rs2241766) and the risk of developing CAD in Northern Han Chinese patients with NAFLD. Materials and Methods In this case-control study, using the polymerase chain reaction (PCR), Adrs266729 and rs2241766 gene polymorphisms were genotyped in B-type ultrasonography-proven NAFLD patients, with (n = 246) or without (n = 247) CAD and in healthy controls (n = 304). Serum lipid profiles were determined using biochemical methods. Statistical analyses were performed using SPSS 17.0 statistical software. Results There were significant differences in the Adrs266729 G allele between the NAFLD patients with and without CAD (P < 0.05). In addition, there was a significant difference in the Adrs2241766 G allele of the NAFLD patients compared with that of the controls (P < 0.05). In the NAFLD CAD population, carriers of the G allele of Adrs266729 had higher serum triglycerides (TG), total cholesterol (TC), fasting plasma glucose (FPG), and low-density lipoprotein (LDL) levels and a lower Ad level than their noncarrier counterparts (P = 0.031, P = 0.034, P = 0.007, P < 0.001, and P < 0.001, respectively). NAFLD patients without CAD had higher TG and serum FPG values and a lower Ad level than their noncarrier counterparts (P = 0.014, P = 0.038, and P < 0.001, respectively). In the NAFLD patients with/without CAD, the carriers of the G allele of Adrs2241766 had higher TG levels (P = 0.039 and P = 0

  8. [Analysis of the state of coronary arteries in patients with acute coronary syndrome in dependence on the integrin (1-3 gene polymorphism].

    Science.gov (United States)

    Zotova, T Iu; Frolov, V A; Zotov, A K; Miandina, G I; Komarova, A G

    2014-01-01

    Aim of this study was to analyze the state of coronary arteries in patients with acute coronary syndrome according to polymorphism of integrin β-3 (ITGB3) gene. All patients were divided into 2 groups: carries and non-carries of PLA2 allele. Carriers of PLA2 allele compared with noncarriers had lesser grades of coronary artery stenoses but greater number of involved arteries. Carriers had more repetitive acute coronary events.

  9. Rapid DNA haplotyping using a multiplex heteroduplex approach: application to Duchenne muscular dystrophy carrier testing.

    Science.gov (United States)

    Prior, T W; Wenger, G D; Papp, A C; Snyder, P J; Sedra, M S; Bartolo, C; Moore, J W; Highsmith, W E

    1995-01-01

    A new strategy has been developed for rapid haplotype analysis based on an initial multiplex amplification of several polymorphic sites, followed by heteroduplex detection. Heteroduplexes formed between two different alleles are detected because they migrate differently than the corresponding homoduplexes in Hydrolink-MDE gel. This simple, rapid method does not depend on specific sequences such as restriction enzyme sites or CA boxes and does not require the use of isotope. This approach has been tested using commonly occurring polymorphisms spanning the dystrophin gene as a model. We describe the use of the method to assign the carrier status of females in Duchenne muscular dystrophy (DMD) pedigrees. The method may be used for other genetic diseases when mutations are unknown or there are few dinucleotide markers in the gene proximity, and for the identification of haplotype backgrounds of mutant alleles.

  10. Carrier-carrier relaxation kinetics in quantum well semiconductor structures with nonparabolic energy bands

    DEFF Research Database (Denmark)

    Dery, H.; Tromborg, Bjarne; Eisenstein, G.

    2003-01-01

    We describe carrier-carrier scattering dynamics in an inverted quantum well structure including the nonparabolic nature of the valance band. A solution of the semiconductor Bloch equations yields strong evidence to a large change in the temporal evolution of the carrier distributions compared...

  11. High carrier frequency of 21-hydroxylase deficiency in Cyprus.

    Science.gov (United States)

    Phedonos, A A P; Shammas, C; Skordis, N; Kyriakides, T C; Neocleous, V; Phylactou, L A

    2013-12-01

    Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has been estimated to be 1:25 to 1:10 on the basis of newborn screening. The main objective of this study was to determine the carrier frequency in the Cypriot population of mutations in the CYP21A2 gene. Three hundred unrelated subjects (150 males and 150 females) from the general population of Cyprus were screened for mutations in the CYP21A2 gene and its promoter. The CYP21A2 genotype analysis identified six different mutants and revealed a carrier frequency of 9.83% with the mild p.Val281Leu being the most frequent (4.3%), followed by p.Qln318stop (2.5%), p.Pro453Ser (1.33%), p.Val304Met (0.83%), p.Pro482Ser (0.67%) and p.Met283Val (0.17%). The notable high CYP21A2 carrier frequency of the Cypriot population is one of the highest reported so far by genotype analysis. Knowledge of the mutational spectrum of CYP21A2 will enable to optimize mutation detection strategy for genetic diagnosis of 21-OHD not only in Cyprus, but also the greater Mediterranean region.

  12. Incident response: crew scheduling and rerouting of hazmat carriers

    Science.gov (United States)

    Sherali, Hanif D.; Subramanian, Shivaram; Kachroo, Pushkin

    1998-01-01

    Incident response strategies deal with the resource allocation and minimum risk re-routing of hazardous material carriers in response to traffic incidents. Such strategies also address the effect of loss in coverage due to the non- availability of response vehicles. In addition, the effect of an incident on hazmat carriers that are presented in the local vicinity is that the resulting traffic congestion considerably increases the risk of exposure for motorists. In such a situation, the hazmat carrier needs to be re- routed through a safer path. We have proposed mathematical models that address each of the two problems. The incident response model identifies an optimal allocation of response agency units and their routing in the even of traffic incidents in real-time, while also taking into consideration the response requirements for future demands. The hazmat re- routing model determines an optimal diversion route in a network using multiple risk-based objective functions to re- route Hazmat carriers in the event of an incident occurring along the prescribed route. Mathematical programming formulations are presented for each case, and solution procedures are outlined. Some computational experience is also provided.

  13. Infrared spectroscopic study of carrier scattering in gated CVD graphene

    Science.gov (United States)

    Yu, Kwangnam; Kim, Jiho; Kim, Joo Youn; Lee, Wonki; Hwang, Jun Yeon; Hwang, E. H.; Choi, E. J.

    2016-12-01

    We measured Drude absorption of gated CVD graphene using far-infrared transmission spectroscopy and determined the carrier scattering rate (γ ) as a function of the varied carrier density (n ). The n -dependent γ (n ) was obtained for a series of conditions systematically changed as (10 K, vacuum) → (300 K, vacuum) → (300 K, ambient pressure), which reveals that (1) at low-T, charged impurity (=A /√{n } ) and short-range defect (=B √{n } ) are the major scattering sources which constitute the total scattering γ =A /√{n }+B √{n } , (2) among various kinds of phonons populated at room-T , surface polar phonon of the SiO2 substrate is the dominantly scattering source, and (3) in air, the gas molecules adsorbed on graphene play a dual role in carrier scattering as charged impurity center and resonant scattering center. We present the absolute scattering strengths of those individual scattering sources, which provides the complete map of scattering mechanism of CVD graphene. This scattering map allows us to find out practical measures to suppress the individual scatterings, the mobility gains accompanied by them, and finally the ultimate attainable carrier mobility for CVD graphene.

  14. Cognitive Functions across the GNB3 C825T Polymorphism in an Elderly Italian Population

    Directory of Open Access Journals (Sweden)

    Edoardo Casiglia

    2013-01-01

    Full Text Available To verify whether the C825T polymorphism of the GNB3 influences the response to neuropsychological tests, mini-mental state examination, digit span (DS, immediate and delayed prose memory, memory with interference at 10 and 30 seconds (MI 10 and 30, trail making tests (TMTs A and B, abstraction task, verbal fluency (VF test, figure drawing and copying, overlapping figures test and clock test were performed in 220 elderly men and women free from clinical dementia and from neurological and psychiatric diseases randomly taken from the Italian general population and analysed across the C825T polymorphism. The performance of DS, immediate and delayed prose memory, VF, and TMTs was worse in subjects who were TT for the polymorphism in comparison to the C-carriers. The performance of all tests declined with age. In the case of DS, immediate and delayed prose memory, MI 10 and VF, this trend was maintained in the C-carriers but not in TT. In the case of prose memory, of memory with interference, and of VF, schooling reduced the detrimental interaction between age and genotype. The C825T polymorphism of GNB3 gene therefore influences memory and verbal fluency, being additive to the effects of age and partially mitigated by schooling.

  15. Face and emotion expression processing and the serotonin transporter polymorphism 5-HTTLPR/rs22531.

    Science.gov (United States)

    Hildebrandt, A; Kiy, A; Reuter, M; Sommer, W; Wilhelm, O

    2016-06-01

    Face cognition, including face identity and facial expression processing, is a crucial component of socio-emotional abilities, characterizing humans as highest developed social beings. However, for these trait domains molecular genetic studies investigating gene-behavior associations based on well-founded phenotype definitions are still rare. We examined the relationship between 5-HTTLPR/rs25531 polymorphisms - related to serotonin-reuptake - and the ability to perceive and recognize faces and emotional expressions in human faces. For this aim we conducted structural equation modeling on data from 230 young adults, obtained by using a comprehensive, multivariate task battery with maximal effort tasks. By additionally modeling fluid intelligence and immediate and delayed memory factors, we aimed to address the discriminant relationships of the 5-HTTLPR/rs25531 polymorphisms with socio-emotional abilities. We found a robust association between the 5-HTTLPR/rs25531 polymorphism and facial emotion perception. Carriers of two long (L) alleles outperformed carriers of one or two S alleles. Weaker associations were present for face identity perception and memory for emotional facial expressions. There was no association between the 5-HTTLPR/rs25531 polymorphism and non-social abilities, demonstrating discriminant validity of the relationships. We discuss the implications and possible neural mechanisms underlying these novel findings.

  16. BDNF Val66Met polymorphism and protein levels in Amniotic Fluid

    Directory of Open Access Journals (Sweden)

    Calabrese Francesca

    2010-02-01

    Full Text Available Abstract Background Brain-Derived Neurotrophic Factor (BDNF is a neurotrophin which plays survival- and growth-promoting activity in neuronal cells and it is involved in cellular plasticity mechanisms as it controls activity dependent synaptic transmission. A functional polymorphism (Val66Met in the pro-region of BDNF, which affects the intracellular trafficking of proBDNF has been associated with memory and cognitive deficits as well as to an increased susceptibility for several psychiatric disorders especially those with a neurodevelopmental origin. To date, no study has evaluated the influence of the Val66Met polymorphism on BDNF levels in a peripheral system that may reflect fetal neurodevelopment. Therefore we investigated in amniotic fluids (AF obtained from 139 healthy women during 15-17 week of pregnancy, BDNF protein levels in correlation with the Val66Met polymorphism. Results Interestingly we found a significant BDNF protein levels reduction in 55 Met carriers (Val/Met and Met/Met (p = 0.002 as compared to 84 non carriers (Val/Val, and no effect of fetus gender, maternal age or gestation week on BDNF levels has been observed. Conclusion These results, although explorative, indicate that during fetal life the Val66Met genotype might influences BDNF protein levels in AF supporting the involvement of this polymorphism in behavioral and functional brain individual differences in the adulthood.

  17. Genetic relationships of Corynebacterium diphtheriae strains isolated from a diphtheria case and carriers by restriction fragment length polymorphism of rRNA genes Relação genética de cepas de Corynebacterium diphtheriae isoladas de caso e seus contatos por RLFP de rRNA gene

    Directory of Open Access Journals (Sweden)

    Claudio Tavares Sacchi

    1995-08-01

    Full Text Available In the present study we report the results of an analysis, based on ribotyping of Corynebacterium diphtheriae intermedius strains isolated from a 9 years old child with clinical diphtheria and his 5 contacts. Quantitative analysis of RFLPs of rRNA was used to determine relatedness of these 7 C.diphtheriae strains providing support data in the diphtheria epidemiology. We have also tested those strains for toxigenicity in vitro by using the Elek's gel diffusion method and in vivo by using cell culture method on cultured monkey kidney cell (VERO cells. The hybridization results revealed that the 5 C.diphtheriae strains isolated from contacts and one isolated from the clinical case (nose case strain had identical RFLP patterns with all 4 restriction endonucleases used, ribotype B. The genetic distance from this ribotype and ribotype A (throat case strain, that we initially assumed to be responsible for the illness of the patient, was of 0.450 showing poor genetic correlation among these two ribotypes. We found no significant differences concerned to the toxin production by using the cell culture method. In conclusion, the use of RFLPs of rRNA gene was successful in detecting minor differences in closely related toxigenic C.diphtheriae intermedius strains and providing information about genetic relationships among them.No presente estudo, nós reportamos os resultados de uma análise, baseada na ribotipagem de cepas de C. diphtheriae intermedius isoladas de uma criança de 9 anos com difteria e seus 5 contatos. Análise quantitativa por RFLP de rRNA foi usada para determinar a relação destas 7 cepas de C. diphtheriae fornecendo dados de interesse epidemiológico. Nós também testamos estas cepas para toxicidade in vitro usando método de difusão de Elek e in vivo usando método de cultura celular com células VERO. Os resultados de hibridização revelaram que as 5 cepas de C. diphtheriae isoladas dos contatos e uma isolada do caso (cepa isolada

  18. Plasma concentrations of apolipoprotein B are modulated by a gene--diet interaction effect between the LFABP T94A polymorphism and dietary fat intake in French-Canadian men.

    Science.gov (United States)

    Robitaille, J; Brouillette, C; Lemieux, S; Pérusse, L; Gaudet, D; Vohl, M C

    2004-08-01

    Hyperapobetalipoproteinemia is a common feature of the metabolic syndrome and could result from the interaction between genetic and dietary factors. The objective of this study was to verify whether dietary fat intake interacts with the T94A polymorphism of the liver fatty acid-binding protein (LFABP) gene to modulate plasma apolipoprotein (apo) B levels. Dietary fat and saturated fat intakes were obtained by a dietitian-administered food frequency questionnaire and the LFABP T94A genotype was determined by a PCR-RFLP based method in 623 French-Canadian men recruited through the Chicoutimi Lipid Clinic (279 T94/T94, 285 T94/A94, and 59 A94/A94). The LFABP T94A polymorphism was not associated with plasma apo B levels when fat intake was not taken into consideration. However, in a model including the polymorphism, fat intake expressed as a percentage of total energy intake, the interaction term and covariates, the variance in apo B concentrations was partly explained by the LFABP T94A polymorphism (5.24%, p = 0.01) and by the LFABP T94A*fat interaction (6.25%, p = 0.005). Results were similar when saturated fat replaced fat intake in the model (4.49%, p = 0.02 for LFABP T94A and 6.43%, p = 0.004 for the interaction). Moreover, in men consuming more than 30% of energy from fat, the odds ratio for having plasma apo B levels above 1.04 g/L for A94 carriers was of 0.40 (p = 0.02) compared to T94/T94 homozygotes. Results were similar for carriers of the A94 allele consuming more than 10% of energy from saturated fat (OR: 0.32, p = 0.005). In conclusion, T94/T94 exhibit higher apo B levels whereas carriers of the A94 allele seem to be protected against high apo B levels when consuming a high fat and saturated fat diet. These findings reinforce the importance to take into account gene-diet interactions in the prevention and management of the metabolic syndrome.

  19. Polymorphism control of p-aminobenzoic acid by isothermal anti-solvent crystallization

    Science.gov (United States)

    Garg, Rakesh Kumar; Sarkar, Debasis

    2016-11-01

    We report, for the first time, the control of polymorphism of p-aminobenzoic acid by isothermal anti-solvent crystallization using ethanol as solvent and water as anti-solvent. p-aminobenzoic (p-ABA) acid crystallizes in two distinct polymorphic forms: the α-polymorph, which is commercially available form and appears as long fibrous needles; and the β-polymorph, which appears in the form of prisms. The solubility of p-ABA was determined gravimetrically for various water/ethanol mixtures at 15 °C and isothermal anti-solvent crystallization experiments were conducted at 15 °C over a range of supersaturation ratio from 1.01 to 1.30 and at different anti-solvent addition rates of 4, 6, 8, and10 ml/h. The needle-type α-polymorph was always obtained at higher supersaturation ratio and higher flow-rates of anti-solvent addition. The prismatic β-polymorph was obtained at lower supersaturation range of 1.01-1.06 when anti-solvent was added at 4 and 6 ml/h. The obtained polymorphs were characterized using scanning electron microscopy, powder x-ray diffraction, and differential scanning calorimetry. The region of occurrence of each polymorph with respect to supersaturation ratio and anti-solvent wt% is presented for these addition rates. The careful selection of supersaturation ratio and anti-solvent addition rate can produce desired polymorph of p-ABA by anti-solvent crystallization.

  20. Providing resilience for carrier ethernet multicast traffic

    DEFF Research Database (Denmark)

    Ruepp, Sarah Renée; Wessing, Henrik; Zhang, Jiang

    2009-01-01

    This paper presents an overview of the Carrier Ethernet technology with specific focus on resilience. In particular, we detail how multicast traffic, which is essential for e.g. IPTV can be protected. We present Carrier Ethernet resilience methods for linear and ring networks and show by simulation...

  1. Protection switching for carrier ethernet multicast

    DEFF Research Database (Denmark)

    Ruepp, Sarah Renée; Wessing, Henrik; Berger, Michael Stübert

    2010-01-01

    This paper addresses network survivability for IPTV multicast transport in Carrier Ethernet networks. The impact of link failures is investigated and suggestions for intelligent multicast resilience schemes are proposed. In particular, functions of the multicast tree are integrated with the Carrier...

  2. Aggression and 5HTT polymorphism in females: study of synchronized swimming and control groups.

    Science.gov (United States)

    Sysoeva, Olga V; Maluchenko, Natalia V; Timofeeva, Marina A; Portnova, Galina V; Kulikova, Maria A; Tonevitsky, Alexandr G; Ivanitsky, Alexey M

    2009-05-01

    Aggression is a heterogeneous heritable psychological trait, also influenced by environmental factors. Previous studies, mostly conducted on male population, have found some associations of the aggression with the polymorphisms of genes, regulating the activity of serotonin (5-HT) in the brain. However, psychological as well as biochemical manifestations of the aggression are different in males and females. Our study aimed to investigate the association of 5-HTT gene polymorphism with different facets of aggression (BDHI) in females. Two groups: the synchronized swimming and non-athlete control, - were examined to study the possible modulation effect of sport on the association between 5-HTT gene polymorphism and aggression. It was found that in both groups the low-active 5-HTT polymorphism (SS) was associated with increased scores on Indirect Hostility scale and decreased scores on Negativism scale, compared to LL genotype. No interaction effect between sport and 5-HTT polymorphism was found. The higher percentage of LL-carriers and lower of LS-carriers in the synchronized swimming group compared to the control one was observed. This may be the sign of the importance of LL polymorphism of 5-HTT gene, previously associated with higher resistance to stress factors, for being an athlete, although this result has to be taken cautiously keeping in mind the stratification problem. Synchronized swimmers had lower scores on Assault, Negativism, Irritability and Verbal Hostility compared to age-matched control girls (in general and for each 5-HTT genotype separately), suggesting that they may have more matured emotional system (older control group has also lower scores on these scales).

  3. Apolipoprotein A1 gene polymorphisms as risk factors for hypertension and obesity.

    Science.gov (United States)

    Chen, Elizabeth Suchi; Mazzotti, Diego Robles; Furuya, Tatiane Katsue; Cendoroglo, Maysa Seabra; Ramos, Luiz Roberto; Araujo, Lara Quirino; Burbano, Rommel Rodriguez; de Arruda Cardoso Smith, Marília

    2009-12-01

    Several polymorphisms in apolipoprotein A1 (APOA1) gene have been associated with metabolic diseases. Increased transcription efficiency was observed in -75A allele carriers compared to -75G allele homozygotes. +83C allele was associated with higher body mass index and waist-to-hip ratio in type II diabetes subjects. -75G/A and +83C/T polymorphisms were analyzed by RFLP-PCR in 334 individuals from a Brazilian elderly cohort. APOA1 polymorphisms were associated with age-related morbidities, as well as with triglycerides, total cholesterol, HDL, VLDL, LDL, creatinine, urea, albumin, glycated hemoglobin and fasting glucose serum levels. Allele frequencies were 0.102 and 0.21, respectively, for -75A and +83T. -75G allele showed significant association with hypertension (P = 0.001). An association between +83C allele and obesity was observed (P = 0.040) and this allele also showed an association with hypertension in the presence of cardiovascular disease (P = 0.047). Moreover, +83T allele was associated with lower glycated hemoglobin values (P = 0.026). To our knowledge, there is no data associating this polymorphism with glycated hemoglobin. Furthermore, individuals carrying AT haplotype have lower risk for developing hypertension (P = 0.0002), while GT haplotype carriers present decreased risk to develop obesity comparing to GC haplotype (P = 0.025). APOA1 polymorphisms analysis may be a useful tool to identify risk factors for subjects and families and clarify the physiopathological role of these polymorphisms in age-related diseases, such as hypertension and obesity.

  4. Dietary effects on coagulation factor VII vary across genotypes of the R/Q353 polymorphism in elderly people

    NARCIS (Netherlands)

    Mennen, L.I.; Maat, M.P.M. de; Schouten, E.G.; Kluft, C.; Witteman, J.C.M.; Hofman, A.; Grobbee, D.E.

    1998-01-01

    The objective of this study was to evaluate the association of factor VII with dietary factors while also considering the R/Q353 polymorphism. Nutrition is an important determinant of coagulation factor VII, which is also genetically determined by the R/Q353 polymorphism. High levels of coagulation

  5. Polymorphisms of the OXTR Gene Explain Why Sales Professionals Love to Help Customers

    Directory of Open Access Journals (Sweden)

    Willem J.M.I. Verbeke

    2013-11-01

    Full Text Available Polymorphisms of the OXTR gene affect people’s social interaction styles in various social encounters: carriers of the OXTR GG, compared to the OXTR AA/AG in general, are more motivated to interact socially and detect social salience. We focus on sales professionals operating in knowledge intensive organizations. Study 1, with a sample of 141 sales people, shows that carriers of the OXTR GG allele, compared to the OXTR AA/AG allele, are more motivated to help customers than to manipulatively impose goods/services on them. Study 2, using genomic functional magnetic resonance imaging (fMRI on a sample of 21 sales professionals processing facial pictures with different emotional valences, investigates key nuclei of social brain regions (SBRs. Compared to OXTR AA/AG carriers, OXTR GG carriers experience greater effective connectivity between SBRs of interest measured by Granger causality tests using univariate Haugh tests. In addition, the multivariate El-Himdi and Roy tests demonstrate that the amygdala, prefrontal cortex, and pars opercularis (inferior frontal gyrus play key roles when processing emotional expressions. The bilateral amygdala and medial prefrontal cortex show significantly greater clout – influence on other brain regions – for GG allele carriers than non-carriers; likewise, the bilateral pars opercularis, left amygdala, and left medial prefrontal cortex are more receptive to activity in other brain regions among GG allele carriers than AG/AA allele carriers are. Thus, carriers of the OXTR GG allele are more sensitive to changes in emotional cues, enhancing social salience. To our knowledge, this is the first study on how insights from imaging genetics help understanding of the social motivation of people operating in a professional setting.

  6. Polymorphisms of the OXTR gene explain why sales professionals love to help customers.

    Science.gov (United States)

    Verbeke, Willem; Bagozzi, Richard P; van den Berg, Wouter E; Lemmens, Aurelie

    2013-01-01

    Polymorphisms of the OXTR gene affect people's social interaction styles in various social encounters: carriers of the OXTR GG, compared to the OXTR AA/AG in general, are more motivated to interact socially and detect social salience. We focus on sales professionals operating in knowledge intensive organizations. Study 1, with a sample of 141 sales people, shows that carriers of the OXTR GG allele, compared to the OXTR AA/AG allele, are more motivated to help customers than to manipulatively impose goods/services on them. Study 2, using genomic functional magnetic resonance imaging (fMRI) on a sample of 21 sales professionals processing facial pictures with different emotional valences, investigates key nuclei of social brain regions (SBRs). Compared to OXTR AA/AG carriers, OXTR GG carriers experience greater effective connectivity between SBRs of interest measured by Granger causality tests using univariate Haugh tests. In addition, the multivariate El-Himdi and Roy tests demonstrate that the amygdala, prefrontal cortex, and pars opercularis (inferior frontal gyrus) play key roles when processing emotional expressions. The bilateral amygdala and medial prefrontal cortex (mPFC) show significantly greater clout-influence on other brain regions-for GG allele carriers than non-carriers; likewise, the bilateral pars opercularis, left amygdala, and left mPFC are more receptive to activity in other brain regions among GG allele carriers than AG/AA allele carriers are. Thus, carriers of the OXTR GG allele are more sensitive to changes in emotional cues, enhancing social salience. To our knowledge, this is the first study on how insights from imaging genetics help understanding of the social motivation of people operating in a professional setting.

  7. A Simplified Technique for Evaluating Human "CCR5" Genetic Polymorphism

    Science.gov (United States)

    Falteisek, Lukáš; Cerný, Jan; Janštová, Vanda

    2013-01-01

    To involve students in thinking about the problem of AIDS (which is important in the view of nondecreasing infection rates), we established a practical lab using a simplified adaptation of Thomas's (2004) method to determine the polymorphism of HIV co-receptor CCR5 from students' own epithelial cells. CCR5 is a receptor involved in…

  8. A Simplified Technique for Evaluating Human "CCR5" Genetic Polymorphism

    Science.gov (United States)

    Falteisek, Lukáš; Cerný, Jan; Janštová, Vanda

    2013-01-01

    To involve students in thinking about the problem of AIDS (which is important in the view of nondecreasing infection rates), we established a practical lab using a simplified adaptation of Thomas's (2004) method to determine the polymorphism of HIV co-receptor CCR5 from students' own epithelial cells. CCR5 is a receptor involved in inflammatory…

  9. Single Nucleotide Polymorphisms Predict Symptom Severity of Autism Spectrum Disorder

    Science.gov (United States)

    Jiao, Yun; Chen, Rong; Ke, Xiaoyan; Cheng, Lu; Chu, Kangkang; Lu, Zuhong; Herskovits, Edward H.

    2012-01-01

    Autism is widely believed to be a heterogeneous disorder; diagnosis is currently based solely on clinical criteria, although genetic, as well as environmental, influences are thought to be prominent factors in the etiology of most forms of autism. Our goal is to determine whether a predictive model based on single-nucleotide polymorphisms (SNPs)…

  10. Selection of Carrier Waveforms for PWM Inverter

    Institute of Scientific and Technical Information of China (English)

    陈国呈; 屈克庆; 许春雨; 孙承波

    2003-01-01

    In this paper the influence of different carrier waveforms upon the output characteristics of PWM inverter is described in detail. When a triangular carrier waveform is used in hard-switching PWM inverters, harmonics exist in the neighborhood of the output frequency of the inverter output voltage and current due to the dead time. The triangular carrier waveform used in soft-switching PWM inverter will cause difficulties in controlling resonance-trigger time, higher loss in the resonant circuit, and less utilization of the DC bus voltage. If a sawtooth carrier is used in hard-switching PWM inverter, there will be severe distortion in the current waveform. When sawtooth carriers with alternate positive and negative slopes are used in soft-switching PWM inverters, the resonancetrigger time is easy to control, and distortion in the output voltage and current caused by the dead time will not appear.

  11. The Kinetics of Carrier Transport Inhibition

    DEFF Research Database (Denmark)

    Rosenberg, T.; Wilbrandt, Robert Walter

    1962-01-01

    The kinetical treatment of enzymatic carrier transports as given in previous communications has been extended to conditions of inhibition. Various possible types of inhibitors have been considered differing in the site of attack (enzyme or carrier), in the mode of action (competing...... with the substrate for the enzyme or the carrier or for both, competing with the carrier for the enzyme, or non-competitive) and in the ability of penetrating the membrane. Experiments are reported on the inhibition of glucose and fructose transport across the human red cell membrane by phlorizine, phloretine...... the first order asymmetry severalfold (“second order asymmetry”). It was shown that a substrate competitive mode of action involving competition both for the enzyme and for the enzyme-bound carrier will result in a behaviour resembling the observed “second order asymmetry”. It is felt, therefore...

  12. Modeling of Carrier Dynamics in Electroabsorption Modulators

    DEFF Research Database (Denmark)

    Højfeldt, Sune

    2002-01-01

    and a phenomenological model for the carrier sweep-out dynamics, we investigate all-optical wavelength conversion, all-optical signal regeneration, and all-optical demultiplexing. A detailed drift-diffusion type model for the sweerp-out of photo-excited carriers in electroabsorption modulators is presented. We use...... the model to calclulate absorption spectra and steady-state carrier distributions in different modulator structures. This allows us to investigate a number of important properties of electroabsorption modulators, such as the electroabsorption effect and th saturation properties. We also investigate...... the influence that carrier recapture has on the device properties, and we discuss the recapture process on a more fundamental level. The model is also used to investigate in detail the carrier sweep-out process in electroabsorption modulators. We investigate how the intrinsic-region width, the separate...

  13. Search for genetic markers determining the efficiency of therapy with bisphosphonates in Russian women with postmenopausal osteoporosis: A pilot study

    Directory of Open Access Journals (Sweden)

    M. Yu. Krylov

    2016-01-01

    Full Text Available Many clinical observations show that patient’s genetic background is of great importance in determining the efficiency of treatment.Subjects and methods. The instigation included 50 postmenopausal women with osteoporosis (OP, who were followed up at the Laboratory of osteoporosis, V.A. Nasonova Research Institute of Rheumatology. Body mineral density (BMD in the lumbar spine (LI-IV, femoral neck (FN, and total hip was measured using dual-energy X-ray absorptiometry before and 12 months after treatment with bisphosphonates (BP. To estimate BMD changes, the investigators used ΔBMD in percent (Δ, %.Results and discussion. The whole group showed a positive effect of BP therapy during a year, which was most pronounced in the lumbar spine (mean ΔBMD, about 4%, and a small increment in the proximal hip BMD (mean ΔBMD, about 2%. An analysis indicated a statistically significant correlation of MCP1 -2518A>G polymorphism with changes in LI-IV BMD after 12-month BP therapy. Thus, the female patients who were A allele carriers had a twice lower increase in LI-IV BMD due to BP therapy than those without this allele. The genetic variants of the CCR5 gene, which were related to Δ32 deletion, and IL1β -511C/T polymorphism were also associated with changes in FN BMD following 12-month BP therapy. The BMD increase due to BP therapy in the carriers of the CCR5 Δ32 mutation (wt/Δ32 genotype was 3.5-fold than that in the carriers of the wild type gene (wt/wt genotype. Examination of IL1 -511C/T polymorphism demonstrated that the FN BMD increment in the carriers of the CC genotype was significantly higher than in those of the CT genotype (4.2±4.8 and 1.0±3.7%, respectively; р = 0.023. Our investigation revealed no significant relationship between VDR, LEPR, IL10, MHTFR, PPARG, SPP1, and CCR5(G/A gene polymorphisms and 12-month BP therapy-induced BMD changes in the three study skeletal regions. The findings may suggest that genetic testing may be used to

  14. Lack of association between serotonin transporter gene polymorphism 5-HTTLPR and smoking among Polish population: a case-control study

    Directory of Open Access Journals (Sweden)

    Jassem Ewa

    2008-08-01

    Full Text Available Abstract Background A better understanding of the genetic determinants of tobacco smoking might help in developing more effective cessation therapies, tailored to smokers' genotype. Insertion/deletion polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR has been linked to vulnerability to smoking and ability to quit. We aimed to determine whether 5-HTTLPR genotype is associated with smoking behavior in Caucasians from Northern Poland and to investigate other risk factors for tobacco smoking. Methods 5-HTTLPR genotypes were determined in 149 ever smokers (66 females; mean age 53.0 years and 158 gender and ethnicity matched never smoking controls (79 females; mean age 45.0 years to evaluate the association of this polymorphism with ever smoking status. Analysis of smokers was performed to evaluate the role of 5-HTTLPR in the age of starting regular smoking, the number of cigarettes smoked daily, pack-years, FTND score, duration of smoking, and the mean length of the longest abstinence on quitting. Genotype was classified according to the presence or absence of the short (S allele vs. the long (L allele of 5-HTTLPR (i.e., S/S + S/L vs. L/L. Logistic regression analysis was also used to evaluate correlation between ever smoking and several selected variables. Results We found no significant differences in the rates of S allele carriers in ever smokers and never smokers, and no relationship was observed between any quantitative measures of smoking and the polymorphism. Multivariate analysis demonstrated significant association between the older age (OR = 4.03; 95% CI: 2.33–6.99 and alcohol dependence (OR = 10.23; 95% CI: 2.09–50.18 and smoking. Conclusion 5-HTTLPR seems to be not a major factor determining cigarette smoking in Poles. Probably, the risk of smoking results from a large number of genes, each contributing a small part of the overall risk, while numerous non-genetic factors might strongly influence these

  15. Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

    OpenAIRE

    Muzaffer Ilhan; Bahar Toptas-Hekimoglu; Ilhan Yaylim; Seda Turgut; Saime Turan; Ozcan Karaman; Ertugrul Tasan

    2015-01-01

    Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly. Design, Patients, and Methods. 52 acromegaly patients (mean age 45.7 ± 1.9 years) and 83 controls (mean age 43.1 ± 2.6 years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based...

  16. DNA polymorphism at the casein loci in sheep.

    Science.gov (United States)

    Di Gregorio, P; Rando, A; Pieragostini, E; Masina, P

    1991-01-01

    By using seven endonucleases and four bovine cDNA probes specific for alpha S1-, alpha S2-, beta-, and kappa-casein genes, nine restriction fragment length polymorphisms (RFLPs) have been found in the sheep orthologous DNA regions. In contrast to the low level of variation observed at the protein level, these DNA polymorphisms determine a high level of heterozygosity and, therefore, represent useful tools for genetic analyses since they can also be obtained without the need for gene expression. In fact, informative matings suggest that in sheep, as in cattle, the four loci are linked.

  17. Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection.

    Science.gov (United States)

    Prior, T W; Papp, A C; Snyder, P J; Sedra, M S; Western, L M; Bartolo, C; Moxley, R T; Mendell, J R

    1994-03-01

    Approximately one-third of the Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene. For carrier and prenatal studies in families without detectable mutations, the indirect restriction fragment length polymorphism linkage approach is used. Using a multiplex amplification and heteroduplex analysis of dystrophin exons, we identified nonsense mutations in two DMD patients. Although the nonsense mutations are predicted to severely truncate the dystrophin protein, both patients presented with mild clinical courses of the disease. As a result of identifying the mutation in the affected boys, direct carrier studies by heteroduplex analysis were extended to other relatives. We conclude that the technique is not only ideal for mutation detection but is also useful for diagnostic testing.

  18. Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection

    Energy Technology Data Exchange (ETDEWEB)

    Prior, T.W.; Papp, A.C.; Snyder, P.J.; Sedra, M.S.; Western, L.M.; Bartolo, C.; Mendell, J.R. [Ohio State Univ., Columbus, OH (United States); Moxley, R.T. [Univ. of Rochester Medical Center, NY (United States)

    1994-03-01

    Approximately one-third of Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene. For carrier and prenatal studies in families without detectable mutations, the indirect restriction fragment length polymorphism linkage approach is used. Using a multiplex amplification and heteroduplex analysis of dystrophin exons, the authors identified nonsense mutations in two DMD patients. Although the nonsense mutations are predicted to severely truncate the dystrophin protein, both patients presented with mild clinical courses of the disease. As a result of identifying the mutation in the affected boys, direct carrier studies by heteroduplex analysis were extended to other relatives. The authors conclude that the technique is not only ideal for mutation detection but is also useful for diagnostic testing. 29 refs., 4 figs.

  19. Hydrogen: the future energy carrier.

    Science.gov (United States)

    Züttel, Andreas; Remhof, Arndt; Borgschulte, Andreas; Friedrichs, Oliver

    2010-07-28

    Since the beginning of the twenty-first century the limitations of the fossil age with regard to the continuing growth of energy demand, the peaking mining rate of oil, the growing impact of CO2 emissions on the environment and the dependency of the economy in the industrialized world on the availability of fossil fuels became very obvious. A major change in the energy economy from fossil energy carriers to renewable energy fluxes is necessary. The main challenge is to efficiently convert renewable energy into electricity and the storage of electricity or the production of a synthetic fuel. Hydrogen is produced from water by electricity through an electrolyser. The storage of hydrogen in its molecular or atomic form is a materials challenge. Some hydrides are known to exhibit a hydrogen density comparable to oil; however, these hydrides require a sophisticated storage system. The system energy density is significantly smaller than the energy density of fossil fuels. An interesting alternative to the direct storage of hydrogen are synthetic hydrocarbons produced from hydrogen and CO2 extracted from the atmosphere. They are CO2 neutral and stored like fossil fuels. Conventional combustion engines and turbines can be used in order to convert the stored energy into work and heat.

  20. Methanol as an energy carrier

    Energy Technology Data Exchange (ETDEWEB)

    Biedermann, P.; Grube, T.; Hoehlein, B. (eds.)

    2006-07-01

    For the future, a strongly growing energy demand is expected in the transport sector worldwide. Economically efficient oil production will run through a maximum in the next decade. Higher fuel prices and an environmentally desirable reduction of emissions will increase the pressure for reducing fuel consumption and emissions in road traffic. These criteria show the urgent necessity of structural changes in the fuel market. Due to its advantages concerning industrial-scale production, storage and global availability, methanol has the short- to medium-term potential for gaining increased significance as a substitution product in the energy market. Methanol can be produced both from fossil energy sources and from biomass or waste materials through the process steps of synthesis gas generation with subsequent methanol synthesis. Methanol has the potential to be used in an environmentally friendly manner in gasoline/methanol mixtures for flexible fuel vehicles with internal combustion engines and in diesel engines with pure methanol. Furthermore, it can be used in fuel cell vehicles with on-board hydrogen production in direct methanol fuel cell drives, and in stationary systems for electricity and heat generation as well as for hydrogen production. Finally, in portable applications it serves as an energy carrier for electric power generation. In this book, the processes for the production and use of methanol are presented and evaluated, markets and future options are discussed and issues of safety and environmental impacts are addressed by a team of well-known authors. (orig.)

  1. Genotype frequencies of polymorphic GSTM1, GSTT1, and cytochrome P450 CYP1A1 in Mexicans.

    Science.gov (United States)

    Montero, Regina; Araujo, Antonio; Carranza, Paloma; Mejía-Loza, Vanessa; Serrano, Luis; Albores, Arnulfo; Salinas, Juan E; Camacho-Carranza, Rafael

    2007-06-01

    The genotype frequencies of three metabolic polymorphisms were determined in a sample of a typical community in central Mexico. CYP1A1*3, GSTM1, and GSTT1 polymorphisms were studied in 150 donors born in Mexico and with Mexican ascendants; with respect to ethnicity the subjects can be considered Mestizos. PCR reactions were used to amplify specific fragments of the selected genes from genomic DNA. An unexpected 56.7% frequency of the CYP1A1*3 allele (which depends on the presence of a Val residue in the 462 position of the enzyme, instead of Ile) was found, the highest described for open populations of different ethnic origins (i.e., Caucasian, Asian, African, or African American). The GSTM1 null genotype was found with a frequency of 42.6%, which is not different from other ethnicities, whereas the GSTT1 null genotype had a frequency of 9.3%, one of the lowest described for any ethnic group but comparable to the frequency found in India (9.7%). The frequency of the combined genotype CYP1A1*3/*3 and the GSTM1 null allele is one of the highest observed to date (or perhaps the highest): 13.7% among all the ethnicities studied, including Caucasians and Asians, whereas the combination of CYP1A1*3/*3 with the GSTT1 null allele reached only 2.8%. The GSTM1 null allele combined with the GSTT1 null allele, on the other hand, has one of the lowest frequencies described, 4.24%, comparable to the frequencies found in African Americans and Indians. Finally, the combined CYP1A1*3/*3, GSTM1 null allele, and GSTT1 null allele genotype could not be found in the sample studied; it is assumed that the frequency of carriers of these combined genotypes is less than 1%. CYP1A1*3 and CYP1A1*2 polymorphisms were also evaluated in 50 residents in a community of northern Mexico; the CYP1A1*3 frequency was 54%, similar to that found in the other community studied, and the CYP1A1*2 frequency was 40%, which is high compared to Caucasians and Asians but comparable to the frequency found in

  2. DRD4 polymorphism moderates the effect of alcohol consumption on social bonding.

    Directory of Open Access Journals (Sweden)

    Kasey G Creswell

    Full Text Available Development of interpersonal relationships is a fundamental human motivation, and behaviors facilitating social bonding are prized. Some individuals experience enhanced reward from alcohol in social contexts and may be at heightened risk for developing and maintaining problematic drinking. We employed a 3 (group beverage condition ×2 (genotype design (N = 422 to test the moderating influence of the dopamine D4 receptor gene (DRD4 VNTR polymorphism on the effects of alcohol on social bonding. A significant gene x environment interaction showed that carriers of at least one copy of the 7-repeat allele reported higher social bonding in the alcohol, relative to placebo or control conditions, whereas alcohol did not affect ratings of 7-absent allele carriers. Carriers of the 7-repeat allele were especially sensitive to alcohol's effects on social bonding. These data converge with other recent gene-environment interaction findings implicating the DRD4 polymorphism in the development of alcohol use disorders, and results suggest a specific pathway by which social factors may increase risk for problematic drinking among 7-repeat carriers. More generally, our findings highlight the potential utility of employing transdisciplinary methods that integrate genetic methodologies, social psychology, and addiction theory to improve theories of alcohol use and abuse.

  3. DRD4 polymorphism moderates the effect of alcohol consumption on social bonding.

    Science.gov (United States)

    Creswell, Kasey G; Sayette, Michael A; Manuck, Stephen B; Ferrell, Robert E; Hill, Shirley Y; Dimoff, John D

    2012-01-01

    Development of interpersonal relationships is a fundamental human motivation, and behaviors facilitating social bonding are prized. Some individuals experience enhanced reward from alcohol in social contexts and may be at heightened risk for developing and maintaining problematic drinking. We employed a 3 (group beverage condition) ×2 (genotype) design (N = 422) to test the moderating influence of the dopamine D4 receptor gene (DRD4 VNTR) polymorphism on the effects of alcohol on social bonding. A significant gene x environment interaction showed that carriers of at least one copy of the 7-repeat allele reported higher social bonding in the alcohol, relative to placebo or control conditions, whereas alcohol did not affect ratings of 7-absent allele carriers. Carriers of the 7-repeat allele were especially sensitive to alcohol's effects on social bonding. These data converge with other recent gene-environment interaction findings implicating the DRD4 polymorphism in the development of alcohol use disorders, and results suggest a specific pathway by which social factors may increase risk for problematic drinking among 7-repeat carriers. More generally, our findings highlight the potential utility of employing transdisciplinary methods that integrate genetic methodologies, social psychology, and addiction theory to improve theories of alcohol use and abuse.

  4. 77 FR 46555 - Motor Carrier Safety Advisory Committee: Public Meeting

    Science.gov (United States)

    2012-08-03

    ... Federal Motor Carrier Safety Administration Motor Carrier Safety Advisory Committee: Public Meeting AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Notice of meeting of Motor Carrier... major mot