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Sample records for inactive alleles caused

  1. Population-attributable causes of cancer in Korea: obesity and physical inactivity.

    Science.gov (United States)

    Park, Sohee; Kim, Yeonju; Shin, Hai-Rim; Lee, Boram; Shin, Aesun; Jung, Kyu-Won; Jee, Sun Ha; Kim, Dong Hyun; Yun, Young Ho; Park, Sue Kyung; Boniol, Mathieu; Boffetta, Paolo

    2014-01-01

    Changes in lifestyle including obesity epidemic and reduced physical activity influenced greatly to increase the cancer burden in Korea. The purpose of the current study was to perform a systematic assessment of cancers attributable to obesity and physical inactivity in Korea. Gender- and cancer site-specific population-attributable fractions (PAF) were estimated using the prevalence of overweight and obesity in 1992-1995 from a large-scale prospective cohort study, the prevalence of low physical activity in 1989 from a Korean National Health Examination Survey, and pooled relative risk estimates from Korean epidemiological studies. The overall PAF was then estimated using 2009 national cancer incidence data from the Korea Central Cancer Registry. Excess body weight was responsible for 1,444 (1.5%) and 2,004 (2.2%) cancer cases among men and women, respectively, in 2009 in Korea. Among men, 6.8% of colorectal, 2.9% of pancreatic, and 16.0% of kidney cancer was attributable to excess body weight. In women, 6.6% of colorectal, 3.9% of pancreatic, 18.7% of kidney, 8.2% of postmenopausal breast, and 32.7% of endometrial cancer was attributable to excess body weight. Low leisure-time physical activity accounted for 8.8% of breast cancer, whereas the PAF for overall cancer was low (0.1% in men, 1.4% in women). Projections suggest that cancers attributable to obesity will increase by 40% in men and 16% in women by 2020. With a significantly increasing overweight and physically inactive population, and increasing incidence of breast and colorectal cancers, Korea faces a large cancer burden attributable to these risk factors. Had the obese population of Korea remained stable, a large portion of obesity-related cancers could have been avoided. Efficient cancer prevention programs that aim to reduce obesity- and physical inactivity-related health problems are essential in Korea.

  2. Phenotypic Effects of an Allele Causing Obligate Parthenogenesis in a Rotifer

    Science.gov (United States)

    Scheuerl, Thomas; Riss, Simone

    2011-01-01

    Transitions to obligate asexuality have been documented in almost all metazoan taxa, yet the conditions favoring such transitions remained largely unexplored. We address this problem in the rotifer Brachionus calyciflorus. In this species, a polymorphism at a single locus, op, can result in transitions to obligate parthenogenesis. Homozygotes for the op allele reproduce strictly by asexual reproduction, whereas heterozygous clones (+/op) and wild-type clones (+/+) are cyclical parthenogens that undergo sexual reproduction at high population densities. Here, we examine dosage effects of the op allele by analyzing various life-history characteristics and population traits in 10 clones for each of the 3 possible genotypes (op/op, +/op, and +/+). For most traits, we found that op/op clones differed significantly (P < 0.05) from the 2 cyclical parthenogenetic genotypes (+/+ and +/op). By contrast, the 2 cyclical parthenogenetic genotypes were almost indistinguishable, except that heterozygote individuals were slightly but significantly smaller in body size compared with wild-type individuals. Overall, this indicates that the op allele is selectively neutral in the heterozygous state. Thus, selective sweeps of this allele in natural populations would first require conditions favoring the generation of homozygotes. This may be given by inbreeding in very small populations or by double mutants in very large populations. PMID:21576287

  3. Phenotypic effects of an allele causing obligate parthenogenesis in a rotifer.

    Science.gov (United States)

    Scheuerl, Thomas; Riss, Simone; Stelzer, Claus-Peter

    2011-01-01

    Transitions to obligate asexuality have been documented in almost all metazoan taxa, yet the conditions favoring such transitions remained largely unexplored. We address this problem in the rotifer Brachionus calyciflorus. In this species, a polymorphism at a single locus, op, can result in transitions to obligate parthenogenesis. Homozygotes for the op allele reproduce strictly by asexual reproduction, whereas heterozygous clones (+/op) and wild-type clones (+/+) are cyclical parthenogens that undergo sexual reproduction at high population densities. Here, we examine dosage effects of the op allele by analyzing various life-history characteristics and population traits in 10 clones for each of the 3 possible genotypes (op/op, +/op, and +/+). For most traits, we found that op/op clones differed significantly (P < 0.05) from the 2 cyclical parthenogenetic genotypes (+/+ and +/op). By contrast, the 2 cyclical parthenogenetic genotypes were almost indistinguishable, except that heterozygote individuals were slightly but significantly smaller in body size compared with wild-type individuals. Overall, this indicates that the op allele is selectively neutral in the heterozygous state. Thus, selective sweeps of this allele in natural populations would first require conditions favoring the generation of homozygotes. This may be given by inbreeding in very small populations or by double mutants in very large populations.

  4. An extensive polymerase chain reaction-allele-specific polymorphism strategy for clinical ABO blood group genotyping that avoids potential errors caused by null, subgroup, and hybrid alleles.

    Science.gov (United States)

    Hosseini-Maaf, Bahram; Hellberg, Asa; Chester, M Alan; Olsson, Martin L

    2007-11-01

    ABO genotyping is complicated by the remarkable diversity at the ABO locus. Recombination or gene conversion between common alleles may lead to hybrids resulting in unexpected ABO phenotypes. Furthermore, numerous mutations associated with weak subgroups and nondeletional null alleles should be considered. All known ABO genotyping methods, however, risk incorrect phenotype predictions if any such alleles are present. An extensive set of allele-specific primers was designed to accomplish hybrid-proof multiplex polymerase chain reaction (PCR) amplification of DNA fragments for detection of ABO alleles. Results were compared with serologic findings and ABO genotypes defined by previously published PCR-restriction fragment length polymorphism/PCR-allele-specific polymorphism (ASP) methods or DNA sequencing. Phenotypically well-characterized samples from blood donors with common blood groups and rare-subgroup families were analyzed. In addition to the commonly encountered alleles (A1, A1(467C>T), A2, B, O1, O1v, and O2), the new method can detect hybrid alleles thanks to long-range amplification across intron 6. Four of 12 PCR-ASP procedures are used to screen for multiple infrequent subgroup and null alleles. This concept allows for a low-resolution typing format in which the presence of, for example, a weak subgroup or cis-AB/B(A) is indicated but not further defined. In an optional high-resolution step, more detailed genotype information is obtained. A new genotyping approach has been developed and evaluated that can correctly identify ABO alleles including nondeletional null alleles, subgroups, and hybrids resulting from recombinational crossing-over events between exons 6 and 7. This approach is clinically applicable and decreases the risk for erroneous ABO phenotype prediction compared to previously published methods.

  5. Paternal or maternal uniparental disomy of chromosome 16 resulting in homozygosity of a mutant allele causes Fanconi anemia

    OpenAIRE

    Donovan, Frank X.; Kimble, Danielle C.; Kim, Yonghwan; Lach, Francis P.; Harper, Ursula; Kamat, Aparna; Jones, MaryPat; Sanborn, Erica M.; Tryon, Rebecca; Wagner, John E.; MacMillan, Margaret L.; Ostrander, Elaine A.; Auerbach, Arleen D.; Smogorzewska, Agata; Chandrasekharappa, Settara C.

    2016-01-01

    Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent carried the obligate mutant allele. FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tande...

  6. Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithm.

    Science.gov (United States)

    Lam, Ching-wan; Mak, Chloe Miu

    2013-06-05

    PCR-based technology is indispensable for genetic diagnosis. On the other hand, allele dropout is one significant cause of genotyping errors. Most allele dropout mechanisms are related to annealing failure caused by single nucleotide variant (SNV) situated inside the primer sequences. Here, we demonstrate a novel allele dropout mechanism caused by a non-primer-binding-site SNV. We demonstrate that the apparent homozygosity of NM_000137.1(FAH):c.1035_1037del was caused by allele dropout. The non-primer-binding-site SNV causes a strong secondary hairpin structure formation of the PCR products and leads to amplification failure. SNV check of the primer sequences per se during primer design is not adequate to avoid allele dropout. The next-generation primer design software should analyze the secondary structure of primers and template sequence taking SNV in both sequences into account in order to avoid genotyping errors. Copyright © 2013 Elsevier B.V. All rights reserved.

  7. A simple PCR-RFLP test for direct identification of Melanocortin Receptor 1 (MC1R alleles causing red coat colour in Holstein cattle

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    Alessio Valentini

    2010-01-01

    Full Text Available A direct test to determine the presence of the recessive alleles causing red colour in Holstein cattle at DNA level is proposed.Digestions with two restriction enzymes were used to detect individuals carrying recessive alleles of MelanocortinReceptor 1 (MC1R gene, responsible for coat coloration. Direct sequencing of the PCR products confirmed the identifiedgenotypes. Compared to previously described methods this is an effective, relatively economic and quick method. Thistest could be employed not only to facilitate the detection of polymorphisms in populations but also to exclude animalscarrying alleles resulting in an undesired coat colour from breeding schemes.

  8. Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes.

    Science.gov (United States)

    Challa, Anil K; Boitet, Evan R; Turner, Ashley N; Johnson, Larry W; Kennedy, Daniel; Downs, Ethan R; Hymel, Katherine M; Gross, Alecia K; Kesterson, Robert A

    2016-01-01

    Tyrosinase is a key enzyme in melanin biosynthesis. Mutations in the gene encoding tyrosinase (Tyr) cause oculocutaneous albinism (OCA1) in humans. Alleles of the Tyr gene have been useful in studying pigment biology and coat color formation. Over 100 different Tyr alleles have been reported in mice, of which ≈24% are spontaneous mutations, ≈60% are radiation-induced, and the remaining alleles were obtained by chemical mutagenesis and gene targeting. Therefore, most mutations were random and could not be predicted a priori. Using the CRISPR-Cas9 system, we targeted two distinct regions of exon 1 to induce pigmentation changes and used an in vivo visual phenotype along with heteroduplex mobility assays (HMA) as readouts of CRISPR-Cas9 activity. Most of the mutant alleles result in complete loss of tyrosinase activity leading to an albino phenotype. In this study, we describe two novel in-frame deletion alleles of Tyr, dhoosara (Sanskrit for gray) and chandana (Sanskrit for sandalwood). These alleles are hypomorphic and show lighter pigmentation phenotypes of the body and eyes. This study demonstrates the utility of CRISPR-Cas9 system in generating domain-specific in-frame deletions and helps gain further insights into structure-function of Tyr gene.

  9. Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes.

    Directory of Open Access Journals (Sweden)

    Anil K Challa

    Full Text Available Tyrosinase is a key enzyme in melanin biosynthesis. Mutations in the gene encoding tyrosinase (Tyr cause oculocutaneous albinism (OCA1 in humans. Alleles of the Tyr gene have been useful in studying pigment biology and coat color formation. Over 100 different Tyr alleles have been reported in mice, of which ≈24% are spontaneous mutations, ≈60% are radiation-induced, and the remaining alleles were obtained by chemical mutagenesis and gene targeting. Therefore, most mutations were random and could not be predicted a priori. Using the CRISPR-Cas9 system, we targeted two distinct regions of exon 1 to induce pigmentation changes and used an in vivo visual phenotype along with heteroduplex mobility assays (HMA as readouts of CRISPR-Cas9 activity. Most of the mutant alleles result in complete loss of tyrosinase activity leading to an albino phenotype. In this study, we describe two novel in-frame deletion alleles of Tyr, dhoosara (Sanskrit for gray and chandana (Sanskrit for sandalwood. These alleles are hypomorphic and show lighter pigmentation phenotypes of the body and eyes. This study demonstrates the utility of CRISPR-Cas9 system in generating domain-specific in-frame deletions and helps gain further insights into structure-function of Tyr gene.

  10. Self-(in)compatibility of the almonds P. dulcis and P. webbii: detection and cloning of 'wild-type Sf ' and new self-compatibility alleles encoding inactive S-RNases.

    Science.gov (United States)

    Bosković, Radovan I; Tobutt, Kenneth R; Ortega, Encarnación; Sutherland, Bruce G; Godini, Angelo

    2007-12-01

    Prunus dulcis, the almond, is a predominantly self-incompatible (SI) species with a gametophytic self-incompatibility system mediated by S-RNases. The economically important allele Sf, which results in self-compatibility in P. dulcis, is said to have arisen by introgression from Prunus webbii in the Italian region of Apulia. We investigated the range of self-(in)compatibility alleles in Apulian material of the two species. About 23 cultivars of P. dulcis (14 self-compatible (SC) and nine SI) and 33 accessions of P. webbii (16 SC, two SI and 15 initially of unknown status), all from Apulia, were analysed using PCR of genomic DNA to amplify S-RNase alleles and, in most cases, IEF and staining of stylar protein extracts to detect S-RNase activity. Some amplification products were cloned and sequenced. The allele Sf was present in nearly all the SC cultivars of P. dulcis but, surprisingly, was absent from nearly all SC accessions of P. webbii. And of particular interest was the presence in many SI cultivars of P. dulcis of a new active allele, labelled S30, the sequence of which showed it to be the wild-type of Sf so that Sf can be regarded as a stylar part mutant S30 degrees . These findings indicate Sf may have arisen within P. dulcis, by mutation. One SC cultivar of P. dulcis, 'Patalina', had a new self-compatibility allele lacking RNase activity, Sn5, which could be useful in breeding programmes. In the accessions of P. webbii, some of which were known to be SC, three new alleles were found which lacked RNase activity but had normal DNA sequences.

  11. The late flowering phenotype of fwa mutants is caused by gain-of-function epigenetic alleles of a homeodomain gene

    NARCIS (Netherlands)

    Soppe, W.J.J.; Jacobsen, S.E.; Alonso-Blanco, C.; Jackson, J.P.; Kakutani, T.; Koornneef, M.; Peeters, A.J.M.

    2000-01-01

    The transition to flowering in Arabidopsis thaliana is delayed in fwa mutant plants. FWA was identified by loss-of-function mutations in normally flowering revertants of the fwa mutant, and it encodes a homeodomain-containing transcription factor. The DNA sequence of wild-type and fwa mutant alleles

  12. Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?

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    Tuli, Abbas M; Valenzuela, Robert K; Kamugisha, Erasmus; Brilliant, Murray H

    2012-12-01

    Oculocutaneous albinism type 2 (OCA2) is present at significantly higher frequencies in sub-Saharan African populations compared to populations in other regions of the world. In Tanzania and other sub-Saharan countries, most OCA2 is associated with a common 2.7kb deletion allele. Leprosy is also in high prevalence in sub-Saharan African populations. The infectious agent of leprosy, Mycobacterium leprae, contains a gene, 38L, that is similar to OCA2. Hypopigmented patches of skin are early symptoms that present with infection of leprosy. In consideration of both the genetic similarity of OCA2 and the 38L gene of M. leprae and the involvement of pigmentation in both disorders, we hypothesized that the high rates of OCA2 may be due to heterozygote advantage. Hence, we hypothesized that carriers of the 2.7kb deletion allele of OCA2 may provide a protective advantage from infection with leprosy. We tested this hypothesis by determining the carrier frequency of the 2.7kb deletion allele from a sample of 240 individuals with leprosy from Tanzania. The results were inconclusive due to the small sample size; however, they enabled us to rule out a large protective effect, but perhaps not a small advantage. Mycobacterium tuberculosis is another infectious organism prevalent in sub-Saharan Africa that contains a gene, arsenic-transport integral membrane protein that is also similar to OCA2. Interestingly, chromosomal region 15q11-13, which also contains OCA2, was reported to be linked to tuberculosis susceptibility. Although variants within OCA2 were tested for association, the 2.7kb deletion allele of OCA2 was not tested. This led us to hypothesize that the deletion allele may confer resistance to susceptibility. Confirmation of our hypothesis would enable development of novel pharmocogenetic therapies for the treatment of tuberculosis, which in turn, may enable development of drugs that target other pathogens that utilize a similar infection mechanism as M. tuberculosis

  13. The pandemic of physical inactivity

    DEFF Research Database (Denmark)

    Kohl, Harold W; Craig, Cora Lynn; Lambert, Estelle Victoria

    2012-01-01

    the 1950s, promotion to improve the health of populations has lagged in relation to the available evidence and has only recently developed an identifiable infrastructure, including efforts in planning, policy, leadership and advocacy, workforce training and development, and monitoring and surveillance......Physical inactivity is the fourth leading cause of death worldwide. We summarise present global efforts to counteract this problem and point the way forward to address the pandemic of physical inactivity. Although evidence for the benefits of physical activity for health has been available since...

  14. The Adaptive Change of HLA-DRB1 Allele Frequencies Caused by Natural Selection in a Mongolian Population That Migrated to the South of China.

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    Hao Sun

    Full Text Available Pathogen-driven balancing selection determines the richness of human leukocyte antigen (HLA alleles. Changes in the pathogen spectrum may cause corresponding changes in HLA loci. Approximately 700 years ago, a Mongolian population moved from the north of China to the Yunnan region in the south of China. The pathogen spectrum in the south of China differs from that in the north. In this study, changes in the HLA genes in the Yunnan Mongolian population, as well as the underlying mechanism, were investigated. A sequence-based typing method (SBT was used to genotype HLA-DRB1 in 470 individuals from two Mongolian populations and another five ethnic groups. Meanwhile, 10 autosomal short tandem repeats (STRs were genotyped to assess the influence of genetic background on HLA-DRB1 frequencies. The frequencies of certain alleles changed significantly in the Mongolian population that migrated to Yunnan. For example, DRB1*12:02:01 increased from 6.1% to 35.4%. STR analysis excluded the possibility of a recent bottleneck and indicated that 50% of the genetic consistency between northern and southern Mongolians; Tajima's D value for HLA-DRB1 exon2 and dN/dS analysis showed that the HLA-DRB1 genes in both Mongolian populations were under balancing selection. However, the sites under natural selection changed. We proposed that the dramatically change of HLA frequencies in southern Mongolian was caused by a combination of inter-population gene flow and natural selection. Certain diseases specific to the south of China, such as malaria, may be the driving force behind the enhanced DRB1*12:02:01 frequency.

  15. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

    Science.gov (United States)

    Norman, Chelsea S; O'Gorman, Luke; Gibson, Jane; Pengelly, Reuben J; Baralle, Diana; Ratnayaka, J Arjuna; Griffiths, Helen; Rose-Zerilli, Matthew; Ranger, Megan; Bunyan, David; Lee, Helena; Page, Rhiannon; Newall, Tutte; Shawkat, Fatima; Mattocks, Christopher; Ward, Daniel; Ennis, Sarah; Self, Jay E

    2017-06-30

    Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotypes. OCA1 is the most common cause of albinism in European populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) gene. However, there is a high level of reported missing heritability, where only a single heterozygous mutation is found in TYR. This is also the case for other OCA subtypes including OCA2 caused by mutations in the OCA2 gene. Here we have interrogated the genetic cause of albinism in a well phenotyped, hypomorphic albinism population by sequencing a broad gene panel and performing segregation studies on phenotyped family members. Of eighteen probands we can confidently diagnose three with OA and OCA2, and one with a PAX6 mutation. Of six probands with only a single heterozygous mutation in TYR, all were found to have the two common variants S192Y and R402Q. Our results suggest that a combination of R402Q and S192Y with a deleterious mutation in a 'tri-allelic genotype' can account for missing heritability in some hypomorphic OCA1 albinism phenotypes.

  16. Mono-allelic retrotransposon insertion addresses epigenetic transcriptional repression in human genome.

    Science.gov (United States)

    Byun, Hyang-Min; Heo, Kyu; Mitchell, Kasey J; Yang, Allen S

    2012-02-02

    Retrotransposons have been extensively studied in plants and animals and have been shown to have an impact on human genome dynamics and evolution. Their ability to move within genomes gives retrotransposons to affect genome instability. we examined the polymorphic inserted AluYa5, evolutionary young Alu, in the progesterone receptor gene to determine the effects of Alu insertion on molecular environment. We used mono-allelic inserted cell lines which carry both Alu-present and Alu-absent alleles. To determine the epigenetic change and gene expression, we performed restriction enzyme digestion, Pyrosequencing, and Chromatin Immunoprecipitation. We observed that the polymorphic insertion of evolutionally young Alu causes increasing levels of DNA methylation in the surrounding genomic area and generates inactive histone tail modifications. Consequently the Alu insertion deleteriously inactivates the neighboring gene expression. The mono-allelic Alu insertion cell line clearly showed that polymorphic inserted repetitive elements cause the inactivation of neighboring gene expression, bringing aberrant epigenetic changes.

  17. A novel ABO O allele caused by a large deletion covering two exons of the ABO gene identified in a Caucasian family showing discrepant ABO blood typing results.

    Science.gov (United States)

    Matzhold, Eva M; Drexler, Camilla; Wagner, Thomas

    2016-11-01

    The presence of ABO subgroup alleles and unusual O alleles often is associated with discrepant serologic findings in ABO blood group typing. In the ABO gene of a Caucasian female and her daughters who had aberrant ABO phenotypes, a novel ABO O allele characterized by a large deletion that included two exons was identified. ABO phenotypes were determined by standard agglutination tests and adsorption-elution studies. Allele-specific sequencing analyses of the ABO gene as well as messenger RNA transcripts were carried out. All three samples showed the same discrepant ABO blood typing results lacking A and B antigens, indicating Blood Group O, whereas anti-A1 and anti-A2 isoagglutinins were not detectable in reverse typing. Analyses of the ABO gene revealed a novel allele characterized by a deletion of 2169 base pairs, including sequences of Intron 1, Exon 2, Intron 2, Exon 3, and Intron 3. Exon 1 was directly joined to Exon 4 in the ABO transcript. Because the novel allele was associated with a well-described O allele, the absence of A-antigens in the inherited ABO subtype phenotype may be due to the identified mutation affecting the transmembrane-spanning domain of the encoded protein and impairing the transferase activity. © 2016 AABB.

  18. PHYSICAL (INACTIVITY AND WOMEN

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    Nina Đukanović

    2008-08-01

    Full Text Available Physical activity simply means movement of the body that uses energy. Physical inactivity is more common among women than men. In women physical activity reduces the risk of dying from coronary heart disease and stroke and of developing high blood pressure, diabetes mellitus, reduces blood cholesterol level, helps control weight and reduce body fat, helps control and prevention osteoporosis and artritis, reduces symptoms of anxiety and depression, reduces the risk for breast cancer. From health benefits, physical activity should be moderate or vigorous and add up to at the least 30 minutes a day.

  19. Exercise Responses after Inactivity

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    Convertino, Victor A.

    1986-01-01

    The exercise response after bed rest inactivity is a reduction in the physical work capacity and is manifested by significant decreases in oxygen uptake. The magnitude of decrease in maximal oxygen intake V(dot)O2max is related to the duration of confinement and the pre-bed-rest level of aerobic fitness; these relationships are relatively independent of age and gender. The reduced exercise performance and V(dot)O2max following bed rest are associated with various physiological adaptations including reductions in blood volume, submaximal and maximal stroke volume, maximal cardiac output, sceletal muscle tone and strength, and aerobic enzyme capacities, as well as increases in venous compliance and submaximal and maximal heart rate. This reduction in physiological capacity can be partially restored by specific countermeasures that provide regular muscular activity or orhtostatic stress or both during the bed rest exposure. The understanding of these physiological and physical responses to exercise following bed rest inactivity has important implications for the solution to safety and health problems that arise in clinical medicine, aerospace medicine, sedentary living, and aging.

  20. From inactive to regular jogger

    DEFF Research Database (Denmark)

    Lund-Cramer, Pernille; Brinkmann Løite, Vibeke; Bredahl, Thomas Viskum Gjelstrup

    limited in terms of maintaining a behavior change. The purpose of this study was to investigate individual, cognitive, social, and contextual factors influencing the adoption and maintenance of regular self-organized jogging, and how they were manifested among former inactive adults. Methods A qualitative...... to translate intention into regular behavior. TTM: Informants expressed rapid progression from the pre-contemplation to the action stage caused by an early shift in the decisional balance towards advantages overweighing disadvantages. This was followed by a continuous improvement in self-efficacy, which...... jogging-related self-efficacy, and deployment of realistic goal setting was significant in the achievement of regular jogging behavior. Cognitive factors included a positive change in both affective and instrumental beliefs about jogging. Expectations from society and social relations had limited effect...

  1. Estimating the burden of disease attributable to physical inactivity in ...

    African Journals Online (AJOL)

    Overall in adults 2 15 years in 2000, 30% of ischaemic heart disease, 27% of colon cancer, 22% of ischaemic stroke, 20% of type 2 diabetes, and 17% of breast cancer were attributable to physical inactivity. Physical inactivity was estimated to have caused 17 037 (95% uncertainty interval 11 394 - 20 407), or 3.3% (95% ...

  2. Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro: Pi*ZQ0gaia – Q0gaia allele

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    M.J. Oliveira

    2015-11-01

    Full Text Available Severe alpha-1 antitrypsin deficiency (AATD is generally associated with PI*ZZ genotype and less often with combinations of PI*Z, PI*S, and other rarer deficiency or null (Q0 alleles. Severe AATD predisposes patients to various diseases, including pulmonary emphysema. Presented here is a case report of a young man with COPD and AATD. The investigation of the AATD showed a novel mutation p.Leu263Pro (c.860T>C, which was named Q0gaia (Pi*ZQ0gaia. Q0gaia is associated with very low or no detectable serum concentrations of AAT. Keywords: Alpha-1 antitrypsin deficiency, Null allele, COPD

  3. A temperature-sensitive allele of a putative mRNA splicing helicase down-regulates many cell wall genes and causes radial swelling in Arabidopsis thaliana.

    Science.gov (United States)

    Howles, Paul A; Gebbie, Leigh K; Collings, David A; Varsani, Arvind; Broad, Ronan C; Ohms, Stephen; Birch, Rosemary J; Cork, Ann H; Arioli, Tony; Williamson, Richard E

    2016-05-01

    The putative RNA helicase encoded by the Arabidopsis gene At1g32490 is a homolog of the yeast splicing RNA helicases Prp2 and Prp22. We isolated a temperature-sensitive allele (rsw12) of the gene in a screen for root radial swelling mutants. Plants containing this allele grown at the restrictive temperature showed weak radial swelling, were stunted with reduced root elongation, and contained reduced levels of cellulose. The role of the protein was further explored by microarray analysis. By using both fold change cutoffs and a weighted gene coexpression network analysis (WGCNA) to investigate coexpression of genes, we found that the radial swelling phenotype was not linked to genes usually associated with primary cell wall biosynthesis. Instead, the mutation has strong effects on expression of secondary cell wall related genes. Many genes potentially associated with secondary walls were present in the most significant WGCNA module, as were genes coding for arabinogalactans and proteins with GPI anchors. The proportion of up-regulated genes that possess introns in rsw12 was above that expected if splicing was unrelated to the activity of the RNA helicase, suggesting that the helicase does indeed play a role in splicing in Arabidopsis. The phenotype may be due to a change in the expression of one or more genes coding for cell wall proteins.

  4. Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken.

    Science.gov (United States)

    Xu, J G; Xie, M G; Zou, S Y; Liu, X F; Li, X H; Xie, J F; Zhang, X Q

    2016-04-26

    The Anyi tile-like gray chicken is a Chinese indigenous breed with a gray dilution phenotype, having gray feathers, comb, skin, shanks, and beak, which is valuable for genetic research on pigmentation. However, the genetic basis of the gray dilution phenotype remains unknown. The objective of this study was to investigate the genetic basis of the gray dilution phenotype in the Anyi tile-like gray chicken. We found that all Anyi tile-like gray chickens tested in this study carried at least one E allele, which is responsible for the appearance of black feathers, and some of them carried the FM allele, which is responsible for the black skin phenotype. A single nucleotide polymorphism (C.1909A>G) was identified within the melanophilin (MLPH) gene and was significantly associated with the gray dilution phenotype. Our findings suggest that the E and FM alleles act together to cause the development of the "five-black" phenotype (black feather, comb, skin, shank, and beak), whereas the MLPH mutation results in defective melanosome transport, leading to the development of the "five-gray" phenotype.

  5. PROFILE OF PHYSICAL INACTIVITY AS A RISK FACTOR

    OpenAIRE

    Sanjay; Ram C; Abhay; Vasant

    2014-01-01

    BACKGROUND: Eighty-five percent of the global burden of Non Communicable Diseases (NCD) is borne by the low and middle income countries, like India development. Emergence of NCDs in India is identified by WHO, ICMR and Government of India. NCDs share common risk factors like physical inactivity are causing 3.2 million deaths annually in the world (WHO, 2014). AIMS: Aim was to study profile of physical inactivity for non-communicable diseases. METHODS AND MATERIALS: SET...

  6. Exploring human inactivity in computer power consumption

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    Candrawati, Ria; Hashim, Nor Laily Binti

    2016-08-01

    Managing computer power consumption has become an important challenge in computer society and this is consistent with a trend where a computer system is more important to modern life together with a request for increased computing power and functions continuously. Unfortunately, previous approaches are still inadequately designed to handle the power consumption problem due to unpredictable workload of a system caused by unpredictable human behaviors. This is happens due to lack of knowledge in a software system and the software self-adaptation is one approach in dealing with this source of uncertainty. Human inactivity is handled by adapting the behavioral changes of the users. This paper observes human inactivity in the computer usage and finds that computer power usage can be reduced if the idle period can be intelligently sensed from the user activities. This study introduces Control, Learn and Knowledge model that adapts the Monitor, Analyze, Planning, Execute control loop integrates with Q Learning algorithm to learn human inactivity period to minimize the computer power consumption. An experiment to evaluate this model was conducted using three case studies with same activities. The result show that the proposed model obtained those 5 out of 12 activities shows the power decreasing compared to others.

  7. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

    Science.gov (United States)

    Raykova, Doroteya; Klar, Joakim; Azhar, Aysha; Khan, Tahir Naeem; Malik, Naveed Altaf; Iqbal, Muhammad; Tariq, Muhammad; Baig, Shahid Mahmood; Dahl, Niklas

    2014-01-01

    Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.3. We investigated a consanguineous Pakistani family with AR PHNED linked to the keratin gene cluster on 12p11.1 but without detectable mutations in KRT85 and HOXC13. Whole exome sequencing of affected individuals revealed homozygosity for a rare c.821T>C variant (p.Phe274Ser) in the KRT74 gene that segregates AR PHNED in the family. The transition alters the highly conserved Phe274 residue in the coil 1B domain required for long-range dimerization of keratins, suggesting that the mutation compromises the stability of intermediate filaments. Immunohistochemical (IHC) analyses confirmed a strong keratin-74 expression in the nail matrix, the nail bed and the hyponychium of mouse distal digits, as well as in normal human hair follicles. Furthermore, hair follicles and epidermis of an affected family member stained negative for Keratin-74 suggesting a loss of function mechanism mediated by the Phe274Ser substitution. Our observations show for the first time that homozygosity for a KRT74 missense variant may be associated with AR PHNED. Heterozygous KRT74 mutations have previously been associated with autosomal dominant woolly hair/hypotrichosis simplex (ADWH). Thus, our findings expand the phenotypic spectrum associated with KRT74 mutations and imply that a subtype of AR PHNED is allelic with ADWH.

  8. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

    Directory of Open Access Journals (Sweden)

    Doroteya Raykova

    Full Text Available Pure hair and nail ectodermal dysplasia (PHNED comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.3. We investigated a consanguineous Pakistani family with AR PHNED linked to the keratin gene cluster on 12p11.1 but without detectable mutations in KRT85 and HOXC13. Whole exome sequencing of affected individuals revealed homozygosity for a rare c.821T>C variant (p.Phe274Ser in the KRT74 gene that segregates AR PHNED in the family. The transition alters the highly conserved Phe274 residue in the coil 1B domain required for long-range dimerization of keratins, suggesting that the mutation compromises the stability of intermediate filaments. Immunohistochemical (IHC analyses confirmed a strong keratin-74 expression in the nail matrix, the nail bed and the hyponychium of mouse distal digits, as well as in normal human hair follicles. Furthermore, hair follicles and epidermis of an affected family member stained negative for Keratin-74 suggesting a loss of function mechanism mediated by the Phe274Ser substitution. Our observations show for the first time that homozygosity for a KRT74 missense variant may be associated with AR PHNED. Heterozygous KRT74 mutations have previously been associated with autosomal dominant woolly hair/hypotrichosis simplex (ADWH. Thus, our findings expand the phenotypic spectrum associated with KRT74 mutations and imply that a subtype of AR PHNED is allelic with ADWH.

  9. Aspergillus fumigatus carrying TR34/L98H resistance allele causing complicated suppurative otitis media in Tanzania: Call for improved diagnosis of fungi in sub-Saharan Africa.

    Science.gov (United States)

    Mushi, Martha F; Buname, Gustave; Bader, Oliver; Groß, Uwe; Mshana, Stephen E

    2016-09-02

    Suppurative otitis media (SOM) is a major public health concern worldwide and is associated with increased morbidity. Cases of fungal suppurative otitis media were studied to establish the effect of fungi in otitis media. Ear swabs from 410 patients were collected aseptically using sterile cotton swabs from discharging ear through perforated tympanic membrane. Swabs were subjected to microscopic and culture investigations. The species of fungal growing on Sabouraud's agar were identified using MALDI-TOF MS. For moulds broth micro dilution method following EUCAST guidelines was employed to determine susceptibility patterns against itraconazole, voriconazole and posaconazole. A total of 44 (10.74 %) cases with positive fungal culture growth were studied. The median age of patients with fungal infection was 29.5 (IQR 16-43) years. Of 44 patients; 35 (79.6 %) had pure growth of one type of fungal. Candida albicans was the most common fungus isolated (n = 13; 29.6 %) followed by Aspergillus versicolor (n = 8; 18.2 %). A total of 7 (15.9 %) patients had disease complication at time of enrollment; of them 6 (13.6 %) had hearing loss. On follow up 7 (15.9 %) had poor treatment outcome. All five Aspergillus fumigatus strains resistant itraconazole with reduced susceptibility to voriconazole and posaconazole carried carrying TR34/L98H resistance allele. In addition, all Penicillium citrinum isolates were resistant to voriconazole while all Penicillium sumatrense were resistant to both itraconazole and voriconazole. There were non-significant association of poor treatment outcome and female gender, being HIV positive and being infected with moulds. Fungal infections play a significant role in SOM pathology in our setting. Diagnosis of fungal infections in developing countries should be improved so that appropriate management can be initiated on time to prevent associated complications.

  10. Understanding Female Inactivity in Malta

    Directory of Open Access Journals (Sweden)

    Rose Marie Azzopardi

    2014-12-01

    Full Text Available This empirical study is based in Malta, a small island state with the highest rate of economically inactive women in the European Union (EU. Using a random sample of 402 inactive female homemakers, the responses to a telephone survey revealed that (a this inactive group is motivated by aspects of social and economic well-being and to a lesser extent by aspects of personal and professional development; (b work hindrances include low wages, family responsibilities, and a dependency on social security contributions/benefits; (c the intention to work in the future is significantly associated with work motives, work hindrances, and demographic variables, resulting in an overall holdout accuracy of 84.8%; and (d the respondents would be encouraged to work if there are more supportive/flexible work structures available for working mothers, equal opportunities for women at the workplace, and employment opportunities through in-work benefits that make work pay (particularly for those aged 40+, with limited skills and with low work intensity. The findings are discussed, and the study concludes by providing four policy recommendations aimed at addressing the present shortcomings of the Maltese labor market.

  11. Plasma extracellular superoxide dismutase concentration, allelic variations in the SOD3 gene and risk of myocardial infarction and all-cause mortality in people with type 1 and type 2 diabetes.

    Science.gov (United States)

    Mohammedi, Kamel; Bellili-Muñoz, Naïma; Marklund, Stefan L; Driss, Fathi; Le Nagard, Hervé; Patente, Thiago A; Fumeron, Frédéric; Roussel, Ronan; Hadjadj, Samy; Marre, Michel; Velho, Gilberto

    2015-01-15

    Oxidative stress is involved in development of diabetes complications. Extracellular superoxide dismutase (EC-SOD, SOD3) is a major extracellular antioxidant enzyme and is highly expressed in arterial walls. Advanced oxidation protein products (AOPP) and 8-iso-prostaglandin (isoprostane) are markers of oxidative stress. We investigated association of SOD3 gene variants, plasma concentrations of EC-SOD, AOPP and isoprostane with myocardial infarction and mortality in diabetic patients. We studied three cohorts designed to evaluate the vascular complications of diabetes: the GENEDIAB study (469 participants with type 1 diabetes at baseline; follow-up data for 259 participants), the GENESIS study (603 participants with type 1 diabetes at baseline; follow-up data for 525 participants) and the DIABHYCAR study (3137 participants with type 2 diabetes at baseline and follow-up). Duration of follow-up was 9, 5, and 5 years, respectively. Main outcome measures were incidence of myocardial infarction, and cardiovascular and total mortality during follow-up. Six single nucleotide polymorphisms in the SOD3 locus were genotyped in the three cohorts. Plasma concentrations of EC-SOD, AOPP, and isoprostane were measured in baseline samples of GENEDIAB participants. In GENEDIAB/GENESIS pooled cohorts, the minor T-allele of rs2284659 variant was inversely associated with the prevalence at baseline (Odds Ratio 0.48, 95% CI 0.29-0.78, p = 0.004) and the incidence during follow-up of myocardial infarction (Hazard Ratio 0.58, 95% CI 0.40-0.83, p = 0.003) and with cardiovascular (HR 0.33, 95% CI 0.08-0.74, p = 0.004) and all-cause mortality (HR 0.44, 95% CI 0.21-0.73, p = 0.0006). The protective allele was associated with higher plasma EC-SOD and lower plasma AOPP concentrations in GENEDIAB. It was also inversely associated with incidence of myocardial infarction (HR 0.75, 95% CI 0.59-0.94, p = 0.01) and all-cause mortality (HR 0.87, 95% CI 0.79-0.97, p = 0

  12. Mono-allelic retrotransposon insertion addresses epigenetic transcriptional repression in human genome

    Directory of Open Access Journals (Sweden)

    Byun Hyang-Min

    2012-02-01

    Full Text Available Abstract Background Retrotransposons have been extensively studied in plants and animals and have been shown to have an impact on human genome dynamics and evolution. Their ability to move within genomes gives retrotransposons to affect genome instability. Methods we examined the polymorphic inserted AluYa5, evolutionary young Alu, in the progesterone receptor gene to determine the effects of Alu insertion on molecular environment. We used mono-allelic inserted cell lines which carry both Alu-present and Alu-absent alleles. To determine the epigenetic change and gene expression, we performed restriction enzyme digestion, Pyrosequencing, and Chromatin Immunoprecipitation. Results We observed that the polymorphic insertion of evolutionally young Alu causes increasing levels of DNA methylation in the surrounding genomic area and generates inactive histone tail modifications. Consequently the Alu insertion deleteriously inactivates the neighboring gene expression. Conclusion The mono-allelic Alu insertion cell line clearly showed that polymorphic inserted repetitive elements cause the inactivation of neighboring gene expression, bringing aberrant epigenetic changes.

  13. Inactive ingredient Search for Approved Drug Products

    Data.gov (United States)

    U.S. Department of Health & Human Services — According to 21 CFR 210.3(b)(8), an inactive ingredient is any component of a drug product other than the active ingredient. Only inactive ingredients in the final...

  14. Vascular adaption to physical inactivity in humans

    NARCIS (Netherlands)

    Bleeker, M.W.P.

    2006-01-01

    This thesis presents studies on vascular adaptation to physical inactivity and deconditioning. Although it is clear that physical inactivity is an important risk factor for cardiovascular disease, the underlying physiological mechanisms have not yet been elucidated. In contrast to physical

  15. Vascular adaptation to physical inactivity in humans.

    NARCIS (Netherlands)

    Bleeker, M.W.P.

    2006-01-01

    This thesis presents studies on vascular adaptation to physical inactivity and deconditioning. Although it is clear that physical inactivity is an important risk factor for cardiovascular disease, the underlying physiological mechanisms have not yet been elucidated. In contrast to physical

  16. Health Risks of an Inactive Lifestyle

    Science.gov (United States)

    ... may develop a hormonal imbalance What are the health risks of an inactive lifestyle? Having an inactive ... the more sedentary you are, the higher your health risks are. How can I get started with ...

  17. From inactive to regular jogger

    DEFF Research Database (Denmark)

    Lund-Cramer, Pernille; Brinkmann Løite, Vibeke; Bredahl, Thomas Viskum Gjelstrup

    of Planned Behavior (TPB) and The Transtheoretical Model (TTM). Coding and analysis of interviews were performed using NVivo 10 software. Results TPB: During the behavior change process, the intention to jogging shifted from a focus on weight loss and improved fitness to both physical health, psychological......Title From inactive to regular jogger - a qualitative study of achieved behavioral change among recreational joggers Authors Pernille Lund-Cramer & Vibeke Brinkmann Løite Purpose Despite extensive knowledge of barriers to physical activity, most interventions promoting physical activity have proven...

  18. Social background, bullying, and physical inactivity

    DEFF Research Database (Denmark)

    Henriksen, P W; Rayce, S B; Melkevik, O

    2016-01-01

    More children from lower social backgrounds are physically inactive than those from higher ones. We studied whether bullying was a mediating factor between lower social background and physical inactivity. We also examined the combined effect of low social class and exposure to bullying on physical...... leaves 4.0% in the category physically inactive. The sex and age-adjusted OR (95% CI) for physical inactivity was 2.10 (1.39-3.18) among students with low social class and unclassifiable 3.53 (2.26-5.53). Exposure to bullying was associated with physical inactivity, sex and age-adjusted OR = 2.39 (1.......67-3.41). Exposure to bullying did not explain the association between social class and physical inactivity. The association between social class and physical inactivity was more pronounced among participants also exposed to bullying. In conclusion, there was a significantly increased odds ratio for physical...

  19. Frequencies of two CYP2C19 defective alleles (CYP2C19*2, and *3 among Iranian population in Mazandaran Province

    Directory of Open Access Journals (Sweden)

    Naghi Shahabi-Majd

    2013-02-01

    Conclusion: The result of the present study showed that the two inactive alleles of CYP2C19 accounted for 9.0% of CYP2C19 alleles in our sample versus 8.8 - 40.1% reported in other populations. The frequencies of the studied alleles resulted significant differences between our sample and African and Eastern Asian populations.

  20. Inactive Doses and Protein Concentration of Gamma Irradiated Yersinia Enterocolitica

    International Nuclear Information System (INIS)

    Irawan Sugoro; Sandra Hermanto

    2009-01-01

    Yersinia enterocolitica is one of bacteria which cause coliform mastitis in dairy cows. The bacteria could be inactivated by gamma irradiation as inactivated vaccine candidate. The experiment has been conducted to determine the inactive doses and the protein concentration of Yersinia enterocolitica Y3 which has been irradiated by gamma rays. The cells cultures were irradiated by gamma rays with doses of 0, 100, 200, 400, 600, 800, 1.000 and 1.500 Gy (doses rate was 1089,59 Gy/hours). The inactive dose was determined by the drop test method and the protein concentration of cells were determined by Lowry method. The results showed that the inactive doses occurred on 800 – 1500 Gy. The different irradiation doses of cell cultures showed the effect of gamma irradiation on the protein concentration that was random and has a significant effect on the protein concentration. (author)

  1. A model for predicting Inactivity in the European Banking Sector

    Directory of Open Access Journals (Sweden)

    Themistokles Lazarides

    2015-08-01

    Full Text Available Purpose – The paper will addresses the issue of inactivity and will try to detect its causes using econometric models. The Banking sector of Europe has been under transformation or restructuring for almost half a century. Design/methodology/approach – Probit models and descriptive statistics have been used to create a system that predicts inactivity. The data was collected from Bankscope. Findings – The results of the econometric models show that from the six groups of indicators, four have been found to be statistically important (performance, size, ownership, corporate governance. These findings are consistent with the theory. Research limitations/implications – The limitation is that Bankscope does not provide any longitudinal data regarding ownership, management structure and there are some many missing values before 2007 for some of the financial ratios and data. Originality/value – The paper's value and innovation is that it has given a systemic approach to find indicators of inactivity.

  2. Burden of physical inactivity and hospitalization costs due to chronic diseases

    Science.gov (United States)

    Bielemann, Renata Moraes; da Silva, Bruna Gonçalves Cordeiro; Coll, Carolina de Vargas Nunes; Xavier, Mariana Otero; da Silva, Shana Ginar

    2015-01-01

    OBJECTIVE To evaluate the physical inactivity-related inpatient costs of chronic non-communicable diseases. METHODS This study used data from 2013, from Brazilian Unified Health System, regarding inpatient numbers and costs due to malignant colon and breast neoplasms, cerebrovascular diseases, ischemic heart diseases, hypertension, diabetes, and osteoporosis. In order to calculate the share physical inactivity represents in that, the physical inactivity-related risks, which apply to each disease, were considered, and physical inactivity prevalence during leisure activities was obtained from Pesquisa Nacional por Amostra de Domicílio (Brazil’s National Household Sample Survey). The analysis was stratified by genders and residing country regions of subjects who were 40 years or older. The physical inactivity-related hospitalization cost regarding each cause was multiplied by the respective share it regarded to. RESULTS In 2013, 974,641 patients were admitted due to seven different causes in Brazil, which represented a high cost. South region was found to have the highest patient admission rate in most studied causes. The highest prevalences for physical inactivity were observed in North and Northeast regions. The highest inactivity-related share in men was found for osteoporosis in all regions (≈ 35.0%), whereas diabetes was found to have a higher share regarding inactivity in women (33.0% to 37.0% variation in the regions). Ischemic heart diseases accounted for the highest total costs that could be linked to physical inactivity in all regions and for both genders, being followed by cerebrovascular diseases. Approximately 15.0% of inpatient costs from Brazilian Unified Health System were connected to physical inactivity. CONCLUSIONS Physical inactivity significantly impacts the number of patient admissions due to the evaluated causes and through their resulting costs, with different genders and country regions representing different shares. PMID:26487291

  3. Burden of physical inactivity and hospitalization costs due to chronic diseases

    Directory of Open Access Journals (Sweden)

    Renata Moraes Bielemann

    2015-01-01

    Full Text Available OBJECTIVE To evaluate the physical inactivity-related inpatient costs of chronic non-communicable diseases.METHODS This study used data from 2013, from Brazilian Unified Health System, regarding inpatient numbers and costs due to malignant colon and breast neoplasms, cerebrovascular diseases, ischemic heart diseases, hypertension, diabetes, and osteoporosis. In order to calculate the share physical inactivity represents in that, the physical inactivity-related risks, which apply to each disease, were considered, and physical inactivity prevalence during leisure activities was obtained from Pesquisa Nacional por Amostra de Domicílio(Brazil's National Household Sample Survey. The analysis was stratified by genders and residing country regions of subjects who were 40 years or older. The physical inactivity-related hospitalization cost regarding each cause was multiplied by the respective share it regarded to.RESULTS In 2013, 974,641 patients were admitted due to seven different causes in Brazil, which represented a high cost. South region was found to have the highest patient admission rate in most studied causes. The highest prevalences for physical inactivity were observed in North and Northeast regions. The highest inactivity-related share in men was found for osteoporosis in all regions (≈ 35.0%, whereas diabetes was found to have a higher share regarding inactivity in women (33.0% to 37.0% variation in the regions. Ischemic heart diseases accounted for the highest total costs that could be linked to physical inactivity in all regions and for both genders, being followed by cerebrovascular diseases. Approximately 15.0% of inpatient costs from Brazilian Unified Health System were connected to physical inactivity.CONCLUSIONS Physical inactivity significantly impacts the number of patient admissions due to the evaluated causes and through their resulting costs, with different genders and country regions representing different shares.

  4. Vascular adaption to physical inactivity in humans

    OpenAIRE

    Bleeker, M.W.P.

    2006-01-01

    This thesis presents studies on vascular adaptation to physical inactivity and deconditioning. Although it is clear that physical inactivity is an important risk factor for cardiovascular disease, the underlying physiological mechanisms have not yet been elucidated. In contrast to physical inactivity, exercise decreases the risk for cardiovascular disease. This beneficial effect of exercise is partly due to changes in vascular function and structure. However, far less is known about vascular ...

  5. The physical inactivity matrix: lessons from the classification of physical inactivity interventions.

    Science.gov (United States)

    Kypri, Kypros; Donaldson, Alex; Johnstone, Elizabeth

    2006-05-01

    Physical inactivity (PI), a leading modifiable cause of disease and injury, is endemic in industrialised nations. Although considerable research has been undertaken in this field, we lack a system to synthesise the research literature to inform policy and identify research needs. The aims of this study were to (1) develop a system to classify physical inactivity intervention studies, (2) examine the distribution of PI interventions published in the peer-reviewed health literature using the system, and (3) consider implications for future research. We developed the Physical Inactivity Matrix (PIM), with 12 intervention points, created by the intersection of two dimensions: the intervention target (individual, physical environment and social/cultural environment) and the activity focus (transport, work/school, leisure and consumer). A formal search of the health research literature identified 529 eligible studies and each was classified into one of the 12 cells of the PIM. Most studies were categorised as: individual-leisure (68%), individual-work/school (12%) or social/cultural environment-leisure (13%). Only 4% targeted the physical environment. The findings of this initial application of the PIM support the call for greater investment in policies, interventions and research that focus on the relationship between the environment and PI, and transportation in particular. There would be merit in establishing the inter-rater reliability of the PIM and applying it to a wider variety of studies, including those published in the transportation and urban planning literatures. The PIM could be a useful tool for monitoring trends in research directions and funding levels over time and across countries.

  6. Barren diets increase wakeful inactivity in calves

    NARCIS (Netherlands)

    Webb, Laura E.; Engel, Bas; Reenen, van Kees; Bokkers, Eddie A.M.

    2017-01-01

    Inactivity is a vastly understudied behavioural category, which may reflect positive or negative affective states in captive or domesticated animals. Increased inactivity in barren-housed animals, in combination with an increased or decreased interest in stimuli, e.g. novel objects, can indicate

  7. Administrative Inactivity: Concept and Requirements of Legality

    Directory of Open Access Journals (Sweden)

    Sergey V. Yarkovoy

    2016-07-01

    Full Text Available The general concept of omission in law, as well as the concept and main features of inactivity on the part of executive bodies, other public administration agencies and their officials in their administrative law enforcement are examined, conditions of legality of such inactivity are under study

  8. Patterns of association between environmental quality and physical inactivity vary across the rural-urban continuum

    Science.gov (United States)

    Physical inactivity has been associated with numerous adverse health outcomes including obesity, heart disease, and depression, and is considered a major contributor to all-cause mortality worldwide. Many studies have shown associations between specific environmental features (la...

  9. Autonomic responses to exercise: deconditioning/inactivity.

    Science.gov (United States)

    Hughson, Richard L; Shoemaker, J Kevin

    2015-03-01

    Experimental models of physical inactivity associated with a sedentary lifestyle or extreme forms of inactivity with bed rest or spaceflight affect the balance between parasympathetic and sympathetic nervous system regulation of the cardiovascular system. Deconditioning effects are rapidly seen in the regulation of heart rate to compensate for physical modifications in blood volume and cardiac function. Reflex regulation of cardiovascular control during exercise by metaboreflex and baroreflex is altered by bed rest and spaceflight. These models of extreme inactivity provide a reference to guide physical activity requirements for optimal cardiovascular health. Copyright © 2014 Elsevier B.V. All rights reserved.

  10. ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase

    Directory of Open Access Journals (Sweden)

    Chester M Alan

    2003-11-01

    Full Text Available Abstract Background Since the cloning in 1990 of cDNA corresponding to mRNA transcribed at the blood-group ABO locus, polymorphisms due to ethnic and/or phenotypic variations have been reported. Some subgroups have been explained at the molecular level, but unresolved samples are frequently encountered in the reference laboratory. Results ABO blood grouping discrepancies were investigated serologically and by ABO genotyping [duplex polymerase-chain-reaction (PCR – restriction-fragment-length-polymorphism (RFLP and PCR – allele-specific-primer (ASP across intron 6] and DNA sequencing of the ABO gene and its proposed regulatory elements. Blood samples from five individuals living in Portugal, Switzerland, Sweden and the USA were analysed. These individuals were confirmed to be of Black ethnic origin and had the unusual AweakB phenotype but appeared to have the A2B genotype without previously reported mutations associated with weak A or B expression. Sequencing of this A allele (having 467C>T and 1061delC associated with the common A2 [A201] allele revealed three mutations regularly encountered in the O1v [O02] allele: 106C>T (Val36Phe, 188G>A (Arg63His, 220C>T (Pro74Ser in exons 3, 4 and 5, respectively. The additional presence of 46G>A (Ala16Thr was noted, whilst 189C>T that normally accompanies 188G>A in O1v was missing, as were all O1v-related mutations in exons 6 and 7 (261delG, 297A>G, 646T>A, 681G>A, 771C>T and 829G>A. On screening other samples, 46G>A was absent, but two new O alleles were found, a Jordanian O1 and an African O1v allele having 188G>A but lacking 189C>T. Sequencing of introns 2, 3, 4 and 5 in common alleles (A1 [A101], A2, B [B101], O1, O1vand O2 [O03] revealed 7, 12, 17 and 8 polymorphic positions, respectively, suggesting that alleles could be defined by intronic sequences. These polymorphic sites allowed definition of a breakpoint in intron 5 where the O1v-related sequence was fused with A2 to form the new hybrid

  11. Host microsatellite alleles in malaria predisposition?

    Directory of Open Access Journals (Sweden)

    Trivedi Rajni

    2005-10-01

    Full Text Available Abstract Background Malaria is a serious, sometimes fatal, disease caused by Plasmodium infection of human red blood cells. The host-parasite co-evolutionary processes are well understood by the association of coding variations such as G6PD, Duffy blood group receptor, HLA, and beta-globin gene variants with malaria resistance. The profound genetic diversity in host is attributed to polymorphic microsatellites loci. The microsatellite alleles in bacterial species are known to have aided their survival in fatal environmental conditions. The fascinating question is whether microsatellites are genomic cushion in the human genome to combat disease stress and has cause-effect relationships with infections. Presentation of the hypothesis It is hypothesized that repeat units or alleles of microsatellites TH01 and D5S818, located in close proximity to beta-globin gene and immune regulatory region in human play a role in malaria predisposition. Association of alleles at aforesaid microsatellites with malaria infection was analysed. To overrule the false association in unrecognized population stratification, structure analysis and AMOVA were performed among the sampled groups. Testing of hypothesis Associations of microsatellite alleles with malaria infection were verified using recombination rate, Chi-square, and powerful likelihood tests. Further investigation of population genetic structure, and AMOVA was done to rule out the confounding effects of population stratification in interpretation of association studies. Implication of the hypothesis Lower recombination rate (θ between microsatellites and genes implicated in host fitness; positive association between alleles -13 (D5S818, 9 (TH01 and strong susceptibility to Plasmodium falciparum; and alleles-12 (D5S818 and 6 (TH01 rendering resistance to human host were evident. The interesting fact emerging from the study was that while predisposition to malaria was a prehistoric attribute, among TH01

  12. Effect of physical inactivity on major noncommunicable diseases and life expectancy in Brazil.

    Science.gov (United States)

    de Rezende, Leandro Fornias Machado; Rabacow, Fabiana Maluf; Viscondi, Juliana Yukari Kodaira; Luiz, Olinda do Carmo; Matsudo, Victor Keihan Rodrigues; Lee, I-Min

    2015-03-01

    In Brazil, one-fifth of the population reports not doing any physical activity. This study aimed to assess the impact of physical inactivity on major noncommunicable diseases (NCDs), all-cause mortality and life expectancy in Brazil, by region and sociodemographic profile. We estimated the population attributable fraction (PAF) for physical inactivity associated with coronary heart disease, type 2 diabetes, breast cancer, colon cancer, and all-cause mortality. To calculate the PAF, we used the physical inactivity prevalence from the 2008 Brazilian Household Survey and relative risk data in the literature. In Brazil, physical inactivity is attributable to 3% to 5% of all major NCDs and 5.31% of all-cause mortality, ranging from 5.82% in the southeastern region to 2.83% in the southern region. Eliminating physical inactivity would increase the life expectancy by an average of 0.31 years. This reduction would affect mainly individuals with ≥ 15 years of schooling, male, Asian, elderly, residing in an urban area and earning ≥ 2 times the national minimum wage. In Brazil, physical inactivity has a major impact on NCDs and mortality, principally in the southeastern and central-west regions. Public policies and interventions promoting physical activity will significantly improve the health of the population.

  13. Allele coding in genomic evaluation

    Directory of Open Access Journals (Sweden)

    Christensen Ole F

    2011-06-01

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

  14. Substitution of Aspartate for glycine 1018 in the Type III procollagen (COL3AI) gene causes type IV Ehlers-Danlos Syndrome: The mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother

    Energy Technology Data Exchange (ETDEWEB)

    Kontusaari, S.; Tromp, G.; Kuivaniemi, H.; Prockop, D.J. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Stolle, C. (Robert Wood Johnson Medical School, Piscataway, NJ (United States)); Pope, F.M.

    1992-09-01

    A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino position 1018 to a codon for aspartate. (Amino acid positions are numbered by the standard convention in which the first glycine of the triple-helical domain of an [alpha] chain is number 1. The numbers of positions in the [alpha]1(III) chains can be converted to positions in the human pro[alpha](III) chain by adding 167.). Nucleotide sequencing of overlapping PCR products in which the two alleles were distinguished demonstrated that the mutation of glycine 1018 was the only mutation that changed the primary structure of type III procollagen. The glycine substitution markedly decreased the amount of type III procollagen secreted into the medium by cultured skin fibroblasts from the proband. It is surprising that the same mutation was found in about 94% of the peripheral blood leukocytes from the proband's asymptomatic 72-year-old mother. Other tissues from the mother contained the mutated allele; it was present in 0%-100% of different samples of hair cells and in about 40% of cells from the oral epithelium. Therefore, the mother was a mosaic for the mutation. Since the mutated allele was present in cells derived from all three germ layers, the results indicated that the mutation arose by the late blastocyst stage of development. The results also indicate that assays of blood leukocytes do not always reveal mosaicism or predict phenotypic involvement of tissues, such as blood vessels, that are derived from the same embryonic cells as are leukocytes. 66 refs., 6 figs., 1 tab.

  15. A skin color mutation of grapevine, from black-skinned Pinot Noir to white-skinned Pinot Blanc, is caused by deletion of the functional VvmybA1 allele.

    Science.gov (United States)

    Yakushiji, Hiroshi; Kobayashi, Shozo; Goto-Yamamoto, Nami; Tae Jeong, Soek; Sueta, Tamotsu; Mitani, Nobuhito; Azuma, Akifumi

    2006-06-01

    A white-wine grape, Pinot Blanc, is thought to be a white-skinned mutant of a red-wine grape, Pinot Noir. Pinot Noir was heterozygous for VvmybA1. One allele was the non-functional VvmybA1a, and the other was the functional VvmybA1c. In Pinot Blanc, however, only VvmybA1a was observed, and the amount of VvmybA1 DNA in Pinot Blanc was half that in Pinot Noir. These findings suggest that deletion of VvmybA1c from Pinot Noir resulted in Pinot Blanc.

  16. DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy status

    DEFF Research Database (Denmark)

    Weiner Lachmi, Karin; Lin, Ling; Kornum, Birgitte Rahbek

    2012-01-01

    The association of narcolepsy-cataplexy, a sleep disorder caused by the loss of hypocretin/orexin neurons in the hypothalamus, with DQA1*01:02-DQB1*06:02 is one of the tightest known single-allele human leukocyte antigen (HLA) associations. In this study, we explored genome-wide expression...

  17. RHD alleles in the Tunisian population

    Science.gov (United States)

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

    2013-01-01

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

  18. RHD alleles in the Tunisian population

    Directory of Open Access Journals (Sweden)

    Mouna Ouchari

    2013-01-01

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

  19. 24 CFR 214.200 - Inactive status.

    Science.gov (United States)

    2010-04-01

    ... review. (b) Agencies that seek temporary inactive status must submit a request to HUD in writing... review and notify the agency of approval or rejection, in writing. If approved, the agency's name and contact information will be temporarily removed from the HUD-approved Web list of agencies and the...

  20. Effects of active, inactive and compounded Saccharomyces ...

    African Journals Online (AJOL)

    The objective of this research was to determine the effects of active, inactive and compounded Saccharomyces cerevisiae (SC) as natural feed additives on growth performance, visceral organs weight, insulin, thyroxin and growth hormone of Japanese quails. One day old Japanese quails allocated in 4 treatments by 4 ...

  1. Elective Mutism Associated with Selective Inactivity.

    Science.gov (United States)

    Hill, Linda; Scull, John

    1985-01-01

    Effective treatment procedures for a nine-year-old boy with elective mutism and selective inactivity included increasing the frequency of situations in which he could already speak and decreasing the frequency of those in which he seldom spoke (specifically coercive situations). (CL)

  2. Allele coding in genomic evaluation

    DEFF Research Database (Denmark)

    Standen, Ismo; Christensen, Ole Fredslund

    2011-01-01

    Genomic data are used in animal breeding to assist genetic evaluation. Several models to estimate genomic breeding values have been studied. In general, two approaches have been used. One approach estimates the marker effects first and then, genomic breeding values are obtained by summing marker...... effects. In the second approach, genomic breeding values are estimated directly using an equivalent model with a genomic relationship matrix. Allele coding is the method chosen to assign values to the regression coefficients in the statistical model. A common allele coding is zero for the homozygous...... this centered allele coding. This study considered effects of different allele coding methods on inference. Both marker-based and equivalent models were considered, and restricted maximum likelihood and Bayesian methods were used in inference. \\paragraph*{Results:} Theoretical derivations showed that parameter...

  3. Physical Inactivity, Sedentary Behavior and Chronic Diseases

    OpenAIRE

    Gonz?lez, Karim?; Fuentes, Jorge; M?rquez, Jos? Luis

    2017-01-01

    New research into physical activity suggests that it is no longer sufficient just to meet minimum levels recommended by health guidelines in order to reduce cardiovascular risk. Both physical inactivity and sedentary behavior have their own health hazards and need to be addressed separately, in order to explore their different deleterious mechanisms. The aim of this review was to define and to characterize both concepts, and their relationship with major non-communicable chronic diseases. A P...

  4. Who Are the "Lazy" Ants? The Function of Inactivity in Social Insects and a Possible Role of Constraint: Inactive Ants Are Corpulent and May Be Young and/or Selfish.

    Science.gov (United States)

    Charbonneau, Daniel; Poff, Corey; Nguyen, Hoan; Shin, Min C; Kierstead, Karen; Dornhaus, Anna

    2017-09-01

    Social insect colonies are commonly thought of as highly organized and efficient complex systems, yet high levels of worker inactivity are common. Although consistently inactive workers have been documented across many species, very little is known about the potential function or costs associated with this behavior. Here we ask what distinguishes these "lazy" individuals from their nestmates. We obtained a large set of behavioral and morphological data about individuals, and tested for consistency with the following evolutionary hypotheses: that inactivity results from constraint caused by worker (a) immaturity or (b) senescence; that (c) inactive workers are reproducing; that inactive workers perform a cryptic task such as (d) acting as communication hubs or (e) food stores; and that (f) inactive workers represent the "slow-paced" end of inter-worker variation in "pace-of-life." We show that inactive workers walk more slowly, have small spatial fidelity zones near the nest center, are more corpulent, are isolated in colony interaction networks, have the smallest behavioral repertoires, and are more likely to have oocytes than other workers. These results are consistent with the hypotheses that inactive workers are immature and/or storing food for the colony; they suggest that workers are not inactive as a consequence of senescence, and that they are not acting as communication hubs. The hypotheses listed above are not mutually exclusive, and likely form a "syndrome" of behaviors common to inactive social insect workers. Their simultaneous contribution to inactivity may explain the difficulty in finding a simple answer to this deceptively simple question. Published by Oxford University Press on behalf of the Society for Integrative and Comparative Biology 2017. This work is written by US Government employees and is in the public domain in the US.

  5. Blood Volume Response to Physical Activity and Inactivity

    Science.gov (United States)

    2007-07-01

    deconditioning effects of bed rest inactivity are independent of any disease state. The impor- tance of physical activity on reversing the effects of inactivity...Blood Volume Response to Physical Activity and Inactivity VICTOR A. CONVERTINO, PHD ABSTRACT: Data from both cross-sectional and longitu- dinal...studies provide compelling evidence that circulat- ing blood volume can be influenced by regular physical activity or inactivity. Expansion or contraction

  6. The Global Physical Inactivity Pandemic: An Analysis of Knowledge Production

    Science.gov (United States)

    Piggin, Joe; Bairner, Alan

    2016-01-01

    In July 2012, "The Lancet" announced a pandemic of physical inactivity and a global call to action to effect change. The worldwide pandemic is said to be claiming millions of lives every year. Asserting that physical inactivity is pandemic is an important moment. Given the purported scale and significance of physical inactivity around…

  7. Impact of inactivity and exercise on the vasculature in humans.

    NARCIS (Netherlands)

    Thijssen, D.H.J.; Maiorana, A.J.; O'Driscoll, G.; Cable, N.T.; Hopman, M.T.E.; Green, D.J.

    2010-01-01

    The effects of inactivity and exercise training on established and novel cardiovascular risk factors are relatively modest and do not account for the impact of inactivity and exercise on vascular risk. We examine evidence that inactivity and exercise have direct effects on both vasculature function

  8. Potential clinical translation of juvenile rodent inactivity models to study the onset of childhood obesity

    OpenAIRE

    Roberts, Michael D.; Company, Joseph M.; Brown, Jacob D.; Toedebusch, Ryan G.; Padilla, Jaume; Jenkins, Nathan T.; Laughlin, M. Harold; Booth, Frank W.

    2012-01-01

    According to the latest data from the Center for Disease Control and Prevention 17%, or 12.5 million, of children and adolescents aged 2–19 years in the United States are obese. Physical inactivity is designated as one of the actual causes of US deaths and undoubtedly contributes to the obesity epidemic in children and adults. Examining the effects of inactivity on physiological homeostasis during youth is crucial given that 58% of children between the ages 6–11 yr old fail to obtain the reco...

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

    DEFF Research Database (Denmark)

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

    2002-01-01

    /GCA, MBL variant alleles were associated with signs of increased inflammatory activity and clinical signs of arteritic manifestations. This was not found for HLA-DR4 alleles. These findings indicate that HLA-DR4 and MBL are contributing to the pathophysiology of GCA at different levels in the disease......OBJECTIVE: To determine whether variant alleles of the mannose-binding lectin (MBL) gene causing low serum concentrations of MBL and/or polymorphisms of HLA-DRB1 are associated with increased susceptibility to polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) or particular clinical...... phenotypes of PMR/GCA. METHODS: MBL and HLA-DRB1 alleles were determined by polymerase chain reaction in 102 Danish patients with PMR (n = 37) or GCA (n = 65). Two hundred fifty and 193 healthy individuals served as controls for MBL and HLA genotyping, respectively. RESULTS: The prevalence of MBL variant...

  10. The economic cost of physical inactivity in China.

    Science.gov (United States)

    Zhang, Juan; Chaaban, Jad

    2013-01-01

    To estimate the total economic burden of physical inactivity in China. The costs of physical inactivity combine the medical and non-medical costs of five major Non Communicable Diseases (NCDs) associated with inactivity. The national data from the Chinese Behavioral Risk Factors Surveillance Surveys (2007) and the National Health Service Survey (2003) are used to compute population attributable risks (PARs) of inactivity for each major NCD. Costs specific to inactivity are obtained by multiplying each disease costs by the PAR for each NCD, by incorporating the inactivity effects through overweight and obesity. Physical inactivity contributes between 12% and 19% to the risks associated with the five major NCDs in China, namely coronary heart disease, stroke, hypertension, cancer, and type 2 diabetes. Physical inactivity is imposing a substantial economic burden on the country, as it is responsible alone for more than 15% of the medical and non-medical yearly costs of the main NCDs in the country. The high economic burden of physical inactivity implies the need to develop more programs and interventions that address this modifiable behavioral risk, in order to curb the rising NCDs epidemic in China. Copyright © 2012 Elsevier Inc. All rights reserved.

  11. FRAXA and FRAXE: Evidence against segregation distortion and for an effect of intermediate alleles on learning disability

    OpenAIRE

    Teague, J. W.; Morton, N. E.; Dennis, N. R.; Curtis, G.; McKechnie, N.; Macpherson, J. N.; Murray, A.; Pound, M. C.; Sharrock, A. J.; Youings, S. A.; Jacobs, P. A.

    1998-01-01

    There have been several claims of segregation distortion (meiotic drive) for loci associated with diseases caused by trinucleotide repeats, leading us to test for this phenomenon in a large study of the X-linked loci FRAXA and FRAXE. We found no evidence of meiotic drive in females and no convincing evidence in males, where the limitation of risk to daughters creates a testing bias for alleles of interest. Alleles for pre- and full mutation, intermediate alleles, and common alleles were analy...

  12. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

    OpenAIRE

    Yrigollen, Carolyn M; Martorell, Loreto; Durbin-Johnson, Blythe; Naudo, Montserrat; Genoves, Jordi; Murgia, Alessandra; Polli, Roberta; Zhou, Lili; Barbouth, Deborah; Rupchock, Abigail; Finucane, Brenda; Latham, Gary J; Hadd, Andrew; Berry-Kravis, Elizabeth; Tassone, Flora

    2014-01-01

    Background The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. Methods To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of...

  13. Physical inactivity, depression, and risk of cardiovascular mortality

    NARCIS (Netherlands)

    Kamphuis, M.H.; Geerlings, M.I.; Tijhuis, M.A.R.; Giampaoli, S.; Nissinen, A.; Grobbee, D.E.; Kromhout, D.

    2007-01-01

    Purpose: Studies indicate that depression may increase risk of cardiovascular disease (CVD) in addition to classical risk factors. One of the hypotheses to explain this relation is that depressed subjects become physically inactive. We set out to determine the role of physical inactivity in the

  14. Physical inactivity and muscle oxidative capacity in humans

    DEFF Research Database (Denmark)

    Gram, Martin; Dahl, Rannvá; Dela, Flemming

    2014-01-01

    literature on the effects of different models of inactivity on muscle oxidative capacity in humans. Effects of physical inactivity include decreased mitochondrial content, decreased activity of oxidative enzymes, changes in markers of oxidative stress and a decreased expression of genes and contents...

  15. Physical inactivity and associated factors in chronic disease patients ...

    African Journals Online (AJOL)

    Physical inactivity and associated factors in chronic disease patients in Cambodia, Myanmar and Vietnam. ... Several factors were identified which may assist in programmes to promote physical activity in this population. Keywords: Physical inactivity, risk factors, chronic disease patients, Cambodia, Myanmar, Vietnam ...

  16. A common allele on chromosome 9 associated with coronary heartdisease

    Energy Technology Data Exchange (ETDEWEB)

    McPherson, Ruth; Pertsemlidis, Alexander; Kavaslar, Nihan; Stewart, Alexandre; Roberts, Robert; Cox, David R.; Hinds, David; Pennachio, Len; Tybjaerg-Hansen, Anne; Folsom, Aaron R.; Boerwinkle,Eric; Hobbs, Helen H.; Cohen, Jonathan C.

    2007-03-01

    Coronary heart disease (CHD) is a major cause of death in Western countries. Here we used genome-wide association scanning to identify a 58 kb interval on chromosome 9 that was consistently associated with CHD in six independent samples. The interval contains no annotated genes and is not associated with established CHD risk factors such as plasma lipoproteins, hypertension or diabetes. Homozygotes for the risk allele comprise 20-25% of Caucasians and have a {approx}30-40% increased risk of CHD. These data indicate that the susceptibility allele acts through a novel mechanism to increase CHD risk in a large fraction of the population.

  17. Allele specific expression in worker reproduction genes in the bumblebee Bombus terrestris

    Directory of Open Access Journals (Sweden)

    Harindra E. Amarasinghe

    2015-07-01

    Full Text Available Methylation has previously been associated with allele specific expression in ants. Recently, we found methylation is important in worker reproduction in the bumblebee Bombus terrestris. Here we searched for allele specific expression in twelve genes associated with worker reproduction in bees. We found allele specific expression in Ecdysone 20 monooxygenase and IMP-L2-like. Although we were unable to confirm a genetic or epigenetic cause for this allele specific expression, the expression patterns of the two genes match those predicted for imprinted genes.

  18. A hypomorphic Cbx3 allele causes prenatal growth restriction and ...

    Indian Academy of Sciences (India)

    2015-04-27

    Apr 27, 2015 ... reduced mRNA transcripts for genes involved in growth regulation, amino acid and glucose transport. Blood vessels within the .... one half was frozen on dry ice for nucleic acid or protein extraction, while the other ...... composition of brown adipose tissue as related to nutrition during the neonatal period in ...

  19. A hypomorphic Cbx3 allele causes prenatal growth restriction and ...

    Indian Academy of Sciences (India)

    There is a 10-fold reduction in expression of the BAT-specific Ucp1 gene, whose product is responsible for non-shivering themogenesis. We suggest that it is the small size of the Cbx3hypo/hypo neonates, a likely consequence of placental growth and transport defects, combined with a possible inability to thermoregulate ...

  20. A hypomorphic Cbx3 allele causes prenatal growth restriction and ...

    Indian Academy of Sciences (India)

    ... Charité-Universitätsmedizin Berlin, Charitéplatz 1, D-10117 Berlin, Germany; Albert-Ludwigs-Universität Freiburg, BIOSS Centre for Biological Signalling Studies, Schänzlestrasse 18, 79104 Freiburg, Germany; School of Natural Sciences and Psychology, Liverpool John Moores University, Byrom Street, Liverpool L3 3AF ...

  1. Factors Associated with Physical Inactivity among Adult Urban Population of Puducherry, India: A Population Based Cross-sectional Study.

    Science.gov (United States)

    Newtonraj, Ariarathinam; Murugan, Natesan; Singh, Zile; Chauhan, Ramesh Chand; Velavan, Anandan; Mani, Manikandan

    2017-05-01

    Physical inactivity is the fourth leading cause of death worldwide. Increase in physical activity decreases the incidence of cardiovascular diseases, Type 2 diabetes, stroke, and improves psychological wellbeing. To study the level of physical inactivity among the adult population in an urban area of Puducherry in India and its associated risk factors. This cross-sectional study was conducted among 569 adult participants from an urban area of Pondicherry. The level of physical inactivity was measured by using WHO standard Global Physical Activity Questionnaire (GPAQ). Overall prevalence of physical inactivity in our study was 49.7% (CI: 45.6-53.8). Among the physically active people, contribution of physical activity by work was 77.4%, leisure time activities were 11.6% and transport time was 11%. Both men and women were equally inactive {Physically inactive among women was 50% (CI:44.1-55.9)} and {Physically inactive among men was 49.5% (CI:43.8-55.2)}. Prevalence of physical inactivity was increasing with increasing age. Non tobacco users were two times more active than tobacco users {Adjusted Odds Ratio: 2.183 (1.175- 4.057)}. Employed were more active as compared to retired {Adjusted Odds Ratio: 0.412 (0.171-0.991)}, students {Adjusted Odds Ratio: 0.456 (0.196-1.060)}, house wives {Adjusted Odds Ratio: 0.757 (0.509-1.127)} and unemployed {Adjusted Odds Ratio: 0.538 (0.271-1.068)}. Non alcoholics were only 0.34 times as active as alcoholics. Level of physical activity was found to be insufficient among adult urban population of Puducherry. Working adult population found to be active, that too due to their work pattern. There is a need to promote leisure time and travelling time physical activity.

  2. Physical inactivity, insulin resistance, and the oxidative-inflammatory loop.

    Science.gov (United States)

    Gratas-Delamarche, A; Derbré, F; Vincent, S; Cillard, J

    2014-01-01

    Epidemiological data indicate that physical inactivity, a main factor of global energetic imbalance, is involved in the worldwide epidemic of obesity and metabolic disorders such as insulin resistance. Although the complex pathogenesis of insulin resistance is not fully understood, literature data accumulated during the past decades clearly indicate that the activation of the oxidative-inflammatory loop plays a major role. By activating the oxidative-inflammatory loop in insulin-sensitive tissues, fat gain and adipose tissue dysfunction likely contribute to induce insulin resistance during chronic and prolonged physical inactivity. However, in the past years, evidence has emerged showing that early insulin resistance also occurs after very short-term exposure to physical inactivity (1-7 days) without any fat gain or energetic imbalance. The possible role of liver disturbances or endothelial dysfunction is suggested, but further studies are necessary to really conclude. Inactive skeletal muscle probably constitutes the primary triggering tissue for the development of early insulin resistance. In the present review, we discuss on the current knowledge about the effect of physical inactivity on whole-body and peripheral insulin sensitivity, and how local inflammation and oxidative stress arising with physical inactivity could potentially induce insulin resistance. We assume that early muscle insulin resistance allows the excess nutrients to shift in the storage tissues to withstand starvation through energy storage. We also consider when chronic and prolonged, physical inactivity over an extended period of time is an underestimated contributor to pathological insulin resistance and hence indirectly to numerous chronic diseases.

  3. An optimization on strontium separation model for fission products (inactive trace elements) using artificial neural networks

    International Nuclear Information System (INIS)

    Moosavi, K.; Setayeshi, S.; Maragheh, M.Gh.; Ahmadi, S.J.; Kardan, M.R.; Banaem, L.M.

    2009-01-01

    In this study, an experimental design using artificial neural networks for an optimization on the strontium separation model for fission products (inactive trace elements) is investigated. The goal is to optimize the separation parameters to achieve maximum amount of strontium that is separated from the fission products. The result of the optimization method causes a proper purity of Strontium-89 that was separated from the fission products. It is also shown that ANN may be establish a method to optimize the separation model.

  4. Effects of exercise and inactivity on intravascular volume and cardiovascular control mechanisms

    Science.gov (United States)

    Convertino, Victor A.

    Exercise, inactivity and confinement have been used as effective tools to assess the contributions of vascular volume and baroreflexes to orthostatic hypotension associated with exposure to microgravity. Prolonged exposure to bedrest, physical inactivity, or wheelchair confinement removes baroreceptor unloading caused by regular upright standing and induces attenuation of cardiovascular baroreflex responses. The magnitude of reduced baroreflex sensitivity following bedrest or wheelchair confinement is related to the degree of orthostatic hypotension. Reduction in vascular volume caused by bedrest or progressive hypovolemia does not affect carotid-cardiac baroreflex function. In contrast, intense exercise that increases arterial baroreceptor loading causes an acute increase in carotid baroreceptor sensitivity and has been associated with enhanced orthostatic stability following exposure to simulated microgravity. Endurance exercise training designed to enhance orthostatic stability was associated with increased blood volume and vasoconstrictive reserve, but no change in the carotid baroreflex response. Therefore, using models of exercise, inactivity and confinement, integrated and redundant roles for vascular volume and cardiovascular baroreflexes have been demonstrated as probable underlying mechanisms that contribute independently to the development of orthostatic hypotension following spaceflight. These data suggest that loading of arterial baroreceptors may be necessary to maintain baroreflex function.

  5. Recommendations and interventions to decrease physical inactivity at work

    NARCIS (Netherlands)

    Commissaris, D.; Douwes, M.

    2014-01-01

    Many contemporary work tasks, e.g. at an office workplace, are characterised by physical inactivity and by long periods of uninterrupted sitting. These characteristics increase the risk of several health problems, among others obesity, cardiovascular disorders, diabetes, cancer, musculoskeletal

  6. Impact of inactivity and exercise on the vasculature in humans.

    Science.gov (United States)

    Thijssen, Dick H J; Maiorana, Andrew J; O'Driscoll, Gerry; Cable, Nigel T; Hopman, Maria T E; Green, Daniel J

    2010-03-01

    The effects of inactivity and exercise training on established and novel cardiovascular risk factors are relatively modest and do not account for the impact of inactivity and exercise on vascular risk. We examine evidence that inactivity and exercise have direct effects on both vasculature function and structure in humans. Physical deconditioning is associated with enhanced vasoconstrictor tone and has profound and rapid effects on arterial remodelling in both large and smaller arteries. Evidence for an effect of deconditioning on vasodilator function is less consistent. Studies of the impact of exercise training suggest that both functional and structural remodelling adaptations occur and that the magnitude and time-course of these changes depends upon training duration and intensity and the vessel beds involved. Inactivity and exercise have direct "vascular deconditioning and conditioning" effects which likely modify cardiovascular risk.

  7. Chronic recreational physical inactivity and epithelial ovarian cancer risk

    DEFF Research Database (Denmark)

    Cannioto, Rikki; LaMonte, Michael J.; Risch, Harvey A

    2016-01-01

    , weekly recreational physical activity were classified as inactive. Multivariable logistic regression was utilized to estimate the ORs and 95% confidence intervals (CI) for the association between inactivity and EOC risk overall and by subgroups based upon histotype, menopausal status, race, and body mass......Background: Despite a large body of literature evaluating the association between recreational physical activity and epithelial ovarian cancer (EOC) risk, the extant evidence is inconclusive, and little is known about the independent association between recreational physical inactivity and EOC risk....... We conducted a pooled analysis of nine studies from the Ovarian Cancer Association Consortium to investigate the association between chronic recreational physical inactivity and EOC risk. Methods: In accordance with the 2008 Physical Activity Guidelines for Americans, women reporting no regular...

  8. An update on HLA alleles associated with adverse drug reactions.

    Science.gov (United States)

    Fricke-Galindo, Ingrid; LLerena, Adrián; López-López, Marisol

    2017-05-24

    Adverse drug reactions (ADRs) are considered as an important cause of morbidity and mortality. The hypersensitivity reactions are immune-mediated ADRs, which are dose-independent, unpredictable and have been associated with several HLA alleles. The present review aimed to describe HLA alleles that have been associated with different ADRs in populations worldwide, the recommendations of regulatory agencies and pharmacoeconomic information and databases for the study of HLA alleles in pharmacogenetics. A systematic search was performed in June 2016 of articles relevant to this issue in indexed journals and in scientific databases (PubMed and PharmGKB). The information of 95 association studies found was summarized. Several HLA alleles and haplotypes have been associated with ADRs induced mainly by carbamazepine, allopurinol, abacavir and nevirapine, among other drugs. Years with the highest numbers of publications were 2013 and 2014. The majority of the reports have been performed on Asians and Caucasians, and carbamazepine was the most studied ADR drug inducer. Two HLA alleles' databases are described, as well as the recommendations of the U.S. Food and Drug Administration, the European Medicine Agency and the Clinical Pharmacogenetics Implementation Consortium. Pharmacoeconomic studies on this issue are also mentioned. The strongest associations remain for HLA-B*58:01, HLA-B*57:01, HLA-B*15:02 and HLA-A*31:01 but only in certain populations; therefore, studies on different ethnic groups would be useful. Due to the improvement of drug therapy and the economic benefit that HLA screening represents, investigations on HLA alleles associated with ADR should continue.

  9. Distribution of a pseudodeficiency allele among Tay-Sachs carriers

    Energy Technology Data Exchange (ETDEWEB)

    Tomczak, J.; Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Boogen, C. (Univ. of Essen Medical School (Germany))

    1993-08-01

    Recently Triggs-Raine et al. (1992) identified a new mutation in the gene coding for the [alpha]-subunit of [beta]-hexosaminidase A (hex A), the enzyme whose deficiency causes Tay-Sachs disease. This mutation, a C[sub 739]-to-T transition in exon 7, results in an altered enzyme that is active (albeit at reduced levels) in cells but that has essentially no activity in serum. This so-called pseudodeficient allele was first detected in compound heterozygotes who also carried a Tay-Sachs disease allele and therefore had no detectable hex A in their serum but who were in good health. Carriers of this apparently benign mutation are generally indistinguishable from carriers of a lethal mutation by means of routine enzyme-based screening tests, because the product of the pseudodeficient allele is not detectable in serum and has decreased activity in cells. This suggests that some individuals who have been classified as Tay-Sachs carriers are actually carriers of the pseudodeficient allele and are not at risk to have a child affected with Tay-Sachs disease. The pseudodeficient allele may also be responsible for some inconclusive diagnoses, where leukocyte values fall below the normal range but are still above the carrier range. The fact that there are now two mutant alleles (the psuedodeficient and the adult) that are indistinguishable from the lethal infantile mutations by means of enzyme assay yet that are phenotypically very different and that together may account for as much as 12% of enzyme-defined carriers on the basis of the data here suggests that DNA analysis should be part of a comprehensive screening program. It will be particularly useful to identify the mutations in couples at risk, before they undergo prenatal diagnosis. DNA analysis will also resolve some inconclusive diagnoses.

  10. The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene

    DEFF Research Database (Denmark)

    Kølvraa, S; Gregersen, N; Blakemore, A I

    1991-01-01

    RFLP haplotypes in the region containing the medium-chain acyl-CoA dehydrogenase (MCAD) gene on chromosome 1 have been determined in patients with MCAD deficiency. The RFLPs were detected after digestion of patient DNA with the enzymes BanII. PstI and TaqI and with an MCAD cDNA-clone as a probe....... Of 32 disease-causing alleles studied, 31 possessed the previously published A----G point-mutation at position 985 of the cDNA. This mutation has been shown to result in inactivity of the MCAD enzyme. In at least 30 of the 31 alleles carrying this G985 mutation a specific RFLP haplotype was present...

  11. Home Delivery Medicament Program: access, inactivity and cardiovascular risk.

    Science.gov (United States)

    Araújo, Roque da Silva; Arcuri, Edna Apparecida Moura; Lopes, Victor Cauê

    2016-10-10

    to verify causes of inactivity in the Home Delivery Medicament Program, as referred by users from a Primary Health Care Service in São Paulo, comparing them to the causes registered in the program and analyzing them in the theoretical model Concept of Access to Health. cross-sectional study, interviewing 111 inactive users; and documentary study in the program records. half of the users did not know the condition of inactivity. Discrepancies were found between the user's and the program's information, observing different levels of agreement: Absence of physician and administrative staff member 0%; Transfer to other service 25%; Death 50%; Option to quit 50%; Address change 57% and Change in therapeutic schedule 80%. The users' feeling of accepting the program was observed. In the health access concept, inactivity can be explained in the information dimension, in the degree of asymmetry between the patient's and the health professional's knowledge, identified through the indicators: education, knowledge and information sources. due to the low education level, the user does not assimilate the information on the steps of the program flowchart, does not return for the assessment that guarantees its continuity. Consequently, (s)he stops receiving the medication and spends a long time without treatment, increasing the cardiovascular risk of hypertensive (92% of the sample), diabetic (44%) and dyslipidemic patients (31%). verificar causas de inatividade no Programa Remédio em Casa, referidas por usuários de Unidade Básica de Saúde de São Paulo, comparando-as às registradas pelo programa e analisando-as no modelo teórico Conceito de Acesso à Saúde. estudo transversal entrevistando 111 usuários inativos; e documental, nos registros do programa. metade dos usuários desconhecia a condição de inatividade. Constatadas discrepâncias nas informações usuário versus programa, observando-se diferentes níveis de concordância: Falta de médico e funcion

  12. Experiential versus genetic accounts of inactivity: implications for inactive individuals' self-efficacy beliefs and intentions to exercise.

    Science.gov (United States)

    Beauchamp, Mark R; Rhodes, Ryan E; Kreutzer, Christiane; Rupert, James L

    2011-01-01

    The overall purpose of this study was to examine the effect of deterministic media reports, linking genetics to inactivity, in relation to inactive people's social cognitions concerning physical activity involvement. Sixty three inactive university students were randomly allocated to one of three experimental conditions (control, genetically-primed, experientially-primed) and completed measures of instrumental and affective attitudes, subjective norms, self-efficacy, and exercise intentions. One week later participants in the two experimental conditions were provided with a bogus newspaper report that either reflected a genetic explanation for physical inactivity or an experiential basis for inactivity. Shortly afterwards, participants in all three conditions completed the same measures as at pre-test. The results revealed that after controlling for baseline measures participants in the experientially-primed condition reported significantly higher levels of self-efficacy and intentions to exercise than those in the genetically-primed condition. These findings raise a cautionary flag concerning the presentation of genetic research in the media, especially with regard to inactive populations.

  13. Hypermethylated SUPERMAN epigenetic alleles in arabidopsis.

    Science.gov (United States)

    Jacobsen, S E; Meyerowitz, E M

    1997-08-22

    Mutations in the SUPERMAN gene affect flower development in Arabidopsis. Seven heritable but unstable sup epi-alleles (the clark kent alleles) are associated with nearly identical patterns of excess cytosine methylation within the SUP gene and a decreased level of SUP RNA. Revertants of these alleles are largely demethylated at the SUP locus and have restored levels of SUP RNA. A transgenic Arabidopsis line carrying an antisense methyltransferase gene, which shows an overall decrease in genomic cytosine methylation, also contains a hypermethylated sup allele. Thus, disruption of methylation systems may yield more complex outcomes than expected and can result in methylation defects at known genes. The clark kent alleles differ from the antisense line because they do not show a general decrease in genomic methylation.

  14. Multifragment alleles in DNA fingerprints of the parrot, Amazona ventralis

    Science.gov (United States)

    Brock, M.K.; White, B.N.

    1991-01-01

    Human DNA probes that identify variable numbers of tandem repeat loci are being used to generate DNA fingerprints in many animal and plant species. In most species the majority of the sc rable autoradiographic bands of the DNA fingerprint represent alleles from numerous unlinked loci. This study was initiated to use DNA fingerprints to determine the amount of band-sharing among captive Hispaniolan parrots (Amazona ventralis) with known genetic relationships. This would form the data base to examine DNA fingerprints of the closely related and endangered Puerto Rican parrot (A. vittata) and to estimate the degree of inbreeding in the relic population. We found by segregation analysis of the bands scored in the DNA fingerprints of the Hispaniolan parrots that there may be as few as two to five loci identified by the human 33.15 probe. Furthermore, at one locus we identified seven alleles, one of which is represented by as many as 19 cosegregating bands. It is unknown how common multiband alleles might be in natural populations, and their existence will cause problems in the assessment of relatedness by band-sharing analysis. We believe, therefore, that a pedigree analysis should be included in all DNA fingerprinting studies, where possible, in order to estimate the number of loci identified by a minisatellite DNA probe and to examine the nature of their alleles.

  15. Prevalence and factors associated with physical inactivity among Malaysian adults.

    Science.gov (United States)

    Ying, Chanying; Kuay, Lim Kuang; Huey, Teh Chien; Hock, Lim Kuang; Hamid, Hamizatul Akmal Abd; Omar, Mohd Azahadi; Ahmad, Noor Ani; Cheong, Kee Chee

    2014-03-01

    Using data from the Third National Health and Morbidity Survey (NHMS III) in 2006, this study examined the association between socio-demographic factors and physical inactivity in a sample of 33,949 adults aged 18 years and above by gender. Physical activity levels were measured using the Global Physical Activity Questionnaire (GPAQ vers 1). Physical inactivity was defined as having a total physical activity level of less than 600 metabolic equivalents-minutes per week (METs-minutes/week) contributed by all three different life domains.Logistic regression analyses were conducted.The prevalence of overall physical inactivity was 43.7% (95% CI: 42.9-44.5). The mean total physical activity level was 894.2 METs-minutes/ week. The means METs-minutes/week for the domain of work, travelling, and leisure time were 518.4, 288.1, and 134.8, respectively. Multivariable logistic regression analyses indicated that females were more likely to be physically inactive than males were (aOR=1.62; 95% CI: 1.53-1.72). Among women, being a housewife (aOR = 1.78; 95% CI: 1.56-2.03), widow/divorcee (aOR = 1.23; 95% CI: 1.05-1.43), and those with no formal education (aOR = 1.20; 95% CI: 1.01-1.43) were found to be significantly associated with physical inactivity.Urban residents, older adults aged 65 years and above, private employees, nonworking group, and those with a monthly household income level of MYR5,000 and above appeared to be consistently associated with physical inactivity across men, women, and combined group (both). Specific health intervention strategies to promote physical activity should be targeted on population subgroups who are inactive.

  16. Association studies using family pools of outcrossing crops based on allele-frequency estimates from DNA sequencing

    DEFF Research Database (Denmark)

    Ashraf, Bilal; Jensen, Just; Asp, Torben

    2014-01-01

    from sequence read-counts for mapping. We show that, under additivity assumptions, there is a linear relationship between the family phenotype and family allele frequency, and that a regression of family phenotype on family allele frequency will estimate twice the allele substitution effect at a locus....... However, medium-to-low sequencing depth causes underestimation of the true allele substitution effect. An expression for this underestimation is derived for the case that parents are diploid, such that F2 families have up to four dosages of every allele. Using simulation studies, estimation of the allele...... effect from F2-family pools was verified and it was shown that the underestimation of the allele effect is correctly described. The optimal design for an association study when sequencing budget would be fixed is obtained using large sample size and lower sequence depth, and using higher SNP density...

  17. HLA Class I Allele Frequencies in Southern Iranian Women with Breast Cancer.

    Science.gov (United States)

    Razmkhah, Mahboobeh; Ghaderi, Abbas

    2013-02-01

    Breast cancer is the leading cause of cancer-related death in women worldwide. It has been revealed that elevated risk for malignancy may be associated with certain HLA alleles. This study was performed to assess the association of HLA class I alleles with breast cancer in women in Southern Iran. Eighty nine patients included for analyzing the HLA class I alleles frequency using complement dependent cytotoxicity microassay and results were compared to 86 gender-matched healthy volunteers. There were significantly more patients with A24(9) allele than those of healthy individuals (38.2% versus 16.3%) (P-value=0.002). In contrast, HLA-A1 had significantly much less expression in the patient group compared to the controls (P- value=0.04). A24(9) allele appears to be one of the factors increasing an individual's the susceptibility to breast cancer in our population but further investigation might be required.

  18. Effects of physical activity and inactivity on muscle fatigue

    Directory of Open Access Journals (Sweden)

    Gregory C. Bogdanis

    2012-05-01

    Full Text Available The aim of this review was to examine the mechanisms by which physical activity and inactivity modify muscle fatigue. It is well known that acute or chronic increases in physical activity result in structural, metabolic, hormonal, neural and molecular adaptations that increase the level of force or power that can be sustained by a muscle. These adaptations depend on the type, intensity and volume of the exercise stimulus, but recent studies have highlighted the role of high intensity, short duration exercise as a time-efficient method to achieve both anaerobic and aerobic/endurance type adaptations. The factors that determine the fatigue profile of a muscle during intense exercise include muscle fibre composition, neuromuscular characteristics high energy metabolite stores, buffering capacity, ionic regulation, capillarization and mitochondrial density. Muscle fiber type transformation during exercise training is usually towards the intermediate type IIA at the expense of both type I and type IIx myosin heavy chain isoforms. High intensity training results in increases of both glycolyic and oxidative enzymes, muscle capilarization, improved phosphocreatine resynthesis and regulation of K+, H+ and lactate ions. Decreases of the habitual activity level due to injury or sedentary lifestyle result in partial or even compete reversal of the adaptations due to previous training, manifested by reductions in fibre cross-sectional area, decreased oxidative capacity and capillarization. Complete immobilization due to injury results in markedly decreased force output and fatigue resistance. Muscle unloading reduces electromyographic activity and causes muscle atrophy and significant decreases in capillarization and oxidative enzymes activity. The last part of the review discusses the beneficial effects of intermittent high intensity exercise training in patients with different health conditions to demonstrate the powerful effect exercise on health and well

  19. Effects of Physical Activity and Inactivity on Muscle Fatigue

    Science.gov (United States)

    Bogdanis, Gregory C.

    2012-01-01

    The aim of this review was to examine the mechanisms by which physical activity and inactivity modify muscle fatigue. It is well known that acute or chronic increases in physical activity result in structural, metabolic, hormonal, neural, and molecular adaptations that increase the level of force or power that can be sustained by a muscle. These adaptations depend on the type, intensity, and volume of the exercise stimulus, but recent studies have highlighted the role of high intensity, short-duration exercise as a time-efficient method to achieve both anaerobic and aerobic/endurance type adaptations. The factors that determine the fatigue profile of a muscle during intense exercise include muscle fiber composition, neuromuscular characteristics, high energy metabolite stores, buffering capacity, ionic regulation, capillarization, and mitochondrial density. Muscle fiber-type transformation during exercise training is usually toward the intermediate type IIA at the expense of both type I and IIx myosin heavy-chain isoforms. High-intensity training results in increases of both glycolytic and oxidative enzymes, muscle capillarization, improved phosphocreatine resynthesis and regulation of K+, H+, and lactate ions. Decreases of the habitual activity level due to injury or sedentary lifestyle result in partial or even compete reversal of the adaptations due to previous training, manifested by reductions in fiber cross-sectional area, decreased oxidative capacity, and capillarization. Complete immobilization due to injury results in markedly decreased force output and fatigue resistance. Muscle unloading reduces electromyographic activity and causes muscle atrophy and significant decreases in capillarization and oxidative enzymes activity. The last part of the review discusses the beneficial effects of intermittent high-intensity exercise training in patients with different health conditions to demonstrate the powerful effect of exercise on health and well being. PMID

  20. Novel alleles of 31-bp VNTR polymorphism in the human ...

    Indian Academy of Sciences (India)

    We report here for the first time, the detection of allele 20, which was absent in Caucasian and Indo–Caucasoid populations, as a common allele present in Singaporean Chinese (6.25%), Indians (11.7%), and Malays (11.5%). Hence, allele 20 might be a specific allele for Asian populations. A relatively common allele 19 ...

  1. Assessing compliance: Active versus inactive trainees in a memory intervention

    Directory of Open Access Journals (Sweden)

    Dana K Bagwell

    2008-06-01

    Full Text Available Dana K Bagwell, Robin L WestDepartment of Psychology, University of Florida, Gainesville, FL, USAAbstract: Extensive research on memory interventions has confirmed their success with older adults, but the individual difference factors that predict successful training outcomes remain relatively unexplored. In the current intervention, trainees were identified as active (compliant with training regimens or inactive using trainer ratings based on attendance, homework completion, and class participation. The active group showed significantly greater training-related gains than the inactive group and the control group on most measures. Compliance was predicted by health, education, and self-efficacy. Specifically, active trainees were more likely to have advanced degrees and somewhat higher self-efficacy, and to have higher vitality and fewer functional limitations than the inactive trainees. This research may assist future investigators to target interventions to those who will show the most benefit.Keywords: compliance, memory training, aging, intervention

  2. Environmental condition and impact of inactive uranium mines

    International Nuclear Information System (INIS)

    Hans, J.M. Jr.; Eadie, G.E.; O'Connell, M.F.

    1981-01-01

    The US Environmental Protection Agency (EPA) was required to provide a report to Congress identifying the location, and potential health, safety and environmental hazards of uranium mine wastes together with recommendations, if any, for a program to eliminate the hazards. The approach taken to prepare this report was to develop model active and inactive mines and locate them in a typical mining area to estimate their environmental impact. The inactive mines were separated from the list and sorted into surface and underground categories. A literature search was conducted to obtain and consolidate available information concerning the environmental aspects of uranium mining and short-term field surveys and studies were conducted to augment this information base. Radioactivity emission rates were measured or estimated for each mining category and were entered into computer codes to assess population exposures and subsequent health risks. The general environmental condition of inactive uranium mines was determined by walk-through surveys in several mining areas

  3. Substrate Capture Assay Using Inactive Oligopeptidases to Identify Novel Peptides.

    Science.gov (United States)

    Rioli, Vanessa; Ferro, Emer S

    2018-01-01

    Researchers are always searching for novel biologically active molecules including peptides. With the improvement of equipment for electrospray mass spectrometry, it is now possible to identify hundreds of novel peptides in a single run. However, after identifying the peptide sequences it is expensive to synthesize all the peptides to perform biological activity assays. Here, we describe a substrate capture assay that uses inactive oligopeptidases to identify putative biologically active peptides in complexes peptide mixtures. This methodology can use any crude extracts of biological tissues or cells, with the advantage to introduce a filter (i.e., binding to an inactive oligopeptidase) as a prior step in screening to bioactive peptides.

  4. The economic benefits of reducing physical inactivity: an Australian example.

    Science.gov (United States)

    Cadilhac, Dominique A; Cumming, Toby B; Sheppard, Lauren; Pearce, Dora C; Carter, Rob; Magnus, Anne

    2011-09-24

    Physical inactivity has major impacts on health and productivity. Our aim was to estimate the health and economic benefits of reducing the prevalence of physical inactivity in the 2008 Australian adult population. The economic benefits were estimated as 'opportunity cost savings', which represent resources utilized in the treatment of preventable disease that are potentially available for re-direction to another purpose from fewer incident cases of disease occurring in communities. Simulation models were developed to show the effect of a 10% feasible, reduction target for physical inactivity from current Australian levels (70%). Lifetime cohort health benefits were estimated as fewer incident cases of inactivity-related diseases; deaths; and Disability Adjusted Life Years (DALYs) by age and sex. Opportunity costs were estimated as health sector cost impacts, as well as paid and unpaid production gains and leisure impacts from fewer disease events associated with reduced physical inactivity. Workforce production gains were estimated by comparing surveyed participation and absenteeism rates of physically active and inactive adults, and valued using the friction cost approach. The impact of an improvement in health status on unpaid household production and leisure time were modeled from time use survey data, as applied to the exposed and non-exposed population subgroups and valued by suitable proxy. Potential costs associated with interventions to increase physical activity were not included. Multivariable uncertainty analyses and univariate sensitivity analyses were undertaken to provide information on the strength of the conclusions. A 10% reduction in physical inactivity would result in 6,000 fewer incident cases of disease, 2,000 fewer deaths, 25,000 fewer DALYs and provide gains in working days (114,000), days of home-based production (180,000) while conferring a AUD96 million reduction in health sector costs. Lifetime potential opportunity cost savings in

  5. The economic benefits of reducing physical inactivity: an Australian example

    Directory of Open Access Journals (Sweden)

    Cumming Toby B

    2011-09-01

    Full Text Available Abstract Background Physical inactivity has major impacts on health and productivity. Our aim was to estimate the health and economic benefits of reducing the prevalence of physical inactivity in the 2008 Australian adult population. The economic benefits were estimated as 'opportunity cost savings', which represent resources utilized in the treatment of preventable disease that are potentially available for re-direction to another purpose from fewer incident cases of disease occurring in communities. Methods Simulation models were developed to show the effect of a 10% feasible, reduction target for physical inactivity from current Australian levels (70%. Lifetime cohort health benefits were estimated as fewer incident cases of inactivity-related diseases; deaths; and Disability Adjusted Life Years (DALYs by age and sex. Opportunity costs were estimated as health sector cost impacts, as well as paid and unpaid production gains and leisure impacts from fewer disease events associated with reduced physical inactivity. Workforce production gains were estimated by comparing surveyed participation and absenteeism rates of physically active and inactive adults, and valued using the friction cost approach. The impact of an improvement in health status on unpaid household production and leisure time were modeled from time use survey data, as applied to the exposed and non-exposed population subgroups and valued by suitable proxy. Potential costs associated with interventions to increase physical activity were not included. Multivariable uncertainty analyses and univariate sensitivity analyses were undertaken to provide information on the strength of the conclusions. Results A 10% reduction in physical inactivity would result in 6,000 fewer incident cases of disease, 2,000 fewer deaths, 25,000 fewer DALYs and provide gains in working days (114,000, days of home-based production (180,000 while conferring a AUD96 million reduction in health sector costs

  6. Dark Streaks Over-riding Inactive Dunes

    Science.gov (United States)

    2000-01-01

    Not all sand dunes on Mars are active in the modern martian environment. This example from the Lycus Sulci (Olympus Mons'aureole') region shows a case where small windblown dunes at the base of a slope have been over-ridden by more recent dark streaks (arrows). The dark streaks are most likely caused by what geologists call mass wasting or mass movement (landslides and avalanches are mass movements). Dark slope streaks such as these are common in dustier regions of Mars, and they appear to result from movement of extremely dry dust or sand in an almost fluidlike manner down a slope. This movement disrupts the bright dust coating on the surface and thus appears darker than the surrounding terrain.In this case, the dark slope streaks have moved up and over the dunes at the bottom of the slope, indicating that the process that moves sediment down the slope is more active (that is, it has occurred more recently and hence is more likely to occur) in the modern environment than is the movement of dunes and ripples at this location on Mars. The dunes, in fact, are probably mantled by dust. This October 1997 Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) picture is illuminated from the left and located near 31.6oN, 134.0oW.

  7. Nucleotide variation and identification of novel blast resistance alleles of Pib by allele mining strategy.

    Science.gov (United States)

    Ramkumar, G; Madhav, M S; Devi, S J S Rama; Prasad, M S; Babu, V Ravindra

    2015-04-01

    Pib is one of significant rice blast resistant genes, which provides resistance to wide range of isolates of rice blast pathogen, Magnaporthe oryzae. Identification and isolation of novel and beneficial alleles help in crop enhancement. Allele mining is one of the best strategies for dissecting the allelic variations at candidate gene and identification of novel alleles. Hence, in the present study, Pib was analyzed by allele mining strategy, and coding and non-coding (upstream and intron) regions were examined to identify novel Pib alleles. Allelic sequences comparison revealed that nucleotide polymorphisms at coding regions affected the amino acid sequences, while the polymorphism at upstream (non-coding) region affected the motifs arrangements. Pib alleles from resistant landraces, Sercher and Krengosa showed better resistance than Pib donor variety, might be due to acquired mutations, especially at LRR region. The evolutionary distance, Ka/Ks and phylogenetic analyzes also supported these results. Transcription factor binding motif analysis revealed that Pib (Sr) had a unique motif (DPBFCOREDCDC3), while five different motifs differentiated the resistance and susceptible Pib alleles. As the Pib is an inducible gene, the identified differential motifs helps to understand the Pib expression mechanism. The identified novel Pib resistant alleles, which showed high resistance to the rice blast, can be used directly in blast resistance breeding program as alternative Pib resistant sources.

  8. Comparison of HLA allelic imputation programs.

    Directory of Open Access Journals (Sweden)

    Jason H Karnes

    Full Text Available Imputation of human leukocyte antigen (HLA alleles from SNP-level data is attractive due to importance of HLA alleles in human disease, widespread availability of genome-wide association study (GWAS data, and expertise required for HLA sequencing. However, comprehensive evaluations of HLA imputations programs are limited. We compared HLA imputation results of HIBAG, SNP2HLA, and HLA*IMP:02 to sequenced HLA alleles in 3,265 samples from BioVU, a de-identified electronic health record database coupled to a DNA biorepository. We performed four-digit HLA sequencing for HLA-A, -B, -C, -DRB1, -DPB1, and -DQB1 using long-read 454 FLX sequencing. All samples were genotyped using both the Illumina HumanExome BeadChip platform and a GWAS platform. Call rates and concordance rates were compared by platform, frequency of allele, and race/ethnicity. Overall concordance rates were similar between programs in European Americans (EA (0.975 [SNP2HLA]; 0.939 [HLA*IMP:02]; 0.976 [HIBAG]. SNP2HLA provided a significant advantage in terms of call rate and the number of alleles imputed. Concordance rates were lower overall for African Americans (AAs. These observations were consistent when accuracy was compared across HLA loci. All imputation programs performed similarly for low frequency HLA alleles. Higher concordance rates were observed when HLA alleles were imputed from GWAS platforms versus the HumanExome BeadChip, suggesting that high genomic coverage is preferred as input for HLA allelic imputation. These findings provide guidance on the best use of HLA imputation methods and elucidate their limitations.

  9. Local Adaptation by Alleles of Small Effect.

    Science.gov (United States)

    Yeaman, Sam

    2015-10-01

    Population genetic models predict that alleles with small selection coefficients may be swamped by migration and will not contribute to local adaptation. But if most alleles contributing to standing variation are of small effect, how does local adaptation proceed? Here I review predictions of population and quantitative genetic models and use individual-based simulations to illustrate how the architecture of local adaptation depends on the genetic redundancy of the trait, the maintenance of standing genetic variation (V(G)), and the susceptibility of alleles to swamping. Even when population genetic models predict swamping for individual alleles, considerable local adaptation can evolve at the phenotypic level if there is sufficient V(G). However, in such cases the underlying architecture of divergence is transient: F(ST) is low across all loci, and no locus makes an important contribution for very long. Because this kind of local adaptation is mainly due to transient frequency changes and allelic covariances, these architectures will be difficult--if not impossible--to detect using current approaches to studying the genomic basis of adaptation. Even when alleles are large and resistant to swamping, architectures can be highly transient if genetic redundancy and mutation rates are high. These results suggest that drift can play a critical role in shaping the architecture of local adaptation, both through eroding V(G) and affecting the rate of turnover of polymorphisms with redundant phenotypic effects.

  10. Physical Inactivity as a Predictor of High Prevalence of Hypertension ...

    African Journals Online (AJOL)

    Logistic and multiple linear regression models were used to calculate the risk of prevalent hypertension in physically inactive individuals and examine the association between physical activity and healthcare expenditure after controlling for confounders. Results: Hypertensive patients who were physically active accounted ...

  11. Physical Inactivity, Obesity, and Type 2 Diabetes: An Evolutionary Perspective

    Science.gov (United States)

    Eaton, S. Boyd; Eaton, Stanley B.

    2017-01-01

    Physical inactivity (and unhealthy nutrition) has distorted body composition and, in turn, reordered the proportions of myocyte and adipocyte insulin receptors. Insulin acting on adipocyte receptors produces less glucose uptake than does comparable interaction with myocyte receptors. Accordingly, in individuals with disproportionate muscle/fat…

  12. Motor proficiency and physical fitness in active and inactive girls ...

    African Journals Online (AJOL)

    In modern day society physical activity levels diminish rapidly among girls and may be a direct consequence of girls experiencing motor difficulties. Therefore the aim of the study was to compare motor proficiency levels and physical fitness levels among active and inactive girls (N=97), aged 12 to 13 years. The BOTMP ...

  13. Prevalence, social and health correlates of physical inactivity among ...

    African Journals Online (AJOL)

    Individuals who had high social capital (OR: 0.69, CI: 0.60, 0.79) were less likely to be physically inactive than those with low social capital. Several sociodemographic (older age, female, higher education and urban residence) and health risk (such as overweight, weak grip strength, functional disability, and low fruit and ...

  14. The Body Image Of Physically Active And Inactive Women

    Directory of Open Access Journals (Sweden)

    Guszkowska Monika

    2015-06-01

    Full Text Available Introduction. The aim of the study was to compare the image of the body, the level of its acceptance and satisfaction with it, as well as anxiety about one’s physical appearance and overall self-esteem in a group of adult women who did fitness exercise and those who were physically inactive.

  15. Inactive nurses: a source for alleviating the nursing shortage?

    Science.gov (United States)

    Williams, Kimberly A; Stotts, R Craig; Jacob, Susan R; Stegbauer, Cheryl C; Roussel, Linda; Carter, Donna

    2006-04-01

    This study seeks to provide an understanding of why inactive registered nurses chose to become inactive and what they would require for them to return to nursing. In 2000, a shortage of 110,000 (6%) registered nurses existed in the United States. If the current trends continue, the shortage is projected to grow to 29% by 2020. One solution to the nursing shortage may be attracting nurses with inactive licenses back into employment. This study used a quantitative, cross-sectional survey design. Data analysis included descriptive and inferential statistics. Inactive nurses (N = 428) younger than 60 years in 1 Southern state were surveyed. A major portion (27.6%) of these nurses left nursing because of a conflict between parenting duties and scheduling requirements (13.5%) at work and indicated that they would return to nursing if given the opportunity to work part-time, especially if shifts were flexible and shorter. Although the group of registered nurses younger than 60 years do not constitute a large percentage of nurses in this country, they are a potential source of alleviating, to some extent, the critical nursing shortage. Employers can encourage many of these nurses to return to work by providing more flexible work schedules, including part-time and shorter shifts, as well as decreased workloads.

  16. Automatic Detection of Inactive Solar Cell Cracks in Electroluminescence Images

    DEFF Research Database (Denmark)

    Spataru, Sergiu; Hacke, Peter; Sera, Dezso

    2017-01-01

    We propose an algorithm for automatic determination of the electroluminescence (EL) signal threshold level corresponding to inactive solar cell cracks, resulting from their disconnection from the electrical circuit of the cell. The method enables automatic quantification of the cell crack size an...

  17. Effects of probiotic (live and inactive Saccharomyces cerevisiae ) on ...

    African Journals Online (AJOL)

    The present work evaluated the effect of probiotic (live and inactive Saccharomyces cerevisiae) on meat and intestinal microbial properties of Japanese quails. Twenty-four (24) 1-day-old Japanese quails were obtained from a commercial hatchery. The birds were randomly divided into 2 groups. The dietary treatments ...

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

    Directory of Open Access Journals (Sweden)

    Carol A Soderlund

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

  19. Muscle activity and inactivity periods during normal daily life.

    Directory of Open Access Journals (Sweden)

    Olli Tikkanen

    Full Text Available Recent findings suggest that not only the lack of physical activity, but also prolonged times of sedentary behaviour where major locomotor muscles are inactive, significantly increase the risk of chronic diseases. The purpose of this study was to provide details of quadriceps and hamstring muscle inactivity and activity during normal daily life of ordinary people. Eighty-four volunteers (44 females, 40 males, 44.1±17.3 years, 172.3±6.1 cm, 70.1±10.2 kg were measured during normal daily life using shorts measuring muscle electromyographic (EMG activity (recording time 11.3±2.0 hours. EMG was normalized to isometric MVC (EMG(MVC during knee flexion and extension, and inactivity threshold of each muscle group was defined as 90% of EMG activity during standing (2.5±1.7% of EMG(MVC. During normal daily life the average EMG amplitude was 4.0±2.6% and average activity burst amplitude was 5.8±3.4% of EMG(MVC (mean duration of 1.4±1.4 s which is below the EMG level required for walking (5 km/h corresponding to EMG level of about 10% of EMG(MVC. Using the proposed individual inactivity threshold, thigh muscles were inactive 67.5±11.9% of the total recording time and the longest inactivity periods lasted for 13.9±7.3 min (2.5-38.3 min. Women had more activity bursts and spent more time at intensities above 40% EMG(MVC than men (p<0.05. In conclusion, during normal daily life the locomotor muscles are inactive about 7.5 hours, and only a small fraction of muscle's maximal voluntary activation capacity is used averaging only 4% of the maximal recruitment of the thigh muscles. Some daily non-exercise activities such as stair climbing produce much higher muscle activity levels than brisk walking, and replacing sitting by standing can considerably increase cumulative daily muscle activity.

  20. Mortality and years of life lost by colorectal cancer attributable to physical inactivity in Brazil (1990-2015): Findings from the Global Burden of Disease Study.

    Science.gov (United States)

    Silva, Diego Augusto Santos; Tremblay, Mark Stephen; Souza, Maria de Fatima Marinho de; Mooney, Meghan; Naghavi, Mohsen; Malta, Deborah Carvalho

    2018-01-01

    The aims of this study were to estimate all-cause and cause-specific mortality and years of life lost, investigated by disability-adjusted life-years (DALYs), due to colorectal cancer attributable to physical inactivity in Brazil and in the states; to analyze the temporal trend of these estimates over 25 years (1990-2015) compared with global estimates and according to the socioeconomic status of states of Brazil. Databases from the Global Burden of Disease Study (GBD) for Brazil, Brazilian states and global information were used. It was estimated the total number and the age-standardized rates of deaths and DALYs for colorectal cancer attributable to physical inactivity in the years 1990 and 2015. We used the Socioeconomic Development Index (SDI). Physical inactivity was responsible for a substantial number of deaths (1990: 1,302; 2015: 119,351) and DALYs (1990: 31,121; 2015: 87,116) due to colorectal cancer in Brazil. From 1990 to 2015, the mortality and DALYs due to colorectal cancer attributable to physical inactivity increased in Brazil (0.6% and 0.6%, respectively) and decreased around the world (-0.8% and -1.1%, respectively). The Brazilian states with better socioeconomic indicators had higher rates of mortality and morbidity by colorectal cancer due to physical inactivity (pBrazil. Over 25 years, the Brazilian population showed more worrisome results than around the world. Actions to combat physical inactivity and greater cancer screening and treatment are urgent in the Brazilian states.

  1. Allelic expression changes in Medaka (Oryzias latipes hybrids between inbred strains derived from genetically distant populations.

    Directory of Open Access Journals (Sweden)

    Yasuhiko Murata

    Full Text Available Variations in allele expressions between genetically distant populations are one of the most important factors which affects their morphological and physiological variations. These variations are caused by natural mutations accumulated in their habitats. It has been reported that allelic expression differences in the hybrids of genetically distant populations are different from parental strains. In that case, there is a possibility that allelic expression changes lead to novel phenotypes in hybrids. Based on genomic information of the genetically distant populations, quantification and comparison of allelic expression changes make importance of regulatory sequences (cis-acting factors or upstream regulatory factors (trans-acting modulators for these changes clearer. In this study, we focused on two Medaka inbred strains, Hd-rR and HNI, derived from genetically distant populations and their hybrids. They are highly polymorphic and we can utilize whole-genome information. To analyze allelic expression changes, we established a method to quantify and compare allele-specific expressions of 11 genes between the parental strains and their reciprocal hybrids. In intestines of reciprocal hybrids, allelic expression was either similar or different in comparison with the parental strains. Total expressions in Hd-rR and HNI were tissue-dependent in the case of HPRT1, with high up-regulation of Hd-rR allele expression in liver. The proportion of genes with differential allelic expression in Medaka hybrids seems to be the same as that in other animals, despite the high SNP rate in the genomes of the two inbred strains. It is suggested that each tissue of the strain difference in trans-acting modulators is more important than polymorphisms in cis-regulatory sequences in producing the allelic expression changes in reciprocal hybrids.

  2. COURAGE AND FEAR IN THE CONTEXT OF OPPOSITION OF HUMAN ACTIVITY AND INACTIVITY: EXISTENTIAL ASPECT

    Directory of Open Access Journals (Sweden)

    Dmytro Yu. Snitko

    2013-12-01

    Full Text Available The purpose of the article is to analyse fear and courage in the history of philosophy in the context of opposi-tion of human activity and inactivity that may lead to a profound understanding of the essence, causes and existen-tial aspects of human activity and inactivity. The implementation of the objective assumes the solution of the follow-ing tasks: analysis of philosophical interpretation of fear and courage; investigation of the relationship of fear and courage with active and passive forms of human being; revelation of existential dialectic of human activity and inac-tivity through the opposition of fear and courage. Methodology. The application of phenomenological approach and other methods of existential philosophy enabled to discover the importance of fear and courage for human existence. Significant contribution to the importance of the investigation of the fear-courage opposition in the context of hu-man activity and inactivity was made by M. Heidegger who pointed to the main modes of human being - «authen-tic» and «inauthentic» in the context of human activity and passivity. The application of hermeneutic method made possible the reconstruction of the reflection of fear-courage opposition in the history of philosophy. Scientific nov-elty. For the first time the analysis of the fear-courage opposition in the context of human activity and inactivity was carried out. Due to the analysis the fundamental existential character of the fear and courage opposition and its es-sential relationship with active and passive forms of human being were justified. Conclusions. In the course of this research it was found out that fear is closely connected with passive modes of human being. If classical philosophy placed emphasis on courage and associated fear with human mind and conscious decision, non-classical philosophy of the XIX century and existentialism focused on existential and ontological character of fear, its fundamental mean

  3. ASElux: An Ultra-Fast and Accurate Allelic Reads Counter.

    Science.gov (United States)

    Miao, Zong; Alvarez, Marcus; Pajukanta, Päivi; Ko, Arthur

    2017-11-23

    Mapping bias causes preferential alignment to the reference allele, forming a major obstacle in allele-specific expression (ASE) analysis. The existing methods, such as simulation and SNP-aware alignment, are either inaccurate or relatively slow. To fast and accurately count allelic reads for ASE analysis, we developed a novel approach, ASElux, which utilizes the personal SNP information and counts allelic reads directly from unmapped RNA-sequence (RNA-seq) data. ASElux significantly reduces runtime by disregarding reads outside single nucleotide polymorphisms (SNPs) during the alignment. When compared to other tools on simulated and experimental data, ASElux achieves a higher accuracy on ASE estimation than non-SNP-aware aligners and requires a much shorter time than the benchmark SNP-aware aligner, GSNAP with just a slight loss in performance. ASElux can process 40 million read-pairs from an RNA-sequence (RNA-seq) sample and count allelic reads within 10 minutes, which is comparable to directly counting the allelic reads from alignments based on other tools. Furthermore, processing an RNA-seq sample using ASElux in conjunction with a general aligner, such as STAR, is more accurate and still ∼4X faster than STAR+WASP, and ∼33X faster than the lead SNP-aware aligner, GSNAP, making ASElux ideal for ASE analysis of large-scale transcriptomic studies. We applied ASElux to 273 lung RNA-seq samples from GTEx and identified a splice-QTL rs11078928 in lung which explains the mechanism underlying an asthma GWAS SNP rs11078927. Thus, our analysis demonstrated ASE as a highly powerful complementary tool to cis-expression quantitative trait locus (eQTL) analysis. The software can be downloaded from https://drive.google.com/open?id=0B7E7HSjQ-SumQmlPc1Z0aUR5Sk0. a5ko@ucla.edu (Arthur Ko), zmiao@ucla.edu (Zong Miao). Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions

  4. Variation in the Gender Gap in Inactive and Active Life Expectancy by the Definition of Inactivity Among Older Adults.

    Science.gov (United States)

    Malhotra, Rahul; Chan, Angelique; Ajay, Shweta; Ma, Stefan; Saito, Yasuhiko

    2016-10-01

    To assess variation in gender gap (female-male) in inactive life expectancy (IALE) and active life expectancy (ALE) by definition of inactivity. Inactivity, among older Singaporeans, was defined as follows: Scenario 1-health-related difficulty in activities of daily living (ADLs); Scenario 2-health-related difficulty in ADLs/instrumental ADLs (IADLs); Scenario 3-health-related difficulty in ADLs/IADLs or non-health-related non-performance of IADLs. Multistate life tables computed IALE and ALE at age 60, testing three hypotheses: In all scenarios, life expectancy, absolute and relative IALE, and absolute ALE are higher for females (Hypothesis 1 [H1]); gender gap in absolute and relative IALE expands, and in absolute ALE, it contracts in Scenario 2 versus 1 (Hypothesis 2 [H2]); gender gap in absolute and relative IALE decreases, and in absolute ALE, it increases in Scenario 3 versus 2 (Hypothesis 3 [H3]). H1 was supported in Scenarios 1 and 3 but not Scenario 2. Both H2 and H3 were supported. Definition of inactivity influences gender gap in IALE and ALE. © The Author(s) 2016.

  5. FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.

    Science.gov (United States)

    Teague, J W; Morton, N E; Dennis, N R; Curtis, G; McKechnie, N; Macpherson, J N; Murray, A; Pound, M C; Sharrock, A J; Youings, S A; Jacobs, P A

    1998-01-20

    There have been several claims of segregation distortion (meiotic drive) for loci associated with diseases caused by trinucleotide repeats, leading us to test for this phenomenon in a large study of the X-linked loci FRAXA and FRAXE. We found no evidence of meiotic drive in females and no convincing evidence in males, where the limitation of risk to daughters creates a testing bias for alleles of interest. Alleles for pre- and full mutation, intermediate alleles, and common alleles were analyzed separately, with the same negative results that are extended in the discussion to claims of meiotic drive for other diseases. On the other hand, an excess risk of learning difficulties was confirmed for intermediate FRAXA alleles (relative risk, 2.58 +/- .74) and suggested for intermediate FRAXE alleles. The penetrance of learning difficulty is low, the risk being estimated as .039 for FRAXA common alleles and .101 for intermediate alleles. Because of their lower gene frequency, full mutations are a less frequent cause of learning difficulty than intermediate alleles, which contribute .0020 to total prevalence and .0012 to attributable prevalence of learning difficulty.

  6. Asynchronous replication, mono-allelic expression, and long range Cis-effects of ASAR6.

    Science.gov (United States)

    Donley, Nathan; Stoffregen, Eric P; Smith, Leslie; Montagna, Christina; Thayer, Mathew J

    2013-04-01

    Mammalian chromosomes initiate DNA replication at multiple sites along their length during each S phase following a temporal replication program. The majority of genes on homologous chromosomes replicate synchronously. However, mono-allelically expressed genes such as imprinted genes, allelically excluded genes, and genes on female X chromosomes replicate asynchronously. We have identified a cis-acting locus on human chromosome 6 that controls this replication-timing program. This locus encodes a large intergenic non-coding RNA gene named Asynchronous replication and Autosomal RNA on chromosome 6, or ASAR6. Disruption of ASAR6 results in delayed replication, delayed mitotic chromosome condensation, and activation of the previously silent alleles of mono-allelic genes on chromosome 6. The ASAR6 gene resides within an ∼1.2 megabase domain of asynchronously replicating DNA that is coordinated with other random asynchronously replicating loci along chromosome 6. In contrast to other nearby mono-allelic genes, ASAR6 RNA is expressed from the later-replicating allele. ASAR6 RNA is synthesized by RNA Polymerase II, is not polyadenlyated, is restricted to the nucleus, and is subject to random mono-allelic expression. Disruption of ASAR6 leads to the formation of bridged chromosomes, micronuclei, and structural instability of chromosome 6. Finally, ectopic integration of cloned genomic DNA containing ASAR6 causes delayed replication of entire mouse chromosomes.

  7. Asynchronous replication, mono-allelic expression, and long range Cis-effects of ASAR6.

    Directory of Open Access Journals (Sweden)

    Nathan Donley

    2013-04-01

    Full Text Available Mammalian chromosomes initiate DNA replication at multiple sites along their length during each S phase following a temporal replication program. The majority of genes on homologous chromosomes replicate synchronously. However, mono-allelically expressed genes such as imprinted genes, allelically excluded genes, and genes on female X chromosomes replicate asynchronously. We have identified a cis-acting locus on human chromosome 6 that controls this replication-timing program. This locus encodes a large intergenic non-coding RNA gene named Asynchronous replication and Autosomal RNA on chromosome 6, or ASAR6. Disruption of ASAR6 results in delayed replication, delayed mitotic chromosome condensation, and activation of the previously silent alleles of mono-allelic genes on chromosome 6. The ASAR6 gene resides within an ∼1.2 megabase domain of asynchronously replicating DNA that is coordinated with other random asynchronously replicating loci along chromosome 6. In contrast to other nearby mono-allelic genes, ASAR6 RNA is expressed from the later-replicating allele. ASAR6 RNA is synthesized by RNA Polymerase II, is not polyadenlyated, is restricted to the nucleus, and is subject to random mono-allelic expression. Disruption of ASAR6 leads to the formation of bridged chromosomes, micronuclei, and structural instability of chromosome 6. Finally, ectopic integration of cloned genomic DNA containing ASAR6 causes delayed replication of entire mouse chromosomes.

  8. Do Running and Strength Exercises Reduce Daily Muscle Inactivity Time?

    Directory of Open Access Journals (Sweden)

    Taija Finni

    2016-09-01

    Full Text Available Understanding how a specific exercise changes daily activity patterns is important when designing physical activity interventions. We examined the effects of strength and interval running exercise sessions on daily activity patterns using recordings of quadriceps and hamstring muscle electromyographic (EMG activity and inactivity. Five male and five female subjects taking part in a 10-week training programme containing both strength and interval running training sessions were measured for daily muscle EMG activities during three days: on a strength day, an interval running day, and a day without exercise. EMG was measured using textile electrodes embedded into sport shorts that were worn 9.1 ± 1.4 hours/day and results are given as % of recording time. During the total measurement time the muscles were inactive 55 ± 26%, 53 ± 30% and 71 ± 12% during strength training day, interval running day, and day without exercise (n.s.. When compared to the day without exercise, the change in muscle inactivity correlated negatively with change in light muscle activity in strength (r = -0.971,p< 0.001 and interval running days (r = -0.965,p< 0.001. While interval running exercise bout induced a more systematic decrease in muscle inactivity time (from 62 ± 15% to 6 ± 6%,p< 0.001, reductions in muscle inactivity in response to strength exercise were highly individual (range 5–70 pp despite the same training programme. Strength, but not running exercise bout, increased muscle activity levels occurring above 50% MVC (p< 0.05 when compared to a similar period without exercise. The effect of strength exercise bout on totaldaily recording time increased the EMG amplitudes across the entire intensity spectrum. While strength and interval running exercise are effective in increasing muscle moderate-to-vigorous activity when compared to a similar period without exercise, it comprises only a small part of the day and does not seem to have a systematic effect

  9. Deletion of DXZ4 on the human inactive X chromosome alters higher-order genome architecture

    Science.gov (United States)

    Darrow, Emily M.; Huntley, Miriam H.; Dudchenko, Olga; Stamenova, Elena K.; Durand, Neva C.; Sun, Zhuo; Huang, Su-Chen; Sanborn, Adrian L.; Machol, Ido; Shamim, Muhammad; Seberg, Andrew P.; Lander, Eric S.; Chadwick, Brian P.; Aiden, Erez Lieberman

    2016-01-01

    During interphase, the inactive X chromosome (Xi) is largely transcriptionally silent and adopts an unusual 3D configuration known as the “Barr body.” Despite the importance of X chromosome inactivation, little is known about this 3D conformation. We recently showed that in humans the Xi chromosome exhibits three structural features, two of which are not shared by other chromosomes. First, like the chromosomes of many species, Xi forms compartments. Second, Xi is partitioned into two huge intervals, called “superdomains,” such that pairs of loci in the same superdomain tend to colocalize. The boundary between the superdomains lies near DXZ4, a macrosatellite repeat whose Xi allele extensively binds the protein CCCTC-binding factor. Third, Xi exhibits extremely large loops, up to 77 megabases long, called “superloops.” DXZ4 lies at the anchor of several superloops. Here, we combine 3D mapping, microscopy, and genome editing to study the structure of Xi, focusing on the role of DXZ4. We show that superloops and superdomains are conserved across eutherian mammals. By analyzing ligation events involving three or more loci, we demonstrate that DXZ4 and other superloop anchors tend to colocate simultaneously. Finally, we show that deleting DXZ4 on Xi leads to the disappearance of superdomains and superloops, changes in compartmentalization patterns, and changes in the distribution of chromatin marks. Thus, DXZ4 is essential for proper Xi packaging. PMID:27432957

  10. Multiple phosphoglucomutase alleles in Toxorhynchites splendens (Diptera: Culcidae).

    Science.gov (United States)

    Yong, H S; Chan, K L; Dhaliwal, S S; Burton, J J; Cheong, W H; Mak, J W

    1980-09-15

    Multiple phosphoglucomutase (E.C. 2.7.5.1) alleles are found in the mosquito Toxorhynchites splendens. The sample studied reveals 3 Pgm alleles whose frequencies are in good accord with Hardy-Weinberg expectations. The most frequent allele is that controlling a phenotype with an intermediate electrophoretic mobility. Each Pgm allele determines a two-band electrophoretic pattern.

  11. Emerging health problems among women: Inactivity, obesity, and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Yi-Ju Tsai

    2014-02-01

    Full Text Available The increase in obesity and metabolic syndrome has been documented worldwide. However, few studies have investigated the risk of inactivity, obesity, and metabolic syndrome specifically in women. Hormone balance plays a crucial role in regulating metabolism and helps to maintain optimal health. It is likely that the sex difference in obesity may be due to the variation in hormone concentration throughout a woman's life, which predisposes them to weight gain. This paper reviews previous literature and discusses factors that influence the risk of adiposity-related health consequences among women for three critical biological transitions throughout a woman's life: puberty, menopause, and pregnancy. To improve quality of life and metabolic health for women, interventions are needed to target women at different transition stages and provide tailored health education programs. Interventions should raise awareness of physical inactivity, obesity, and metabolic syndrome, and promote healthy behavioral change in women.

  12. Performance Evaluation of INACT - INDECT Advanced Image Cataloguing Tool

    Directory of Open Access Journals (Sweden)

    Libor Michalek

    2012-01-01

    Full Text Available In this article, we describe the performance evaluation of INACT tool which is developed for cataloguing of high-level and low-level metadata of the evidence material. INACT tool can be used by police forces in the cases of prosecution of such crimes as as possession and distribution of child pornography (CP. In live forensic cases, the time to first hit (time when the first image containing e.g. CP is found is important, as then further legal actions are justified (such as arrest of the suspect and his hardware. The performance evaluation of first hit was performed on real data with the cooperation of Czech Police, Department of Internet Crime.

  13. Expression of human PTPN22 alleles

    DEFF Research Database (Denmark)

    Nielsen, C; Barington, T; Husby, S

    2007-01-01

    Considering the female predominance in most of the autoimmune disorders that associate with the PTPN22 Trp620 variant and the complexity by which this variant influences immunologic tolerance, the objective of this study was to ascertain if the allele-specific expression of the disease...... and 72 h of activation, respectively, the expression of PTPN22 1858C- and T-alleles increased to the same extent (P=0.64). The present result essentially excludes such phenomena as a partial explanation for the female predominance in most of the autoimmune disorders that associate with the PTPN22 Trp620...

  14. Short-term Physical Inactivity Impairs Vascular Function

    Science.gov (United States)

    Nosova, Emily V.; Yen, Priscilla; Chong, Karen C.; Alley, Hugh F.; Stock, Eveline O.; Quinn, Alex; Hellmann, Jason; Conte, Michael S.; Owens, Christopher D.; Spite, Matthew; Grenon, S. Marlene

    2014-01-01

    Introduction Sedentarism, also termed physical inactivity, is an independent risk factor for cardiovascular diseases. Mechanisms thought to be involved include insulin resistance, dyslipidemia, hypertension, and increased inflammation. It is unknown whether changes in vascular and endothelial function also contribute to this excess risk. We hypothesized that short-term exposure to inactivity would lead to endothelial dysfunction, arterial stiffening and increased vascular inflammation. Methods Five healthy subjects (4 males and 1 female) underwent 5 days of bed rest (BR) to simulate inactivity. Measurements of vascular function [flow-mediated vasodilation (FMD) to evaluate endothelial function; applanation tonometry to assess arterial resistance], inflammation and metabolism were made before BR, daily during BR and after 2 recovery days. Subjects maintained an isocaloric diet throughout. Results Bed rest led to significant decreases in brachial artery and femoral artery FMD [Brachial: 11 ± 3% pre-BR vs. 9 ± 2% end-BR, P=0.04; Femoral: 4 ± 1% vs. 2 ± 1%, P=0.04]. The central augmentation index increased with BR [−4 ± 9% vs. 5 ± 11%, P=0.03]. Diastolic blood pressure (DBP) increased [58 ± 7 mmHg vs. 62 ± 7 mmHg, P=0.02], while neither systolic blood pressure nor heart rate changed. 15-HETE, an arachidonic acid metabolite, increased but the other inflammatory and metabolic biomarkers were unchanged. Conclusions Our findings show that acute exposure to sedentarism results in decreased endothelial function, arterial stiffening, increased DBP, and an increase in 15-HETE. We speculate that inactivity promotes a vascular “deconditioning” state characterized by impaired endothelial function, leading to arterial stiffness and increased arterial tone. Although physiologically significant, the underlying mechanisms and clinical relevance of these findings need to be further explored. PMID:24630521

  15. Investigation of the organic matter in inactive nuclear tank liquids

    International Nuclear Information System (INIS)

    Schenley, R.L.; Griest, W.H.

    1990-08-01

    Environmental Protection Agency (EPA) methodology for regulatory organics fails to account for the organic matter that is suggested by total organic carbon (TOC) analysis in the Oak Ridge National Laboratory (ORNL) inactive nuclear waste-tank liquids and sludges. Identification and measurement of the total organics are needed to select appropriate waste treatment technologies. An initial investigation was made of the nature of the organics in several waste-tank liquids. This report details the analysis of ORNL wastes

  16. Expression and loss of alleles in cultured mouse embryonic fibroblasts and stem cells carrying allelic fluorescent protein genes

    Directory of Open Access Journals (Sweden)

    Stringer Saundra L

    2006-10-01

    Full Text Available Abstract Background Loss of heterozygosity (LOH contributes to many cancers, but the rate at which these events occur in normal cells of the body is not clear. LOH would be detectable in diverse cell types in the body if this event were to confer an obvious cellular phenotype. Mice that carry two different fluorescent protein genes as alleles of a locus would seem to be a useful tool for addressing this issue because LOH would change a cell's phenotype from dichromatic to monochromatic. In addition, LOH caused by mitotic crossing over might be discernable in tissues because this event produces a pair of neighboring monochromatic cells that are different colors. Results As a step in assessing the utility of this approach, we derived primary embryonic fibroblast populations and embryonic stem cell lines from mice that carried two different fluorescent protein genes as alleles at the chromosome 6 locus, ROSA26. Fluorescence activated cell sorting (FACS showed that the vast majority of cells in each line expressed the two marker proteins at similar levels, and that populations exhibited expression noise similar to that seen in bacteria and yeast. Cells with a monochromatic phenotype were present at frequencies on the order of 10-4 and appeared to be produced at a rate of approximately 10-5 variant cells per mitosis. 45 of 45 stably monochromatic ES cell clones exhibited loss of the expected allele at the ROSA26 locus. More than half of these clones retained heterozygosity at a locus between ROSA26 and the centromere. Other clones exhibited LOH near the centromere, but were disomic for chromosome 6. Conclusion Allelic fluorescent markers allowed LOH at the ROSA26 locus to be detected by FACS. LOH at this locus was usually not accompanied by LOH near the centromere, suggesting that mitotic recombination was the major cause of ROSA26 LOH. Dichromatic mouse embryonic cells provide a novel system for studying genetic/karyotypic stability and factors

  17. The pulsed migration of hydrocarbons across inactive faults

    Directory of Open Access Journals (Sweden)

    S. D. Harris

    1999-01-01

    Full Text Available Geological fault zones are usually assumed to influence hydrocarbon migration either as high permeability zones which allow enhanced along- or across-fault flow or as barriers to the flow. An additional important migration process inducing along- or across-fault migration can be associated with dynamic pressure gradients. Such pressure gradients can be created by earthquake activity and are suggested here to allow migration along or across inactive faults which 'feel' the quake-related pressure changes; i.e. the migration barriers can be removed on inactive faults when activity takes place on an adjacent fault. In other words, a seal is viewed as a temporary retardation barrier which leaks when a fault related fluid pressure event enhances the buoyancy force and allows the entry pressure to be exceeded. This is in contrast to the usual model where a seal leaks because an increase in hydrocarbon column height raises the buoyancy force above the entry pressure of the fault rock. Under the new model hydrocarbons may migrate across the inactive fault zone for some time period during the earthquake cycle. Numerical models of this process are presented to demonstrate the impact of this mechanism and its role in filling traps bounded by sealed faults.

  18. Fine mapping of dominant X-linked incompatibility alleles in Drosophila hybrids.

    Science.gov (United States)

    Matute, Daniel R; Gavin-Smyth, Jackie

    2014-04-01

    Sex chromosomes have a large effect on reproductive isolation and play an important role in hybrid inviability. In Drosophila hybrids, X-linked genes have pronounced deleterious effects on fitness in male hybrids, which have only one X chromosome. Several studies have succeeded at locating and identifying recessive X-linked alleles involved in hybrid inviability. Nonetheless, the density of dominant X-linked alleles involved in interspecific hybrid viability remains largely unknown. In this report, we study the effects of a panel of small fragments of the D. melanogaster X-chromosome carried on the D. melanogaster Y-chromosome in three kinds of hybrid males: D. melanogaster/D. santomea, D. melanogaster/D. simulans and D. melanogaster/D. mauritiana. D. santomea and D. melanogaster diverged over 10 million years ago, while D. simulans (and D. mauritiana) diverged from D. melanogaster over 3 million years ago. We find that the X-chromosome from D. melanogaster carries dominant alleles that are lethal in mel/san, mel/sim, and mel/mau hybrids, and more of these alleles are revealed in the most divergent cross. We then compare these effects on hybrid viability with two D. melanogaster intraspecific crosses. Unlike the interspecific crosses, we found no X-linked alleles that cause lethality in intraspecific crosses. Our results reveal the existence of dominant alleles on the X-chromosome of D. melanogaster which cause lethality in three different interspecific hybrids. These alleles only cause inviability in hybrid males, yet have little effect in hybrid females. This suggests that X-linked elements that cause hybrid inviability in males might not do so in hybrid females due to differing sex chromosome interactions.

  19. Standardized SSR allele naming and binning among projects.

    Science.gov (United States)

    Deemer, Dennis L; Nelson, C Dana

    2010-11-01

    Simple sequence repeats (SSRs) have proven to be extremely valuable DNA markers for genetic mapping and population genetic analyses. However, data collected across laboratories or even within laboratories are difficult to combine due to challenges in standardizing allele names, especially for nonmodel systems. Here we provide a new approach for standardizing SSR allele names that combines several previously recognized components for standardization, including reference samples/alleles, cumulative binsets, static between-allele spacing, and interval allele naming.

  20. Physical inactivity affects skeletal muscle insulin signaling in a birth weight-dependent manner

    DEFF Research Database (Denmark)

    Mortensen, Brynjulf; Friedrichsen, Martin; Andersen, Nicoline Resen

    2014-01-01

    We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects.......We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects....

  1. ERICA: leisure-time physical inactivity in Brazilian adolescents

    Science.gov (United States)

    Cureau, Felipe Vogt; da Silva, Thiago Luiz Nogueira; Bloch, Katia Vergetti; Fujimori, Elizabeth; Belfort, Dilson Rodrigues; de Carvalho, Kênia Mara Baiocchi; de Leon, Elisa Brosina; de Vasconcellos, Mauricio Teixeira Leite; Ekelund, Ulf; Schaan, Beatriz D

    2016-01-01

    ABSTRACT OBJECTIVE To evaluate the prevalence of leisure-time physical inactivity in Brazilian adolescents and their association with geographical and sociodemographic variables. METHODS The sample was composed by 74,589 adolescents participating in the Study of Cardiovascular Risks in Adolescents (ERICA). This cross-sectional study of school basis with national scope involved adolescents aged from 12 to 17 years in Brazilian cities with more than 100 thousand inhabitants. The prevalence of leisure-time physical inactivity was categorized according to the volume of weekly practice (< 300; 0 min). The prevalences were estimated for the total sample and by sex. Poisson regression models were used to assess associated factors. RESULTS The prevalence of leisure-time physical inactivity was 54.3% (95%CI 53.4-55.2), and higher for the female sex (70.7%, 95%CI 69.5-71.9) compared to the male (38.0%, 95%CI 36.7-39.4). More than a quarter of adolescents (26.5%, 95%CI 25.8-27.3) reported not practicing physical activity in the leisure time, a condition more prevalent for girls (39.8%, 95%CI 38.8-40.9) than boys (13.4%, 95%CI 12.4-14.4). For girls, the variables that were associated with physical inactivity were: reside in the Northeast (RP = 1.13, 95%CI 1.08-1.19), Southeast (RP = 1.16, 95%CI 1.11-1.22) and South (RP = 1.12, 95%CI 1.06-1.18); have 16-17 years (RP = 1.06, 95%CI 1.12-1.15); and belong to the lower economic class (RP = 1.33, 95%CI 1.20-1.48). The same factors, except reside in the Southeast and South, were also associated with not practicing physical activity in the leisure time for the same group. In males, as well as the region, being older (p < 0.001) and declaring to be indigenous (RP = 0.37, 95%CI 0.19-0.73) were also associated with not practicing physical activities in the leisure time. CONCLUSIONS The prevalence of leisure-time physical inactivity in Brazilian adolescents is high. It presents regional variations and is associated with age and low

  2. Diversity of Lactase Persistence Alleles in Ethiopia

    DEFF Research Database (Denmark)

    Jones, BL; Raga, TO; Liebert, Anke

    2013-01-01

    The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (−13910∗T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene ...

  3. Microangiopathic complications related to different alleles of ...

    African Journals Online (AJOL)

    Microangiopathic complications related to different alleles of manganese superoxide dismutase gene in diabetes mellitus type 1. TM EL Masry, MA Abou Zahra, Kh. A Soliman, M El-Taweel. Abstract. No Abstract. The Egyptian Journal of Biochemistry and Molecular Biology Vol. 23(2) 2005: 155-167. Full Text: EMAIL FULL ...

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  5. 38 CFR 3.372 - Initial grant following inactivity of tuberculosis.

    Science.gov (United States)

    2010-07-01

    ... inactivity of tuberculosis. 3.372 Section 3.372 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF... Considerations Relative to Specific Diseases § 3.372 Initial grant following inactivity of tuberculosis. When... tuberculosis and there is satisfactory evidence that the condition was active previously but is now inactive...

  6. Intersex (ix) mutations of Drosophila melanogaster cause ...

    Indian Academy of Sciences (India)

    Stock Center, USA). dpp stocks: The following four dpp stocks were used in the present investigation: (i) dppdho/SM5 (Blackman et al. 1991). 'heldout' is the mildest allele of the disk region which causes defective only in wing posture, (ii) dppd5/CyO, class dII of dpp allele exhibit reduction of male genitalia in homozygous.

  7. 76 FR 70448 - Publication of Inaccurate or Inactive Ocean Common Carrier Tariffs; Order to Show Cause

    Science.gov (United States)

    2011-11-14

    ... submitting Form FMC-1 via the Commission's Web site. A list of the locations of all carrier and conference tariffs submitted on Form FMC-1 is published on the Commission's Web site. The list is updated in real... Container Line, C.A., Piso 16, Torre El Chorro, 007292 Esquina El Chorro, Caracas, Venezuela VOC Steel...

  8. Understanding the causes of obesity in children with trisomy 21: hyperphagia vs physical inactivity.

    Science.gov (United States)

    Foerste, T; Sabin, M; Reid, S; Reddihough, D

    2016-09-01

    Individuals with intellectual disabilities are at increased risk of becoming overweight or obese. This is particularly evident in people with trisomy 21 and Prader-Willi syndrome (PWS). Although metabolic factors are known to contribute to obesity in trisomy 21 and hyperphagia plays a primary role in PWS, hyperphagia has not yet been investigated as a possible contributing factor to obesity in trisomy 21. Participants comprised three diagnostic groups: trisomy 21 (T21 group), PWS (PWS group) and lifestyle-related obesity (LRO group). They were required to be aged 6-18 years and have a body mass index over the 85th percentile for age and gender. A parent of each participant completed the Hyperphagia Questionnaire and the Children's Leisure Activity Study Survey. Mean scores for each domain and across all domains of the Hyperphagia Questionnaire and the Children's Leisure Activity Study Survey were compared between diagnostic groups using linear regression analysis. The study group consisted of 52 young people (23 men and 29 women) aged 6-18 years (mean 12.5 years; T21 group n = 17, PWS group n = 16 and LRO group n = 19). As hypothesised, the PWS group had the highest mean scores across all domains of the Hyperphagia Questionnaire, and the LRO group had the lowest. Food-seeking behaviour was more pronounced in the PWS group than the T21 group (mean score 13.2 vs. 8.6, p = 0.008). The LRO group spent more hours per week engaged in physical activity (14.7) in comparison with the other groups (9.6 and 9.7), whereas between the groups, differences in time spent in sedentary activities were less pronounced. Preoccupation with food and low levels of physical activity may contribute to the development of overweight and obesity in some individuals with trisomy 21. These factors warrant consideration in the clinical context. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  9. Olanzapine causes hypothermia, inactivity, a deranged feeding pattern and weight gain in female Wistar rats

    NARCIS (Netherlands)

    Evers, S. S.; Calcagnoli, F.; van Dijk, G.; Scheurink, A. J. W.

    2010-01-01

    Olanzapine is an a-typical antipsychotic drug antagonizing predominantly 5-HT and dopamine but also histamine muscarin and a adrenergic receptors In humans Olanzapine induces weight gain and increases the risk of type 2 diabetes The underlying mechanisms of Olanzapine-induced weight gain are unclear

  10. Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

    Science.gov (United States)

    Ramos, Eliana Marisa; Gillis, Tammy; Mysore, Jayalakshmi S; Lee, Jong-Min; Alonso, Isabel; Gusella, James F; Smoller, Jordan W; Sklar, Pamela; MacDonald, Marcy E; Perlis, Roy H

    2015-06-01

    Huntington's disease is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms that are caused by huntingtin gene (HTT) CAG trinucleotide repeat alleles of 36 or more units. A greater than expected prevalence of incompletely penetrant HTT CAG repeat alleles observed among individuals diagnosed with major depressive disorder raises the possibility that another mood disorder, bipolar disorder, could likewise be associated with Huntington's disease. We assessed the distribution of HTT CAG repeat alleles in a cohort of individuals with bipolar disorder. HTT CAG allele sizes from 2,229 Caucasian individuals diagnosed with DSM-IV bipolar disorder were compared to allele sizes in 1,828 control individuals from multiple cohorts. We found that HTT CAG repeat alleles > 35 units were observed in only one of 4,458 chromosomes from individuals with bipolar disorder, compared to three of 3,656 chromosomes from control subjects. These findings do not support an association between bipolar disorder and Huntington's disease. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

    Science.gov (United States)

    Triggs-Raine, B. L.; Mules, E. H.; Kaback, M. M.; Lim-Steele, J. S. T.; Dowling, C. E.; Akerman, B. R.; Natowicz, M. R.; Grebner, E. E.; Navon, R.; Welch, J. P.; Greenberg, C. R.; Thomas, G. H.; Gravel, R. A.

    1992-01-01

    Deficiency of β-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247→Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele. Six additional pseudodeficient subjects were found to have the C739-to-T mutation. This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group. The C739-to-T allele, together with a “true” Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses. ImagesFigure 1Figure 2Figure 3 PMID:1384323

  12. DNA methylation profiles of human active and inactive X chromosomes.

    Science.gov (United States)

    Sharp, Andrew J; Stathaki, Elisavet; Migliavacca, Eugenia; Brahmachary, Manisha; Montgomery, Stephen B; Dupre, Yann; Antonarakis, Stylianos E

    2011-10-01

    X-chromosome inactivation (XCI) is a dosage compensation mechanism that silences the majority of genes on one X chromosome in each female cell. To characterize epigenetic changes that accompany this process, we measured DNA methylation levels in 45,X patients carrying a single active X chromosome (X(a)), and in normal females, who carry one X(a) and one inactive X (X(i)). Methylated DNA was immunoprecipitated and hybridized to high-density oligonucleotide arrays covering the X chromosome, generating epigenetic profiles of active and inactive X chromosomes. We observed that XCI is accompanied by changes in DNA methylation specifically at CpG islands (CGIs). While the majority of CGIs show increased methylation levels on the X(i), XCI actually results in significant reductions in methylation at 7% of CGIs. Both intra- and inter-genic CGIs undergo epigenetic modification, with the biggest increase in methylation occurring at the promoters of genes silenced by XCI. In contrast, genes escaping XCI generally have low levels of promoter methylation, while genes that show inter-individual variation in silencing show intermediate increases in methylation. Thus, promoter methylation and susceptibility to XCI are correlated. We also observed a global correlation between CGI methylation and the evolutionary age of X-chromosome strata, and that genes escaping XCI show increased methylation within gene bodies. We used our epigenetic map to predict 26 novel genes escaping XCI, and searched for parent-of-origin-specific methylation differences, but found no evidence to support imprinting on the human X chromosome. Our study provides a detailed analysis of the epigenetic profile of active and inactive X chromosomes.

  13. Spatial proximity of homologous alleles and long noncoding RNAs regulate a switch in allelic gene expression.

    Science.gov (United States)

    Stratigi, Kalliopi; Kapsetaki, Manouela; Aivaliotis, Michalis; Town, Terrence; Flavell, Richard A; Spilianakis, Charalampos G

    2015-03-31

    Physiological processes rely on the regulation of total mRNA levels in a cell. In diploid organisms, the transcriptional activation of one or both alleles of a gene may involve trans-allelic interactions that provide a tight spatial and temporal level of gene expression regulation. The mechanisms underlying such interactions still remain poorly understood. Here, we demonstrate that lipopolysaccharide stimulation of murine macrophages rapidly resulted in the actin-mediated and transient homologous spatial proximity of Tnfα alleles, which was necessary for the mono- to biallelic switch in gene expression. We identified two new complementary long noncoding RNAs transcribed from the TNFα locus and showed that their knockdown had opposite effects in Tnfα spatial proximity and allelic expression. Moreover, the observed spatial proximity of Tnfα alleles depended on pyruvate kinase muscle isoform 2 (PKM2) and T-helper-inducing POZ-Krüppel-like factor (ThPOK). This study suggests a role for lncRNAs in the regulation of somatic homologous spatial proximity and allelic expression control necessary for fine-tuning mammalian immune responses.

  14. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

    Science.gov (United States)

    Davis, Erica E.; Zhang, Qi; Liu, Qin; Diplas, Bill H.; Davey, Lisa M.; Hartley, Jane; Stoetzel, Corinne; Szymanska, Katarzyna; Ramaswami, Gokul; Logan, Clare V.; Muzny, Donna M.; Young, Alice C.; Wheeler, David A.; Cruz, Pedro; Morgan, Margaret; Lewis, Lora R.; Cherukuri, Praveen; Maskeri, Baishali; Hansen, Nancy F.; Mullikin, James C.; Blakesley, Robert W.; Bouffard, Gerard G.; Gyapay, Gabor; Reiger, Susanne; Tönshoff, Burkhard; Kern, Ilse; Soliman, Neveen A.; Neuhaus, Thomas J.; Swoboda, Kathryn J.; Kayserili, Hulya; Gallagher, Tomas E.; Lewis, Richard A.; Bergmann, Carsten; Otto, Edgar A.; Saunier, Sophie; Scambler, Peter J.; Beales, Philip L.; Gleeson, Joseph G.; Maher, Eamonn R.; Attié-Bitach, Tania; Dollfus, Hélène; Johnson, Colin A.; Green, Eric D.; Gibbs, Richard A.; Hildebrandt, Friedhelm; Pierce, Eric A.; Katsanis, Nicholas

    2011-01-01

    Ciliary dysfunction leads to a broad range of overlapping phenotypes, termed collectively as ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifying alleles to clinically distinct disorders. Here we show that mutations in TTC21B/IFT139, encoding a retrograde intraflagellar transport (IFT) protein, cause both isolated nephronophthisis (NPHP) and syndromic Jeune Asphyxiating Thoracic Dystrophy (JATD). Moreover, although systematic medical resequencing of a large, clinically diverse ciliopathy cohort and matched controls showed a similar frequency of rare changes, in vivo and in vitro evaluations unmasked a significant enrichment of pathogenic alleles in cases, suggesting that TTC21B contributes pathogenic alleles to ∼5% of ciliopathy patients. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies, as well as interact in trans with other disease-causing genes, and highlight how saturated resequencing followed by functional analysis of all variants informs the genetic architecture of disorders. PMID:21258341

  15. Use of allele scores as instrumental variables for Mendelian randomization.

    Science.gov (United States)

    Burgess, Stephen; Thompson, Simon G

    2013-08-01

    An allele score is a single variable summarizing multiple genetic variants associated with a risk factor. It is calculated as the total number of risk factor-increasing alleles for an individual (unweighted score), or the sum of weights for each allele corresponding to estimated genetic effect sizes (weighted score). An allele score can be used in a Mendelian randomization analysis to estimate the causal effect of the risk factor on an outcome. Data were simulated to investigate the use of allele scores in Mendelian randomization where conventional instrumental variable techniques using multiple genetic variants demonstrate 'weak instrument' bias. The robustness of estimates using the allele score to misspecification (for example non-linearity, effect modification) and to violations of the instrumental variable assumptions was assessed. Causal estimates using a correctly specified allele score were unbiased with appropriate coverage levels. The estimates were generally robust to misspecification of the allele score, but not to instrumental variable violations, even if the majority of variants in the allele score were valid instruments. Using a weighted rather than an unweighted allele score increased power, but the increase was small when genetic variants had similar effect sizes. Naive use of the data under analysis to choose which variants to include in an allele score, or for deriving weights, resulted in substantial biases. Allele scores enable valid causal estimates with large numbers of genetic variants. The stringency of criteria for genetic variants in Mendelian randomization should be maintained for all variants in an allele score.

  16. ERICA: leisure-time physical inactivity in Brazilian adolescents.

    Science.gov (United States)

    Cureau, Felipe Vogt; da Silva, Thiago Luiz Nogueira; Bloch, Katia Vergetti; Fujimori, Elizabeth; Belfort, Dilson Rodrigues; de Carvalho, Kênia Mara Baiocchi; de Leon, Elisa Brosina; de Vasconcellos, Mauricio Teixeira Leite; Ekelund, Ulf; Schaan, Beatriz D

    2016-02-01

    OBJECTIVE To evaluate the prevalence of leisure-time physical inactivity in Brazilian adolescents and their association with geographical and sociodemographic variables. METHODS The sample was composed by 74,589 adolescents participating in the Study of Cardiovascular Risks in Adolescents (ERICA). This cross-sectional study of school basis with national scope involved adolescents aged from 12 to 17 years in Brazilian cities with more than 100 thousand inhabitants. The prevalence of leisure-time physical inactivity was categorized according to the volume of weekly practice (Southeast (RP = 1.16, 95%CI 1.11-1.22) and South (RP = 1.12, 95%CI 1.06-1.18); have 16-17 years (RP = 1.06, 95%CI 1.12-1.15); and belong to the lower economic class (RP = 1.33, 95%CI 1.20-1.48). The same factors, except reside in the Southeast and South, were also associated with not practicing physical activity in the leisure time for the same group. In males, as well as the region, being older (p Brazilian adolescents is high. It presents regional variations and is associated with age and low socioeconomic status. Special attention should be given to girls and to those who do not engage in any physical activity during the leisure time, so that they can adopt a more active lifestyle.

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

    Directory of Open Access Journals (Sweden)

    Zoë Lonsdale

    2017-09-01

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

  18. Geographically Distinct and Domain-Specific Sequence Variations in the Alleles of Rice Blast Resistance Gene Pib.

    Science.gov (United States)

    Vasudevan, Kumar; Vera Cruz, Casiana M; Gruissem, Wilhelm; Bhullar, Navreet K

    2016-01-01

    Rice blast is caused by Magnaporthe oryzae, which is the most destructive fungal pathogen affecting rice growing regions worldwide. The rice blast resistance gene Pib confers broad-spectrum resistance against Southeast Asian M. oryzae races. We investigated the allelic diversity of Pib in rice germplasm originating from 12 major rice growing countries. Twenty-five new Pib alleles were identified that have unique single nucleotide polymorphisms (SNPs), insertions and/or deletions, in addition to the polymorphic nucleotides that are shared between the different alleles. These partially or completely shared polymorphic nucleotides indicate frequent sequence exchange events between the Pib alleles. In some of the new Pib alleles, nucleotide diversity is high in the LRR domain, whereas, in others it is distributed among the NB-ARC and LRR domains. Most of the polymorphic amino acids in LRR and NB-ARC2 domains are predicted as solvent-exposed. Several of the alleles and the unique SNPs are country specific, suggesting a diversifying selection of alleles in various geographical locations in response to the locally prevalent M. oryzae population. Together, the new Pib alleles are an important genetic resource for rice blast resistance breeding programs and provide new information on rice-M. oryzae interactions at the molecular level.

  19. An allele of the crm gene blocks cyanobacterial circadian rhythms.

    Science.gov (United States)

    Boyd, Joseph S; Bordowitz, Juliana R; Bree, Anna C; Golden, Susan S

    2013-08-20

    The SasA-RpaA two-component system constitutes a key output pathway of the cyanobacterial Kai circadian oscillator. To date, rhythm of phycobilisome associated (rpaA) is the only gene other than kaiA, kaiB, and kaiC, which encode the oscillator itself, whose mutation causes completely arrhythmic gene expression. Here we report a unique transposon insertion allele in a small ORF located immediately upstream of rpaA in Synechococcus elongatus PCC 7942 termed crm (for circadian rhythmicity modulator), which results in arrhythmic promoter activity but does not affect steady-state levels of RpaA. The crm ORF complements the defect when expressed in trans, but only if it can be translated, suggesting that crm encodes a small protein. The crm1 insertion allele phenotypes are distinct from those of an rpaA null; crm1 mutants are able to grow in a light:dark cycle and have no detectable oscillations of KaiC phosphorylation, whereas low-amplitude KaiC phosphorylation rhythms persist in the absence of RpaA. Levels of phosphorylated RpaA in vivo measured over time are significantly altered compared with WT in the crm1 mutant as well as in the absence of KaiC. Taken together, these results are consistent with the hypothesis that the Crm polypeptide modulates a circadian-specific activity of RpaA.

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

    Science.gov (United States)

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

    2017-10-30

    Genomic evaluation is used to predict direct genomic values (DGV) for selection candidates in breeding programs, but also to estimate allele substitution effects (ASE) of single nucleotide polymorphisms (SNPs). Scaling of allele counts influences the estimated ASE, because scaling of allele counts results in less shrinkage towards the mean for low minor allele frequency (MAF) variants. Scaling may become relevant for estimating ASE as more low MAF variants will be used in genomic evaluations. We show the impact of scaling on estimates of ASE using real data and a theoretical framework, and in terms of power, model fit and predictive performance. In a dairy cattle dataset with 630 K SNP genotypes, the correlation between DGV for stature from a random regression model using centered allele counts (RRc) and centered and scaled allele counts (RRcs) was 0.9988, whereas the overall correlation between ASE using RRc and RRcs was 0.27. The main difference in ASE between both methods was found for SNPs with a MAF lower than 0.01. Both the ratio (ASE from RRcs/ASE from RRc) and the regression coefficient (regression of ASE from RRcs on ASE from RRc) were much higher than 1 for low MAF SNPs. Derived equations showed that scenarios with a high heritability, a large number of individuals and a small number of variants have lower ratios between ASE from RRc and RRcs. We also investigated the optimal scaling parameter [from - 1 (RRcs) to 0 (RRc) in steps of 0.1] in the bovine stature dataset. We found that the log-likelihood was maximized with a scaling parameter of - 0.8, while the mean squared error of prediction was minimized with a scaling parameter of - 1, i.e., RRcs. Large differences in estimated ASE were observed for low MAF SNPs when allele counts were scaled or not scaled because there is less shrinkage towards the mean for scaled allele counts. We derived a theoretical framework that shows that the difference in ASE due to shrinkage is heavily influenced by the

  1. Alleles versus mutations: Understanding the evolution of genetic architecture requires a molecular perspective on allelic origins.

    Science.gov (United States)

    Remington, David L

    2015-12-01

    Perspectives on the role of large-effect quantitative trait loci (QTL) in the evolution of complex traits have shifted back and forth over the past few decades. Different sets of studies have produced contradictory insights on the evolution of genetic architecture. I argue that much of the confusion results from a failure to distinguish mutational and allelic effects, a limitation of using the Fisherian model of adaptive evolution as the lens through which the evolution of adaptive variation is examined. A molecular-based perspective reveals that allelic differences can involve the cumulative effects of many mutations plus intragenic recombination, a model that is supported by extensive empirical evidence. I discuss how different selection regimes could produce very different architectures of allelic effects under a molecular-based model, which may explain conflicting insights on genetic architecture from studies of variation within populations versus between divergently selected populations. I address shortcomings of genome-wide association study (GWAS) practices in light of more suitable models of allelic evolution, and suggest alternate GWAS strategies to generate more valid inferences about genetic architecture. Finally, I discuss how adopting more suitable models of allelic evolution could help redirect research on complex trait evolution toward addressing more meaningful questions in evolutionary biology. © 2015 The Author(s). Evolution © 2015 The Society for the Study of Evolution.

  2. Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, A.D.; Ousager, L.B.

    2012-01-01

    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817...

  3. Narcolepsy-Associated HLA Class I Alleles Implicate Cell-Mediated Cytotoxicity

    NARCIS (Netherlands)

    Tafti, M.; Lammers, G.J.; Dauvilliers, Y.; Overeem, S.; Mayer, G.; Nowak, J.; Pfister, C.; Dubois, V.; Eliaou, J.F.; Eberhard, H.P.; Liblau, R.; Wierzbicka, A.; Geisler, P.; Bassetti, C.L.; Mathis, J.; Lecendreux, M.; Khatami, R.; Heinzer, R.; Haba-Rubio, J.; Feketeova, E.; Baumann, C.R.; Kutalik, Z.; Tiercy, J.M.

    2016-01-01

    STUDY OBJECTIVES: Narcolepsy with cataplexy is tightly associated with the HLA class II allele DQB1*06:02. Evidence indicates a complex contribution of HLA class II genes to narcolepsy susceptibility with a recent independent association with HLA-DPB1. The cause of narcolepsy is supposed be an

  4. The association of eba-175 alleles with the outcome of malaria in ...

    African Journals Online (AJOL)

    The association of eba-175 alleles with the outcome of malaria in Nigerian children. OK Amodu, SA Olaniyan, OO Omotade. Abstract. Malaria remains a major cause of morbidity and mortality in Nigeria. Plasmodium falciparum erythrocyte binding antigen-175, eba-175, plays an important role in the invasion of host cells ...

  5. Detection of allelic variability at wheat loci associated with resistance to Fusarium ssp. using molecular markers - microsatellites

    Directory of Open Access Journals (Sweden)

    Kačavenda Dragana

    2006-01-01

    Full Text Available Fusarium head blight (FHB, caused primarily by Fusarium graminearum, is one of the most important fungal diseases of wheat. It may cause severe yield and quality losses in humid and warm conditions. However, the most important concern is the mycotoxin contamination of grain. Breeding of cultivars resistant to FHB is the best way to control the disease. In order to examine possibilities for application molecular markers - microsatellites in selecting for resistance to FHB, allelic variability at wheat loci associated with resistance to Fusarium ssp. was saidied using two microsatellite markers: GWM533 (chromosome 3B and GWM156 (chromosome 5A. Detection of the allelic polymorphism was conducted compared to the cultivars Sumai 3, Frontana and Amigo which are widely used as FHB resistance sources. In 23 French genotypes and 25 genotypes developed at the Institute of Field and Vegetable Crops in Novi Sad, 5 alleles (GWM533 and 6 alleles (GWM156 were detected. In 15 genotypes at loci GWM533 and 10 genotypes at loci GWM156 same allele was detected as in some of standard cultivars. Obtained results should be evaluated at field experiments in order to confirm corelation between presence of specific allele and resistance to fusarium head blight and in order to examine importance of alleles that are not detected in standard cultivars.

  6. Update on allele nomenclature for human cytochromes P450 and the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Database.

    Science.gov (United States)

    Sim, Sarah C; Ingelman-Sundberg, Magnus

    2013-01-01

    Interindividual variability in xenobiotic metabolism and drug response is extensive and genetic factors play an important role in this variation. A majority of clinically used drugs are substrates for the cytochrome P450 (CYP) enzyme system and interindividual variability in expression and function of these enzymes is a major factor for explaining individual susceptibility for adverse drug reactions and drug response. Because of the existence of many polymorphic CYP genes, for many of which the number of allelic variants is continually increasing, a universal and official nomenclature system is important. Since 1999, all functionally relevant polymorphic CYP alleles are named and published on the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Web site (http://www.cypalleles.ki.se). Currently, the database covers nomenclature of more than 660 alleles in a total of 30 genes that includes 29 CYPs as well as the cytochrome P450 oxidoreductase (POR) gene. On the CYP-allele Web site, each gene has its own Webpage, which lists the alleles with their nucleotide changes, their functional consequences, and links to publications identifying or characterizing the alleles. CYP2D6, CYP2C9, CYP2C19, and CYP3A4 are the most important CYPs in terms of drug metabolism, which is also reflected in their corresponding highest number of Webpage hits at the CYP-allele Web site.The main advantage of the CYP-allele database is that it offers a rapid online publication of CYP-alleles and their effects and provides an overview of peer-reviewed data to the scientific community. Here, we provide an update of the CYP-allele database and the associated nomenclature.

  7. Object-oriented Bayesian networks for paternity cases with allelic dependencies.

    Science.gov (United States)

    Hepler, Amanda B; Weir, Bruce S

    2008-06-01

    This study extends the current use of Bayesian networks by incorporating the effects of allelic dependencies in paternity calculations. The use of object-oriented networks greatly simplify the process of building and interpreting forensic identification models, allowing researchers to solve new, more complex problems. We explore two paternity examples: the most common scenario where DNA evidence is available from the alleged father, the mother and the child; a more complex casewhere DNA is not available from the alleged father, but is available from the alleged father's brother. Object-oriented networks are built, using HUGIN, for each example which incorporate the effects of allelic dependence caused by evolutionary relatedness.

  8. Guidelines for cleanup of uranium tailings from inactive mills

    International Nuclear Information System (INIS)

    Goldsmith, W.A.; Haywood, F.F.; Jacobs, D.G.

    1975-01-01

    Recent experiences in Grand Junction, Colorado, have indicated the significance of uranium tailings as sources of nonoccupational exposure and suggest that current methods for perpetual care and isolation of the large areas covered by tailings piles at inactive mill locations may be inadequate for minimizing human exposure. This paper presents the rationale and the procedures used in reviewing the adequacy of proposed criteria for remedial action at these sites. Exposures due to aquatic, terrestrial, airborne, and direct contamination pathways were compared to determine the most important radionuclides in the pile and their pathways to man. It is shown that the most hazardous components of the tailings are 226 Ra and 230 Th. The long half-lives of these radionuclides require the consideration of continuous occupancy of the vacated site at some future time, even if the immediately projected land use does not anticipate maximum exposure

  9. [An allelism test for quantitative trait genes].

    Science.gov (United States)

    Smiriaev, A V

    2011-04-01

    Analytical modeling has been used to test assumptions on the mode of inheritance of a quantitative trait in the course of diallel crossing between pure strains that are sufficient for adequacy of a simple regression model. This model frequently proved to be adequate in analysis of numerous data on diallel crossings of wheat and maize. An allelism test for quantitative trait genes has been suggested. Computer simulation has been used to estimate the effect of random experimental errors and deviations from the suggested model.

  10. Allelic genealogies in sporophytic self-incompatibility systems in plants

    DEFF Research Database (Denmark)

    Schierup, M H; Vekemans, X; Christiansen, F B

    1998-01-01

    Expectations for the time scale and structure of allelic genealogies in finite populations are formed under three models of sporophytic self-incompatibility. The models differ in the dominance interactions among the alleles that determine the self-incompatibility phenotype: In the SSIcod model...... action, and the most recessive extant allele is likely to be the most recent common ancestor. Despite these asymmetries, the expected shape of the allele genealogies does not deviate markedly from the shape of a neutral gene genealogy. The application of the results to sequence surveys of alleles...

  11. Structures of the inactive and active states of RIP2 kinase inform on the mechanism of activation.

    Directory of Open Access Journals (Sweden)

    Erika Pellegrini

    Full Text Available Innate immune receptors NOD1 and NOD2 are activated by bacterial peptidoglycans leading to recruitment of adaptor kinase RIP2, which, upon phosphorylation and ubiquitination, becomes a scaffold for downstream effectors. The kinase domain (RIP2K is a pharmaceutical target for inflammatory diseases caused by aberrant NOD2-RIP2 signalling. Although structures of active RIP2K in complex with inhibitors have been reported, the mechanism of RIP2K activation remains to be elucidated. Here we analyse RIP2K activation by combining crystal structures of the active and inactive states with mass spectrometric characterization of their phosphorylation profiles. The active state has Helix αC inwardly displaced and the phosphorylated Activation Segment (AS disordered, whilst in the inactive state Helix αC is outwardly displaced and packed against the helical, non-phosphorylated AS. Biophysical measurements show that the active state is a stable dimer whilst the inactive kinase is in a monomer-dimer equilibrium, consistent with the observed structural differences at the dimer interface. We conclude that RIP2 kinase auto-phosphorylation is intimately coupled to dimerization, similar to the case of BRAF. Our results will help drug design efforts targeting RIP2 as a potential treatment for NOD2-RIP2 related inflammatory diseases.

  12. Computational analysis of whole-genome differential allelic expression data in human.

    Directory of Open Access Journals (Sweden)

    James R Wagner

    Full Text Available Allelic imbalance (AI is a phenomenon where the two alleles of a given gene are expressed at different levels in a given cell, either because of epigenetic inactivation of one of the two alleles, or because of genetic variation in regulatory regions. Recently, Bing et al. have described the use of genotyping arrays to assay AI at a high resolution (approximately 750,000 SNPs across the autosomes. In this paper, we investigate computational approaches to analyze this data and identify genomic regions with AI in an unbiased and robust statistical manner. We propose two families of approaches: (i a statistical approach based on z-score computations, and (ii a family of machine learning approaches based on Hidden Markov Models. Each method is evaluated using previously published experimental data sets as well as with permutation testing. When applied to whole genome data from 53 HapMap samples, our approaches reveal that allelic imbalance is widespread (most expressed genes show evidence of AI in at least one of our 53 samples and that most AI regions in a given individual are also found in at least a few other individuals. While many AI regions identified in the genome correspond to known protein-coding transcripts, others overlap with recently discovered long non-coding RNAs. We also observe that genomic regions with AI not only include complete transcripts with consistent differential expression levels, but also more complex patterns of allelic expression such as alternative promoters and alternative 3' end. The approaches developed not only shed light on the incidence and mechanisms of allelic expression, but will also help towards mapping the genetic causes of allelic expression and identify cases where this variation may be linked to diseases.

  13. [Physical inactivity in Galicia (Spain): trends and the impact of changes in the definition].

    Science.gov (United States)

    Pérez-Ríos, Mónica; Santiago-Pérez, María I; Rodríguez-Camacho, Elena; Malvar, Alberto; Suanzes, Jorge; Hervada, Xurxo

    2015-01-01

    To estimate the prevalence of physical inactivity during leisure time in Galicia (Spain) between 2007 and 2011 and to assess the impact of including non-leisure time activities in the definition of physical inactivity. A cross-sectional study was conducted in the population aged 16 years and older (n=19,235). Physical activity was assessed by the Minnesota Questionnaire. In 2011, inactivity was estimated by including daily activities. Between 2007 and 2011, the prevalence of inactivity in Galicia remained stable (p=0.249) and close to 50%. This prevalence was higher among women and those who worked or were in education. Inactivity decreased from 47% to 16% when non-leisure time activities were included in the definition. Between 2007 and 2011 in Galicia, the prevalence of inactivity remained high and stable. This prevalence was significantly decreased when non-leisure time activities were included in the definition. Copyright © 2014 SESPAS. Published by Elsevier Espana. All rights reserved.

  14. Low postprandial circulating inactive ghrelin: role of early satiety in undernourished children.

    Science.gov (United States)

    Najib, Khadijehsadat; Moghtaderi, Mozhgan; Farjadian, Shirin; Falahzadeh, Ebrahim

    2014-11-01

    To determine difference in the levels of circulating inactive ghrelin between undernourished and healthy children. The present cross-sectional study was conducted in undernourished children from southwestern Iran, from July 2011 through July 2012. Postprandial inactive ghrelin levels were measured in 40 undernourished children and sex- and age-matched healthy controls by enzyme immunoassay. The levels of postprandial inactive ghrelin were considerably lower in undernourished compared to the healthy children (6.4 vs. 12.9, P < 0.001). Among the undernourished children, the level of inactive ghrelin was significantly lower in girls than in boys (5.8 vs. 7.1, P = 0.032). Thus, the levels of inactive ghrelin was found to be low in undernourished children compared to healthy children. Early loss of appetite might be a result of low circulating inactive ghrelin levels in the postprandial state in undernourished children.

  15. Calculating a checksum with inactive networking components in a computing system

    Science.gov (United States)

    Aho, Michael E; Chen, Dong; Eisley, Noel A; Gooding, Thomas M; Heidelberger, Philip; Tauferner, Andrew T

    2014-12-16

    Calculating a checksum utilizing inactive networking components in a computing system, including: identifying, by a checksum distribution manager, an inactive networking component, wherein the inactive networking component includes a checksum calculation engine for computing a checksum; sending, to the inactive networking component by the checksum distribution manager, metadata describing a block of data to be transmitted by an active networking component; calculating, by the inactive networking component, a checksum for the block of data; transmitting, to the checksum distribution manager from the inactive networking component, the checksum for the block of data; and sending, by the active networking component, a data communications message that includes the block of data and the checksum for the block of data.

  16. Redox-inactive metal ions promoted the catalytic reactivity of non-heme manganese complexes towards oxygen atom transfer.

    Science.gov (United States)

    Choe, Cholho; Yang, Ling; Lv, Zhanao; Mo, Wanling; Chen, Zhuqi; Li, Guangxin; Yin, Guochuan

    2015-05-21

    Redox-inactive metal ions can modulate the reactivity of redox-active metal ions in a variety of biological and chemical oxidations. Many synthetic models have been developed to help address the elusive roles of these redox-inactive metal ions. Using a non-heme manganese(II) complex as the model, the influence of redox-inactive metal ions as a Lewis acid on its catalytic efficiency in oxygen atom transfer was investigated. In the absence of redox-inactive metal ions, the manganese(II) catalyst is very sluggish, for example, in cyclooctene epoxidation, providing only 9.9% conversion with 4.1% yield of epoxide. However, addition of 2 equiv. of Al(3+) to the manganese(II) catalyst sharply improves the epoxidation, providing up to 97.8% conversion with 91.4% yield of epoxide. EPR studies of the manganese(II) catalyst in the presence of an oxidant reveal a 16-line hyperfine structure centered at g = 2.0, clearly indicating the formation of a mixed valent di-μ-oxo-bridged diamond core, Mn(III)-(μ-O)2-Mn(IV). The presence of a Lewis acid like Al(3+) causes the dissociation of this diamond Mn(III)-(μ-O)2-Mn(IV) core to form monomeric manganese(iv) species which is responsible for improved epoxidation efficiency. This promotional effect has also been observed in other manganese complexes bearing various non-heme ligands. The findings presented here have provided a promising strategy to explore the catalytic reactivity of some di-μ-oxo-bridged complexes by adding non-redox metal ions to in situ dissociate those dimeric cores and may also provide clues to understand the mechanism of methane monooxygenase which has a similar diiron diamond core as the intermediate.

  17. Linking Geology and Microbiology: Inactive Pockmarks Affect Sediment Microbial Community Structure

    OpenAIRE

    Haverkamp, Thomas H. A.; Hammer, Øyvind; Jakobsen, Kjetill S.

    2014-01-01

    Pockmarks are geological features that are found on the bottom of lakes and oceans all over the globe. Some are active, seeping oil or methane, while others are inactive. Active pockmarks are well studied since they harbor specialized microbial communities that proliferate on the seeping compounds. Such communities are not found in inactive pockmarks. Interestingly, inactive pockmarks are known to have different macrofaunal communities compared to the surrounding sediments. It is undetermined...

  18. Loss of RNA expression and allele-specific expression associated with congenital heart disease

    Science.gov (United States)

    McKean, David M.; Homsy, Jason; Wakimoto, Hiroko; Patel, Neil; Gorham, Joshua; DePalma, Steven R.; Ware, James S.; Zaidi, Samir; Ma, Wenji; Patel, Nihir; Lifton, Richard P.; Chung, Wendy K.; Kim, Richard; Shen, Yufeng; Brueckner, Martina; Goldmuntz, Elizabeth; Sharp, Andrew J.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, J. G.

    2016-01-01

    Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects. Here we show that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression—this cardiac-specific phenomenon seems unrelated to CHD. Further, compared with control subjects, CHD subjects have a significant burden of both LOE genes and ASE events associated with altered gene expression. These studies identify FGFBP2, LBH, RBFOX2, SGSM1 and ZBTB16 as candidate CHD genes because of significantly altered transcriptional expression. PMID:27670201

  19. Microsatellite D21D210 (GT-12) allele frequencies in sporadic Alzheimer's disease

    International Nuclear Information System (INIS)

    Lannfelt, L.; Lilius, L.; Viitanen, M.; Winblad, B.; Basun, H.; Houlden, H.; Rossor, M.; Hardy, J.

    1995-01-01

    Four disease-causing mutations have so far been described in the amyloid precursor protein gene on chromosome 21 in familial early-onset Alzheimer's disease. Linkage analysis with a fourteen-allele microsatellite at D21S210 named GT-12 has proven useful in the elucidation of amyloid presursor protein gene involvement in Alzheimer's disease families, as it is closely linked to the gene. Most cases of Alzheimer's disease are thought to be sporadic and not familial. However, evidence from earlier studies suggests an important genetic contribution also in sporadic cases, where gene-environment interaction may contribute to the disease. We have determined frequencies of the GT-12 alleles in 78 Swedish and 49 British sporadic Alzheimer's disease cases and 104 healthy elderly control subjects, to investigate if the disease associates with a particular genotype in GT-12. However, no differences in allele frequencies were observed between any of the groups. (au) (26 refs.)

  20. Allele-specific KRT1 expression is a complex trait.

    Directory of Open Access Journals (Sweden)

    Heng Tao

    2006-06-01

    Full Text Available The differential expression of alleles occurs commonly in humans and is likely an important genetic factor underlying heritable differences in phenotypic traits. Understanding the molecular basis of allelic expression differences is thus an important challenge. Although many genes have been shown to display differential allelic expression, this is the first study to examine in detail the cumulative effects of multiple cis-regulatory polymorphisms responsible for allele-specific expression differences. We have used a variety of experimental approaches to identify and characterize cis-regulatory polymorphisms responsible for the extreme allele-specific expression differences of keratin-1 (KRT1 in human white blood cells. The combined data from our analyses provide strong evidence that the KRT1 allelic expression differences result from the haplotypic combinations and interactions of five cis-regulatory single nucleotide polymorphisms (SNPs whose alleles differ in their affinity to bind transcription factors and modulate KRT1 promoter activity. Two of these cis-regulatory SNPs bind transcriptional activators with the alleles on the high-expressing KRT1 haplotype pattern having a higher affinity than the alleles on the low-expressing haplotype pattern. In contrast, the other three cis-regulatory SNPs bind transcriptional inhibitors with the alleles on the low-expressing haplotype pattern having a higher affinity than the alleles on the high-expressing haplotype pattern. Our study provides important new insights into the degree of complexity that the cis-regulatory sequences responsible for allele-specific transcriptional regulation have. These data suggest that allelic expression differences result from the cumulative contribution of multiple DNA sequence polymorphisms, with each having a small effect, and that allele-specific expression can thus be viewed as a complex trait.

  1. Demography can favour female-advantageous alleles

    Science.gov (United States)

    Harts, Anna M. F.; Schwanz, Lisa E.; Kokko, Hanna

    2014-01-01

    When female fecundity is relatively independent of male abundance, while male reproduction is proportional to female abundance, females have a larger effect on population dynamics than males (i.e. female demographic dominance). This population dynamic phenomenon might not appear to influence evolution, because male and female genomes still contribute equally much to the next generation. However, here we examine two evolutionary scenarios to provide a proof of principle that spatial structure can make female demographic dominance matter. Our two simulation models combine dispersal evolution with local adaptation subjected to intralocus sexual conflict and environmentally driven sex ratio biases, respectively. Both models have equilibria where one environment (without being intrinsically poorer) has so few reproductive females that trait evolution becomes disproportionately determined by those environments where females survive better (intralocus sexual conflict model), or where daughters are overproduced (environmental sex determination model). Surprisingly, however, the two facts that selection favours alleles that benefit females, and population growth is improved when female fitness is high, together do not imply that all measures of population performance are improved. The sex-specificity of the source–sink dynamics predicts that populations can evolve to fail to persist in habitats where alleles do poorly when expressed in females. PMID:25056617

  2. Exquisite allele discrimination by toehold hairpin primers

    Science.gov (United States)

    Byrom, Michelle; Bhadra, Sanchita; Jiang, Yu Sherry; Ellington, Andrew D.

    2014-01-01

    The ability to detect and monitor single nucleotide polymorphisms (SNPs) in biological samples is an enabling research and clinical tool. We have developed a surprising, inexpensive primer design method that provides exquisite discrimination between SNPs. The field of DNA computation is largely reliant on using so-called toeholds to initiate strand displacement reactions, leading to the execution of kinetically trapped circuits. We have now similarly found that the short toehold sequence to a target of interest can initiate both strand displacement within the hairpin and extension of the primer by a polymerase, both of which will further stabilize the primer:template complex. However, if the short toehold does not bind, neither of these events can readily occur and thus amplification should not occur. Toehold hairpin primers were used to detect drug resistance alleles in two genes, rpoB and katG, in the Mycobacterium tuberculosis genome, and ten alleles in the Escherichia coli genome. During real-time PCR, the primers discriminate between mismatched templates with Cq delays that are frequently so large that the presence or absence of mismatches is essentially a ‘yes/no’ answer. PMID:24990378

  3. Plasminogen alleles influence susceptibility to invasive aspergillosis.

    Directory of Open Access Journals (Sweden)

    Aimee K Zaas

    2008-06-01

    Full Text Available Invasive aspergillosis (IA is a common and life-threatening infection in immunocompromised individuals. A number of environmental and epidemiologic risk factors for developing IA have been identified. However, genetic factors that affect risk for developing IA have not been clearly identified. We report that host genetic differences influence outcome following establishment of pulmonary aspergillosis in an exogenously immune suppressed mouse model. Computational haplotype-based genetic analysis indicated that genetic variation within the biologically plausible positional candidate gene plasminogen (Plg; Gene ID 18855 correlated with murine outcome. There was a single nonsynonymous coding change (Gly110Ser where the minor allele was found in all of the susceptible strains, but not in the resistant strains. A nonsynonymous single nucleotide polymorphism (Asp472Asn was also identified in the human homolog (PLG; Gene ID 5340. An association study within a cohort of 236 allogeneic hematopoietic stem cell transplant (HSCT recipients revealed that alleles at this SNP significantly affected the risk of developing IA after HSCT. Furthermore, we demonstrated that plasminogen directly binds to Aspergillus fumigatus. We propose that genetic variation within the plasminogen pathway influences the pathogenesis of this invasive fungal infection.

  4. Brazilian quilombos: A repository of Amerindian alleles.

    Science.gov (United States)

    Gontijo, Carolina Carvalho; Guerra Amorim, Carlos Eduardo; Godinho, Neide Maria Oliveira; Toledo, Rafaela Cesare Parmezan; Nunes, Adriana; Silva, Wellington; Da Fonseca Moura, Maria Manuela; De Oliveira, José Carlos Coutinho; Pagotto, Rubiani C; Klautau-Guimarães, Maria De Nazaré; De Oliveira, Silviene Fabiana

    2014-01-01

    As a consequence of colonization of the Americas and decimation of the native population, an important portion of autochthonous genetic variation has been lost. However, some alleles have been incorporated into the growing populations of admixed mestizos. In this study, we evaluated the potential of African-derived communities in Brazil to be repositories of Amerindian alleles and, by extension, a source of information on American prehistory. In this study, we describe the genetic variation of 15 ancestry informative markers (AIMs) of autosomal origin in two quilombos, Brazilian populations mainly of African descent, Santo Antônio do Guaporé (SAG; N = 31), and Santiago do Iguape (STI; N = 37). We compared the AIMs from these populations to those of other African-Brazilian populations, and to the Distrito Federal (N = 168), an urban population representative of Brazilian genetic diversity. By admixture analysis, we found that the SAG and STI communities have a much higher proportion (over 40%) of Amerindian contribution to their gene pools than other admixed Brazilian populations, in addition to marked African contributions. These results identify two living African-Brazilian populations that carry unique and important genetic information regarding Amerindian history. These populations will be extremely valuable in future investigations into American pre-history and Native American evolutionary dynamics. Copyright © 2014 Wiley Periodicals, Inc.

  5. Structure of allelic variants of subtype 5 of histone H1 in pea Pisum sativum L.

    Science.gov (United States)

    Bogdanova, V S; Lester, D R; Berdnikov, V A; Andersson, I

    2005-06-01

    The pea genome contains seven histone H1 genes encoding different subtypes. Previously, the DNA sequence of only one gene, His1, coding for the subtype H1-1, had been identified. We isolated a histone H1 allele from a pea genomic DNA library. Data from the electrophoretic mobility of the pea H1 subtypes and their N-bromosuccinimide cleavage products indicated that the newly isolated gene corresponded to the H1-5 subtype encoded by His5. We confirmed this result by sequencing the gene from three pea lines with H1-5 allelic variants of altered electrophoretic mobility. The allele of the slow H1-5 variant differed from the standard allele by a nucleotide substitution that caused the replacement of the positively charged lysine with asparagine in the DNA-interacting domain of the histone molecule. A temperature-related occurrence had previously been demonstrated for this H1-5 variant in a study on a worldwide collection of pea germplasm. The variant tended to occur at higher frequencies in geographic regions with a cold climate. The fast allelic variant of H1-5 displayed a deletion resulting in the loss of a duplicated pentapeptide in the C-terminal domain.

  6. Osteogensis imperfecta type I is commonly due to a COLIAI null allel of type I collagen

    Energy Technology Data Exchange (ETDEWEB)

    Willing, M.C.; Pruchno, C.J. (Univ. of Iowa, Iowa City, IA (United States)); Atkinson, M.; Byers, P.H. (Univ. of Washington, Seattle, WA (United States))

    1992-09-01

    Dermal fibroblasts from most individuals with osteogenesis imperfecta (OI) type I produce about half the normal amount of type I procollagen, as a result of decreased synthesis of one of its constituent chains, pro[alpha](I). To test the hypothesis that decreased synthesis of pro[alpha](I) chains results from mutations in the COL1A1 gene, the authors used primer extension with nucleotide-specific chain termination to measure the contribution of individual COL1A1 alleles to the mRNA pool in fibroblasts from affected individuals. A polymorphic Mn/I restriction endonuclease site in the 3'-untranslated region of COL1A1 was used to distinguish the transcripts of the two alleles in heterozygous individuals. Twenty-three individuals from 21 unrelated families were studied. In each case there was marked diminution in steady-state mRNA levels from one COL1A2 allele. Loss of an allele through deletion or rearrangement was not the cause of the diminished COL1A1 mRNA levels. Primer extension with nucleotide-specific chain termination allows identification of the mutant COL1A1 allele in cell strains that are heterozygous for an expressed polymorphism. It is applicable to sporadic cases, to small families, and to large families in whom key individuals are uninformative at the polymorphic sites used in linkage analysis, making it a useful adjunct to the biochemical screening of collagenous proteins for OI. 40 refs., 3 figs., 1 tab.

  7. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening

    Energy Technology Data Exchange (ETDEWEB)

    Triggs-Raine, B.L.; Akerman, B.R.; Gravel, R.A. (McGill Univ.-Montreal Children' s Hospital Research Institute, Montreal, Quebec (Canada)); Mules, E.H.; Thomas, G.H.; Dowling, C.E. (Johns Hopkins School of Medicine, Baltimore, MD (United States)); Kaback, M.M.; Lim-Steele, J.S.T. (Univ. of California, San Diego, CA (United States)); Natowicz, M.R. (Eunice Kennedy Shriver Center for Mental Retardation, Waltham, MA (United States)); Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Navon, R.R. (Tel-Aviv Univ., Kfar-Sava (Israel)); Welch, J.P. (Dalhousie Univ., Halifax, Nova, Scotia (Canada)); Greenberg, C.R. (Univ. of Manitoba, Winnipeg (Canada))

    1992-10-01

    Deficiency of [beta]-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. The authors analyzed the HEXA gene of one pseudodeficient subject and identified both a C[sub 739]-to-T substitution that changes Arg[sub 247][yields]Trp on one allele and a previously identified Tay-Sachs disease mutation of the second allele. Six additional pseudodeficient subjects were found to have the C[sub 739]-to-T but for none of 36 Jewish enzyme-defined carries who did not have one of three known mutations common to this group. The C[sub 739]-to-T allele, together with a [open quotes]true[close quotes] Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C[sub 739]-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses. 40 refs., 3 figs., 4 tabs.

  8. Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa

    Directory of Open Access Journals (Sweden)

    Māreta Audere

    2015-01-01

    Full Text Available Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.

  9. Depression, smoking, physical inactivity and season independently associated with midnight salivary cortisol in type 1 diabetes.

    Science.gov (United States)

    Melin, Eva O; Thunander, Maria; Landin-Olsson, Mona; Hillman, Magnus; Thulesius, Hans O

    2014-09-16

    Disturbances of the circadian rhythm of cortisol secretion are associated with depression, coronary calcification, and higher all-cause and cardiovascular mortality.The primary aim of this study was to test the associations between midnight salivary cortisol (MSC), depression and HbA1c, and control for behavioural, environmental and intra individual factors with possible impact on cortisol secretion, like smoking, physical inactivity, season, medication, diabetes duration, severe hypoglycemia episodes, age and gender in patients with type 1 diabetes. Secondary aims were to present MSC levels for a reference group of non-depressed type 1 diabetes patients with a healthy life style (physically active and non-smoking), and to explore seasonal variations. A cross-sectional population based study of 196 patients (54% men and 46% women) aged 18-59 years that participated in a randomized controlled trial targeting depression in type 1 diabetes. Depression was assessed by the Hospital Anxiety and Depression Scale-depression subscale. MSC, HbA1c, serum-lipids, blood pressure, waist circumference and data from medical records and the Swedish National Diabetes Registry were collected. Thirty four patients (17%) had MSC ≥9.3 nmol/L, which was associated with smoking (AOR 5.5), spring season (AOR 4.3), physical inactivity (AOR 3.9), self-reported depression (AOR 3.1), and older age (per year) (AOR 1.08). HbA1c >70 mmol/mol (>8.6%) (AOR 4.2) and MSC ≥9.3 nmol/L (AOR 4.4) were independently linked to self-reported depression. Season was strongly associated with MSC levels and no other variables studied showed seasonal variations. In a reference group of 137 non-depressed patients with a healthy life style (physically active, non-smoking) the median MSC level was 4.6 nmol/L (range 1.9-23.0). In this study of patients with type 1 diabetes high MSC was linked to smoking, physical inactivity, depression, season and older age. Thus a high cortisol value identified three major

  10. Association between Natural Resources for OutdoorActivities and Physical Inactivity

    Data.gov (United States)

    U.S. Environmental Protection Agency — it includes available natural resources for outdoor activities, Physical inactivity and households income. This dataset is associated with the following publication:...

  11. Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences.

    Directory of Open Access Journals (Sweden)

    Anne Rieusset

    Full Text Available Genomic imprinting is a process that causes genes to be expressed from one allele only according to parental origin, the other allele being silent. Diseases can arise when the normally active alleles are not expressed. In this context, low level of expression of the normally silent alleles has been considered as genetic noise although such expression has never been further studied. Prader-Willi Syndrome (PWS is a neurodevelopmental disease involving imprinted genes, including NDN, which are only expressed from the paternally inherited allele, with the maternally inherited allele silent. We present the first in-depth study of the low expression of a normally silent imprinted allele, in pathological context. Using a variety of qualitative and quantitative approaches and comparing wild-type, heterozygous and homozygous mice deleted for Ndn, we show that, in absence of the paternal Ndn allele, the maternal Ndn allele is expressed at an extremely low level with a high degree of non-genetic heterogeneity. The level of this expression is sex-dependent and shows transgenerational epigenetic inheritance. In about 50% of mutant mice, this expression reduces birth lethality and severity of the breathing deficiency, correlated with a reduction in the loss of serotonergic neurons. In wild-type brains, the maternal Ndn allele is never expressed. However, using several mouse models, we reveal a competition between non-imprinted Ndn promoters which results in monoallelic (paternal or maternal Ndn expression, suggesting that Ndn allelic exclusion occurs in the absence of imprinting regulation. Importantly, specific expression of the maternal NDN allele is also detected in post-mortem brain samples of PWS individuals. Our data reveal an unexpected epigenetic flexibility of PWS imprinted genes that could be exploited to reactivate the functional but dormant maternal alleles in PWS. Overall our results reveal high non-genetic heterogeneity between genetically

  12. Circumnuclear Dust in Nearby Active and Inactive Galaxies. I. Data

    Science.gov (United States)

    Martini, Paul; Regan, Michael W.; Mulchaey, John S.; Pogge, Richard W.

    2003-06-01

    The detailed morphology of the interstellar medium (ISM) in the central kiloparsec of galaxies is controlled by pressure and gravitation. The combination of these forces shapes both circumnuclear star formation and the growth of the central, supermassive black hole. We present visible and near-infrared Hubble Space Telescope images and color maps of 123 nearby galaxies that show the distribution of the cold ISM, as traced by dust, with excellent spatial resolution. These observations reveal that nuclear dust spirals are found in the majority of active and inactive galaxies and they possess a wide range in coherence, symmetry, and pitch angle. We have used this large sample to develop a classification system for circumnuclear dust structures. In spite of the heterogeneous nature of the complete sample, we only find symmetric, two-arm nuclear dust spirals in galaxies with large-scale bars, and these dust lanes clearly connect to dust lanes along the leading edges of the large-scale bars. Not all dust lanes along large-scale bars form two-arm spirals, however, and several instead end in nuclear rings. We find that tightly wound, or low pitch angle, nuclear dust spirals are more common in unbarred galaxies than barred galaxies. Finally, the extended narrow-line region in several of the active galaxies is well resolved. The connection between the ionized gas and circumnuclear dust lanes in four of these galaxies provides additional evidence that a significant fraction of their extended narrow-line region is ambient gas photoionized in situ by the active nucleus. In a future paper we will use our classification system for circumnuclear dust to identify differences between active and inactive galaxies, as well as barred and unbarred galaxies, in well-matched subsamples of these data. Based on observations with the NASA/ESA Hubble Space Telescope obtained at the Space Telescope Science Institute, which is operated by the Association of Universities for Research in

  13. An allelic variant of congenital Salih myopathy

    Directory of Open Access Journals (Sweden)

    M. S. Belenikin

    2015-01-01

    Full Text Available The paper describes the steps and problems of diagnosing congenital myopathy with early respiratory disorders. While differentially diagnosing, the authors consider congenital myopathies, in which early cardiac involvement is encountered. Since the course of the disease in an observed female patient differed from that of such nosological entities and appeared as not only muscle weakness, but also as early respiratory disorders, we could not identify what nosological entity the disease belonged to in view of its clinical presentation and the results of muscle histological examination and we decided to perform exome sequencing. Molecular genetic testing could find heterozygous mutations in the titin (TTN gene. The findings are suggestive of congenital proximal myopathy with early respiratory failure, which is an allelic variant of Salih myopathy. This case is the first and so far only description of this disease in Russia. 

  14. Allelic diversity of S-RNase alleles in diploid potato species.

    Science.gov (United States)

    Dzidzienyo, Daniel K; Bryan, Glenn J; Wilde, Gail; Robbins, Timothy P

    2016-10-01

    The S-ribonuclease sequences of 16 S-alleles derived from diploid types of Solanum are presented. A phylogenetic analysis and partial phenotypic analysis support the conclusion that these are functional S-alleles. S-Ribonucleases (S-RNases) control the pistil specificity of the self-incompatibility (SI) response in the genus Solanum and several other members of the Solanaceae. The nucleotide sequences of S-RNases corresponding to a large number of S-alleles or S-haplotypes have been characterised. However, surprisingly, few S-RNase sequences are available for potato species. The identification of new S-alleles in diploid potato species is desirable as these stocks are important sources of traits such as biotic and abiotic resistance. S-RNase sequences are reported here from three distinct diploid types of potato: cultivated Solanum tuberosum Group Phureja, S. tuberosum Group Stenotomum, and the wild species Solanum okadae. Partial S-RNase sequences were obtained from pistil RNA by RT-PCR or 3'RACE (Rapid Amplification of cDNA Ends) using a degenerate primer. Full-length sequences were obtained for two alleles by 5'RACE. Database searches with these sequences identified 16 S-RNases in total, all of which are novel. The sequence analysis revealed all the expected features of functional S-RNases. Phylogenetic analysis with selected published S-RNase and S-like-RNase sequences from the Solanaceae revealed extensive trans-generic evolution of the S-RNases and a clear distinction from S-like-RNases. Pollination tests were used to confirm the self-incompatibility status and cross-compatibility relationships of the S. okadae accessions. All the S. okadae accessions were found to be self-incompatible as expected with crosses amongst them exhibiting both cross-compatibility and semi-compatibility consistent with the S-genotypes determined from the S-RNase sequence data. The progeny analysis of four semi-compatible crosses examined by allele-specific PCR provided further

  15. Radioactive spheres without inactive wall for lesion simulation in PET

    International Nuclear Information System (INIS)

    Bazanez-Borgert, M.; Bundschuh, R.A.; Herz, M.; Martinez, M.J.; Schwaiger, M.; Ziegler, S.I.

    2008-01-01

    With the growing importance of PET and PET/CT in diagnosis, staging, therapy monitoring and radiotherapy planning, appropriate tools to simulate lesions in phantoms are important. Normally hollow spheres, made of plastic or glass, which can be filled with radioactive solutions, are used. As these spheres have an inactive wall they do not reflect the real situation in the patient and lead to quantification errors in the presence of background activity. We propose spheres made of radioactive wax, which are easy to produce, give a high flexibility to the user and a more accurate quantification. These wax spheres were evaluated for their applicability in PET phantoms and it was found that the activity is not diffusing into the surrounding water in relevant quantities, that they show a sufficient homogeneity, and that their attenuation properties are equivalent to water for photons of PET energies. Recovery coefficients for the wax spheres were measured and compared with those obtained for fillable plastic spheres for diameters of 28, 16, 10, and 6 mm in the presence of background activity. Recovery coefficients of the wax spheres were found to be up to 21% higher than for the fillable spheres. (orig.)

  16. Physical Activity, Inactivity and Health During Youth-2016.

    Science.gov (United States)

    Rowlands, Alex V

    2017-02-01

    2016 has been an exciting year for research in physical activity, inactivity and health. Recognition of the importance of all physical behaviors (physical activity, sedentary time and sleep) across the 24-hr day continues to grow. Notable advances have included: applications of recent methodological innovations that account for the codependence of the behaviors in the finite 24-hr period showing that the balance of these behaviors is associated with health; methodological innovations focusing on the classification of behaviors and/or quantification of the 24-hr diurnal activity pattern; and a series of systematic reviews that helped provide the evidence base for the release of the innovative 24-hr movement guidelines earlier this year. This commentary focuses on just two of these papers: the first by Goldsmith and colleagues who demonstrate a new statistical method that exploits the time series nature of accelerometer data facilitating new insights into time-specific determinants of children's activity patterns and associations with health; the second by Tremblay and colleagues who describe the evidence base for associations between each physical behavior and children's health, the emerging evidence base for associations between the balance of behaviors and health, and development of the world's first 24-hr movement guidelines.

  17. Physical inactivity, neurological disability, and cardiorespiratory fitness in multiple sclerosis.

    Science.gov (United States)

    Motl, R W; Goldman, M

    2011-02-01

    We examined the associations among physical activity, neurological disability, and cardiorespiratory fitness in two studies of individuals with multiple sclerosis (MS). Study 1 included 25 women with relapsing-remitting MS (RRMS) who undertook an incremental exercise test for measuring peak oxygen (VO₂(peak) ) consumption, wore an accelerometer during a 7-day period, and completed the Godin Leisure-Time Exercise Questionnaire (GLTEQ). Study 2 was a follow-up of Study 1 and included 24 women with RRMS who completed the self-reported Expanded Disability Status Scale (EDSS), undertook an incremental exercise test, wore an accelerometer during a 7-day period, and completed the GLTEQ. Study 1 indicated that VO₂(peak) was significantly correlated with accelerometer counts (pr = 0.69) and GLTEQ scores (pr = 0.63) even after controlling for age and MS duration. Study 2 indicated that VO₂(peak) was significantly correlated with accelerometer counts (pr = 0.50), GLTEQ scores (pr = 0.59), and EDSS scores (pr = -0.43) even after controlling for age and MS duration; there was a moderate partial correlation between accelerometer counts and EDSS scores (pr = -0.43). Multiple linear regression analysis indicated that both accelerometer counts (β = 0.32) and EDSS scores (β = -0.40) had statistically significant associations with VO₂(peak). The findings indicate that physical inactivity and neurological disability might represent independent risk factors for reduced levels of cardiorespiratory fitness in this population. © 2010 John Wiley & Sons A/S.

  18. Is the Canadian childhood obesity epidemic related to physical inactivity?

    Science.gov (United States)

    Tremblay, M S; Willms, J D

    2003-09-01

    This study examined the relation among children's physical activity, sedentary behaviours, and body mass index (BMI), while controlling for sex, family structure, and socioeconomic status. Epidemiological study examining the relations among physical activity participation, sedentary behaviour (video game use and television (TV)/video watching), and BMI on a nationally representative sample of Canadian children. A representative sample of Canadian children aged 7-11 (N=7216) from the 1994 National Longitudinal Survey of Children and Youth was used in the analysis. Physical activity and sport participation, sedentary behaviour (video game use and TV/video watching), and BMI measured by parental report. Both organized and unorganized sport and physical activity are negatively associated with being overweight (10-24% reduced risk) or obese (23-43% reduced risk), while TV watching and video game use are risk factors for being overweight (17-44% increased risk) or obese (10-61% increased risk). Physical activity and sedentary behaviour partially account for the association of high socioeconomic status and two-parent family structure with the likelihood of being overweight or obese. This study provides evidence supporting the link between physical inactivity and obesity of Canadian children.

  19. Associations of unhealthy lifestyle factors with sexual inactivity and sexual dysfunctions in Denmark

    DEFF Research Database (Denmark)

    Christensen, Birgitte S; Grønbaek, Morten; Pedersen, Bo V

    2011-01-01

    Studies have linked obesity, a sedentary lifestyle, and tobacco smoking to erectile dysfunction, but the evidence linking unhealthy lifestyle factors to other sexual dysfunctions or to sexual inactivity is conflicting.......Studies have linked obesity, a sedentary lifestyle, and tobacco smoking to erectile dysfunction, but the evidence linking unhealthy lifestyle factors to other sexual dysfunctions or to sexual inactivity is conflicting....

  20. Time course of arterial vascular adaptations to inactivity and paralyses in humans.

    NARCIS (Netherlands)

    Groot, P.C.E. de; Kuppevelt, D. van; Pons, C.; Snoek, G.V.E.; Woude, L.H.V. van der; Hopman, M.T.E.

    2003-01-01

    PURPOSE: The aim of the present study was to assess the time course of vascular adaptations to inactivity and paralyses in humans. The spinal cord-injured (SCI) population offers a unique "human model of nature" to assess peripheral vascular adaptations and its time course to extreme inactivity and

  1. Time course of arterial vascular adaptations to inactivity and paralyses in humans

    NARCIS (Netherlands)

    de Groot, P.C.E.; van Kuppevelt, D.; Pons, C.; van der Woude, L.H.V.; Hopman, M.T.E.

    2003-01-01

    Purpose: The aim of the present study was to assess the time course of vascular adaptations to inactivity and paralyses in humans. The spinal cord-injured (SCI) population offers a unique "human model of nature" to assess peripheral vascular adaptations and its time course to extreme inactivity and

  2. Childhood adversities and socioeconomic position as predictors of leisure-time physical inactivity in early adulthood

    NARCIS (Netherlands)

    Kestilä, Laura; Mäki-Opas, Tomi; Kunst, Anton E.; Borodulin, Katja; Rahkonen, Ossi; Prättälä, Ritva

    2015-01-01

    Limited knowledge exists on how childhood social, health-related and economic circumstances predict adult physical inactivity. Our aim was a) to examine how various childhood adversities and living conditions predict leisure-time physical inactivity in early adulthood and b) to find out whether

  3. Physical inactivity, abdominal obesity and risk of coronary heart disease in apparently healthy men and women

    NARCIS (Netherlands)

    Arsenault, B. J.; Rana, J. S.; Lemieux, I.; Després, J.-P.; Kastelein, J. J. P.; Boekholdt, S. M.; Wareham, N. J.; Khaw, K.-T.

    2010-01-01

    Objective: To test the hypothesis that for any given body mass index (BMI) category, active individuals would have a smaller waist circumference than inactive individuals. Our second objective was to examine the respective contribution of waist circumference and physical inactivity on coronary heart

  4. In Search of Lost Springs: A Protocol for Locating Active and Inactive Springs.

    Science.gov (United States)

    Fensham, R J; Silcock, J L; Powell, O; Habermehl, M A

    2016-05-01

    Groundwater springs are significant landscape features for humans and the biota that occupies their habitat. Many springs become inactive where groundwater exploitation by humans has lowered the water table or artesian pressure. In order to assess this impact, it is important to identify and locate active, and with more difficulty, inactive springs. Using a variety of archival, environmental and field-based data, this study presents a protocol for the determination of the location and status of springs across the Great Artesian Basin of Australia. This protocol underpins a database of springs, which is not only important for the assessment of spring ecosystems, but also contributes to understand groundwater extraction impacts and hydrogeological processes. The database indicates that 30.0% of discharge (artesian) springs in the Great Artesian Basin are entirely inactive and another 11.8% are partially inactive. For the outcrop (gravity) springs of the Basin, only 1.9% are entirely inactive and 7.4% partially inactive, and for the outcrop springs in the Tertiary sandstone overlying the Basin 30.9% are inactive and 18.2% are partially inactive. © 2015, National Ground Water Association.

  5. validity and reliability of a physical activity/inactivity questionnaire in ...

    African Journals Online (AJOL)

    of engaging in physical activity, sports or play. 3,12,15,27,39, .... and recorded to the nearest 0.1 mm. Percentage body fat was calculated using standard equations.11. Instruments. Physical activity/inactivity over a period of 7 days was as- sessed using a ..... benefits is required, particularly in children where inactivity and the ...

  6. 37 CFR 11.20 - Disciplinary sanctions; Transfer to disability inactive status.

    Science.gov (United States)

    2010-07-01

    ..., Investigations, and Proceedings § 11.20 Disciplinary sanctions; Transfer to disability inactive status. (a) Types...; Transfer to disability inactive status. 11.20 Section 11.20 Patents, Trademarks, and Copyrights UNITED... discipline exist, may impose on a practitioner the following types of discipline: (1) Exclusion from practice...

  7. Allele Frequency - JSNP | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available nd 39 SNPs are assayed in three (POP_*) and two (RIKEN_japanese_*) panels, respectively. Derived from Flat f... assay (JBIC-allele and RIKEN_japanese_*), TaqMan assay (RIKEN-allele) or direct sequencing / allelic discri...unteers under informed consent RIKEN_japanese_normal_weight - 711 unrelated japanese normal weight volunteer...s ( body mass index RIKEN_japanese_obese - 796 unrelated japanese obese patients

  8. Relationship between Physical Inactivity and Health Characteristics among Participants in an Employee Wellness Program

    Science.gov (United States)

    Birdee, Gurjeet S.; Byrne, Daniel W.; McGown, Paula W.; Rothman, Russell L.; Rolando, Lori A.; Holmes, Marilyn C.; Yarbrough, Mary I.

    2013-01-01

    Objective To characterize factors associated with physical inactivity among employees with access to workplace wellness program. Methods We examined data on physical inactivity, defined as exercise less than once a week, from the 2010 health risk assessment (HRA) completed by employees at a major academic institution (n=16,976). Results Among employees, 18% individuals reported physical activity less than once a week. Individuals who were physically inactive as compared with physically active reported higher prevalence of cardiovascular diseases (AOR 1.36 [1.23–1.51], fair or poor health status (AOR 3.52 [2.97–4.17]) and absenteeism from work (AOR 1.59 [1.41–1.79]). Overall, physically inactive employees as compared to physically active employees reported more interest in health education programs. Conclusions Future research is needed to address barriers to physical inactivity to improve employee wellness and potentially lower health utility costs. PMID:23618884

  9. Predictors of physical inactivity among elderly malaysians: recommendations for policy planning.

    Science.gov (United States)

    Kaur, Jasvindar; Kaur, Gurpreet; Ho, Bee Kiau; Yao, Weng Keong; Salleh, Mohmad; Lim, Kuang Hock

    2015-04-01

    Physical inactivity is the fourth leading risk factor for global mortality. Regular moderate-intensity physical activity has significant benefits for health. To determine the socioeconomic predictors of physical inactivity among elderly Malaysian population. A nationwide community-based survey was conducted among 4831 respondents aged ≥60 years with a face-to-face questionnaire. The prevalence of physical inactivity among the elderly was 88.0%, highest in respondents aged older than 80 years (95.4%), females (90.1%), other Bumiputra (92.2%), earning household income less than RM1000 (87.9%), and residing in urban locality (88.4%). In the multivariate model, the predictors of physical inactivity were only sex, ethnicity, locality, and age group (adjusted odds ratio = 1.3-3.6). The predictors of physical inactivity can identify the risk factors to develop policies that will reduce the public health burden of noncommunicable diseases. © 2014 APJPH.

  10. ABO locus O1 allele and risk of myocardial infarction.

    Science.gov (United States)

    von Beckerath, Nicolas; Koch, Werner; Mehilli, Julinda; Gorchakova, Olga; Braun, Siegmund; Schömig, Albert; Kastrati, Adnan

    2004-01-01

    An association between ABO blood group and myocardial infarction (MI) has been described. One probable mechanism underlying this association is the influence of ABO blood group on plasma von Willebrand factor (vWF) levels. We conducted this genetic study to test whether the ABO O1 allele is associated with low vWF plasma levels and with a reduced risk of MI. Cases consisted of 793 consecutive, angiographically examined patients with either acute or prior MI. As controls served 340 angiographically examined patients with neither coronary artery disease nor signs of MI. ABO1 locus alleles (A1, A2, B, O1, O2) were identified with polymerase chain reaction and fluorogenic probes. The distribution of O1 alleles in the MI group versus the control group was: no O1 allele (15.4%/10.0%), one O1 allele (49.7%/50.0%) and two O1 alleles (34.9%/40.0%) (P = 0.035). O1 allele carriage was associated with a 39% reduction in the risk of MI unadjusted odds ratio, 0.61; 95% confidence interval, 0.41-0.91). The significant association was maintained after adjustment for other cardiovascular risk factors. vWF antigen levels correlated with the number of O1 alleles (P = 0.00003) in a separate control group (n = 164). Carriage of the O1 allele is associated with a decreased risk of myocardial infarction, with homozygosity providing the greatest protection. Copyright 2004 Lippincott Williams and Wilkins

  11. A novel HLA-A allele: A*0257.

    Science.gov (United States)

    García-Ortiz, J E; Cox, S T; Sandoval-Ramirez, L; Little, A M; Marsh, S G E; Madrigal, J A; Argüello, J R

    2004-01-01

    A novel human leucocyte antigen-A*02 (HLA-A*02) allele was detected by reference strand-mediated conformation analysis (RSCA) of a DNA sample from a Tarahumara individual. Direct sequencing of HLA-A locus polymerase chain reaction products identified a mutation in one of the alleles. Cloning and sequencing confirmed the presence of a new allele, A*0257 which differed from A*0206 by two nucleotides at positions 355 and 362, inducing changes in residues 95 and 97, respectively, within the peptide-binding site. Those changes suggest that allele A*0257 may have resulted from an intralocus recombination event.

  12. Geographical Variations in the Environmental Determinants of Physical Inactivity among U.S. Adults.

    Science.gov (United States)

    An, Ruopeng; Li, Xinye; Jiang, Ning

    2017-10-31

    Physical inactivity is a major modifiable risk factor for morbidity, disability and premature mortality worldwide. This study assessed the geographical variations in the impact of environmental quality on physical inactivity among U.S. adults. Data on county-level prevalence of leisure-time physical inactivity came from the Behavioral Risk Factor Surveillance System. County environment was measured by the Environmental Quality Index (EQI), a comprehensive index of environmental conditions that affect human health. The overall EQI consists of five subdomains-air, water, land, social, and built environment. Geographically weighted regressions (GWRs) were performed to estimate and map county-specific impact of overall EQI and its five subdomains on physical inactivity prevalence. The prevalence of leisure-time physical inactivity among U.S. counties was 25% in 2005. On average, one standard deviation decrease in the overall EQI was associated with an increase in county-level prevalence of leisure-time physical inactivity by nearly 1%. However, substantial geographical variations in the estimated environmental determinants of physical inactivity were present. The estimated changes of county-level prevalence of leisure-time physical inactivity resulted from one standard deviation decrease of the overall EQI ranged from an increase of over 3% to a decrease of nearly 2% across U.S. counties. Analogous, the estimated changes of county-level prevalence of leisure-time physical inactivity resulted from one standard deviation decrease of the EQI air, water, land, social, and built environment subdomains ranged from an increase of 2.6%, 1.5%, 2.9%, 3.3%, and 1.7% to a decrease of 2.9%, 1.4%, 2.4%, 2.4%, and 0.8% across U.S. counties, respectively. Given the substantial heterogeneities in the environmental determinants of physical inactivity, locally customized physical activity interventions are warranted to address the most concerning area-specific environmental issue.

  13. Physical inactivity displays a mediator role in the association of diabetes and poverty: A spatiotemporal analysis

    Directory of Open Access Journals (Sweden)

    Lung-Chang Chien

    2017-11-01

    Full Text Available Physical inactivity is one of the risk factors of diabetes. In addition, physical inactivity is attributed to urbanization-related factors, such as poverty, which is also one of the risk factors of diabetes. We hypothesized that physical inactivity is a mediator in the association between diabetes and poverty, and that spatial heterogeneity exists in these relationships. This study adopted a spatiotemporal modelling approach to conduct this mediator analysis. From 2004-2011, data were collected at the county level in 48 contiguous states (with a total of 3,109 counties from the Behavioral Risk Factor Surveillance System (BRFSS and American Community Survey. Poverty percentage significantly affected physical inactivity prevalence and diabetes prevalence in two separate models. Using a model with both physical inactivity and poverty percentages as independent variables, we verified that physical inactivity prevalence is a significant mediator. In this model, physical inactivity prevalence resulted in a significant positive association with diabetes prevalence, and the influence of poverty percentage on diabetes prevalence was significantly reduced (P=0.0009. An advanced spatiotemporal analysis revealed that 32.65% of counties having a significant positive association between diabetes prevalence and physical inactivity prevalence also had a significant positive association between physical inactivity prevalence and poverty percentage. Those counties were also likely located in the South and Southeast of USA. In summary, the findings of this study demonstrate the mediating effect of physical inactivity between diabetes and poverty. When implementing diabetes prevention in communities with higher poverty, appropriate strategies to reduce the cost burden of physical activity programmes should be considered.

  14. Identification of the third/extra allele for forensic application in cases with TPOX tri-allelic pattern.

    Science.gov (United States)

    Picanço, Juliane Bentes; Raimann, Paulo Eduardo; Motta, Carlos Henrique Ares Silveira da; Rodenbusch, Rodrigo; Gusmão, Leonor; Alho, Clarice Sampaio

    2015-05-01

    Genotyping of polymorphic short tandem repeats (STRs) loci is widely used in forensic DNA analysis. STR loci eventually present tri-allelic pattern as a genotyping irregularity and, in that situation, the doubt about the tri-allele locus frequency calculation can reduce the analysis strength. In the TPOX human STR locus, tri-allelic genotypes have been reported with a widely varied frequency among human populations. We investigate whether there is a single extra allele (the third allele) in the TPOX tri-allelic pattern, what it is, and where it is, aiming to understand its genomic anatomy and to propose the knowledge of this TPOX extra allele from genetic profile, thus preserving the two standard TPOX alleles in forensic analyses. We looked for TPOX tri-allelic subjects in 75,113 Brazilian families. Considering only the parental generation (mother+father) we had 150,226 unrelated subjects evaluated. From this total, we found 88 unrelated subjects with tri-allelic pattern in the TPOX locus (0.06%; 88/150,226). Seventy three of these 88 subjects (73/88; 83%) had the Clayton's original Type 2 tri-allelic pattern (three peaks of even intensity). The remaining 17% (15/88) show a new Type 2 derived category with heterozygote peak imbalance (one double dose peak plus one regular sized peak). In this paper we present detailed data from 66 trios (mother+father+child) with true biological relationships. In 39 of these families (39/66; 59%) the extra TPOX allele was transmitted either from the mother or from the father to the child. Evidences indicated the allele 10 as the extra TPOX allele, and it is on the X chromosome. The present data, which support the previous Lane hypothesis, improve the knowledge about tri-allelic pattern of TPOX CODIS' locus allowing the use of TPOX profile in forensic analyses even when with tri-allelic pattern. This evaluation is now available for different forensic applications. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  15. Motor-Driven (Passive) Cycling: A Potential Physical Inactivity Countermeasure?

    Science.gov (United States)

    Peterman, James E.; Wright, Kenneth P.; Melanson, Edward L.; Kram, Rodger; Byrnes, William C.

    2016-01-01

    We have previously shown that motor-driven (passive) stationary cycling elevates energy expenditure (EE). Purpose To quantify how acute passive cycling affects glucose and insulin responses to an oral glucose tolerance test (OGTT) and basic cognition compared to sitting and moderate-intensity active cycling. Methods Twenty-four physically inactive healthy males completed three trials in randomized order involving 30-minute conditions of sitting, passive cycling and moderate-intensity cycling. During each condition, EE was measured and participants performed cognitive tests. Following each condition, a 2-hour OGTT was performed. Results EE was significantly higher during the cycling conditions compared to sitting (1.36±0.58 and 6.50±1.73 kcal·min−1 greater than sitting for passive and moderate-intensity, respectively). A significant correlation was found between body fat percentage and post-sitting OGTT 2-h post plasma glucose (r2=0.30, pcycling lowered 2-h post plasma glucose (7.7±1.3 vs. 6.9±1.6mmol·L−1, respectively, pcycling had similar beneficial effects on 2-h post plasma glucose and WBISI. Cognitive performance did not significantly differ between the sitting and passive cycling conditions. Conclusion 2-h post plasma glucose was lower and WBISI following acute passive cycling was higher in non-lean participants. Given that and the increase in EE without changes in cognitive performance, we propose passive cycling as a promising intervention to counteract some of the deleterious effects of prolonged sitting in the workplace. PMID:27054677

  16. Comprehensive Management Strategies for Physical Inactivity in Youth

    Science.gov (United States)

    MYER, GREGORY D.; FAIGENBAUM, AVERY D.; STRACCIOLINI, ANDREA; HEWETT, TIMOTHY E.; MICHELI, LYLE J.; BEST, THOMAS M.

    2013-01-01

    Despite the widely recognized benefits of daily play, recreation, sports, and physical education on the physical and psychosocial well-being of children and adolescents, many contemporary children and adolescents worldwide do not meet the recommendations for daily physical activity. The decline in physical activity seems to start early in life which leads to conditions characterized by reduced levels of physical activity in the pediatric population that are inconsistent with current public health recommendations. Unlike many other diseases and disorders in pediatrics, physical inactivity in youth is unique in that it currently lacks a clinical gold standard for diagnosis. This makes the diagnosis and treatment medically challenging, though no less important, as the resultant ramifications of a missed diagnosis are of significant detriment. Exercise deficient children need to be identified early in life and treated with developmentally appropriate exercise programs designed to target movement deficiencies and physical weaknesses in a supportive environment. Without such interventions early in life, children are more likely to become resistant to our interventions later in life and consequently suffer from adverse health consequences. Integrative approaches that link health care professionals, pediatric exercise specialists, school administrators, community leaders, and policy makers, may provide the best opportunity to promote daily physical activity, reinforce desirable behaviors, and educate parents about the exercise-health link. If health care providers miss the window of opportunity to identify exercise deficit disorder in youth and promote healthy lifestyle choices, the eventual decline and disinterest in physical activity will begin to take shape and new health care concerns will continue to emerge. PMID:23851413

  17. (GHRH Alleles in Iranian Sarabi Cows

    Directory of Open Access Journals (Sweden)

    mehdi khosravi

    2013-08-01

    Full Text Available Selection based on molecular markers is one of the new methods that may improve progress and accuracy of selection in animal breeding programs. The GHRH gene (Growth Hormone-releasing Hormone is a candidate gene for marker-assisted selection strategies. Polymorphs of GHRH gene are reported to be significantly associated with milk production and constituent traits. In order to study the polymorphism of GHRH gene, blood samples were collected from 112 Sarabi cows. Genomic DNA was extracted and a fragment of 297 bp in size was amplified using polymerase chain reaction. The amplified fragments were subjected to restriction digestion with HaeIII endonuclease enzyme and the resultant digested products were run on 2% Agarose gel. The results revealed the existence of two alleles of GHRH A and GHRH B for the examined locus with frequencies of 0.19 and 0.81 respectively. Three different genotypic variants including GHRH A GHRH A, GHRH A GHRH B and GHRH B GHRH B were identified with genotypic frequencies of 0.0357, 0.3037 and 0.6607 respectively. The χ2 test showed that population is in Hardy-Weinberg equilibrium (P

  18. Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations

    DEFF Research Database (Denmark)

    Grønborg, Sabine; Darin, Niklas; Miranda, Maria J

    2017-01-01

    described in heterozygous form in patients with familial paraganglioma/pheochromocytoma and/or renal cell cancer. This is only the second example in the literature where one specific SDHx mutation is associated with both recessive mitochondrial disease in one patient and familial paraganglioma......Isolated complex II deficiency is a rare cause of mitochondrial disease and bi-allelic mutations in SDHB have been identified in only a few patients with complex II deficiency and a progressive neurological phenotype with onset in infancy. On the other hand, heterozygous SDHB mutations are a well......-known cause of familial paraganglioma/pheochromocytoma and renal cell cancer. Here, we describe two additional patients with respiratory chain deficiency due to bi-allelic SDHB mutations. The patients' clinical, neuroradiological, and biochemical phenotype is discussed according to current knowledge...

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

    African Journals Online (AJOL)

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

  20. Silvicultural management and the manipulation of rare alleles

    Science.gov (United States)

    Paul G. Schaberg; Gary J. Hawley; Donald H. DeHayes; Samuel E. Nijensohn

    2004-01-01

    Because rare alleles provide a means for adaptation to environmental change they are often considered important to long-term forest health. Through the selective removal of trees (and genes), silvicultural management may alter the genetic structure of forests, with rare alleles perhaps being uniquely vulnerable to manipulation due to their low frequencies or...

  1. Allelic genealogies in sporophytic self-incompatibility systems in plants

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1998-01-01

    Expectations for the time scale and structure of allelic genealogies in finite populations are formed under three models of sporophytic self-incompatibility. The models differ in the dominance interactions among the alleles that determine the self-incompatibility phenotype: In the SSIcod model...

  2. Evolutionary dynamics of sporophytic self-incompatibility alleles in plants

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1997-01-01

    codominantly in both pollen and style (SSIcod), in the second, alleles form a dominance hierarchy in pollen and style (SSIdom). In the third model, alleles interact codominantly in the style and form a dominance hierarchy in the pollen (SSIdomcod). The SSIcod model behaves similarly to the model...

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

    African Journals Online (AJOL)

    Gourab Dewan

    2015-02-18

    Feb 18, 2015 ... Abstract Background: Allelic distribution of major blood groups (ABO and rhesus) has not been defined in Bangladeshi population. Determinants of blood group frequency in this region have not been studied properly. Aim: To determine ABO and rhesus blood group frequency and allelic distribution in a.

  4. Novel alleles of 31-bp VNTR polymorphism in the human ...

    Indian Academy of Sciences (India)

    2010-12-06

    Dec 6, 2010 ... with age at onset of Alzheimer's disease (AD). Allele 19 is related to a three-fold increased risk for developing AD at 75 years of age or older, while allele 21 is related to an almost two-fold increased risk for developing AD before 64 years of age (Beyer et al. 2004, 2005). Keywords. cystathionine β-synthase ...

  5. Estimating and testing the effect of allelic recombination on the ...

    African Journals Online (AJOL)

    Jane

    2011-01-21

    Jan 21, 2011 ... The significance of the correlation coefficient as well as the fitted regression model was obtained using. Analysis of Variance method. Key words: Allele, genotype, regression, correlation, F-ratio, analysis of variance. INTRODUCTION .... while if the allelic replacement is being made on an Aa individual the ...

  6. Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

    Science.gov (United States)

    McKusick, Victor A.; Kelly, Thaddeus E.; Dorst, John P.

    1973-01-01

    It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochondroplasia alleles. Images PMID:4697848

  7. Human minisatellite alleles detectable only after PCR amplification.

    Science.gov (United States)

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

    1992-01-01

    We present evidence that a proportion of alleles at two human minisatellite loci is undetected by standard Southern blot hybridization. In each case the missing allele(s) can be identified after PCR amplification and correspond to tandem arrays too short to detect by hybridization. At one locus, there is only one undetected allele (population frequency 0.3), which contains just three repeat units. At the second locus, there are at least five undetected alleles (total population frequency 0.9) containing 60-120 repeats; they are not detected because these tandem repeats give very poor signals when used as a probe in standard Southern blot hybridization, and also cross-hybridize with other sequences in the genome. Under these circumstances only signals from the longest tandemly repeated alleles are detectable above the nonspecific background. The structures of these loci have been compared in human and primate DNA, and at one locus the short human allele containing three repeat units is shown to be an intermediate state in the expansion of a monomeric precursor allele in primates to high copy number in the longer human arrays. We discuss the implications of such loci for studies of human populations, minisatellite isolation by cloning, and the evolution of highly variable tandem arrays.

  8. Estimation of allelic frequencies for ABO and Rh blood groups

    African Journals Online (AJOL)

    Mostafa Saadat

    2015-02-18

    Feb 18, 2015 ... Estimation of allelic frequencies for ABO and Rh blood groups. Dear Editor. Estimation of the allelic frequencies for genetic markers is very important in genetic studies. Also investigation of the concordance between observed and expected value based on the Hardy–Weinberg equilibrium (HWE) is strongly ...

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

    African Journals Online (AJOL)

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

  10. Inactive nurses in Taiwan: human capital, intention to return to hospital nursing, and incentives for returning.

    Science.gov (United States)

    Yu, Hsing-Yi; Tang, Fu-In; Chen, I-Ju; Yin, Teresa J C; Chen, Chu-Chieh; Yu, Shu

    2016-04-01

    To investigate inactive nurses' human capital, intention to return to hospital nursing and incentives for returning. Few studies have discussed the loss of human capital with regard to inactive nurses and how to attract them to return to clinical work. Systematic random sampling was used, with 328 subjects completing the mailed questionnaires, resulting in a response rate of 25.4%. Inactive nurses not only had moderate to high human capital (average years of nursing experience was 10.29, with moderate to high levels of nursing professional commitment and nursing competence) and were young. Forty-three percent of subjects reported intending to return to hospital nursing. Sufficient nurse staffing, greater safety in the working environment, and re-entry preparation programmes were incentives for returning. Recruiting inactive nurses back to hospital work is vital and feasible as inactive nurses had a moderate to high degree of human capital. The most feasible way is offering reasonable working conditions, in particular, providing sufficient staffing, a safe working environment and re-entry preparation programmes. The findings confirm the human capital of inactive nurses and provide concrete directions for nursing managers to follow when recruiting inactive nurses to hospital nursing. © 2015 John Wiley & Sons Ltd.

  11. Cause and Consequence of Tethering a SubTAD to Different Nuclear Compartments

    Science.gov (United States)

    Wijchers, Patrick J.; Krijger, Peter H.L.; Geeven, Geert; Zhu, Yun; Denker, Annette; Verstegen, Marjon J.A.M.; Valdes-Quezada, Christian; Vermeulen, Carlo; Janssen, Mark; Teunissen, Hans; Anink-Groenen, Lisette C.M.; Verschure, Pernette J.; de Laat, Wouter

    2016-01-01

    Summary Detailed genomic contact maps have revealed that chromosomes are structurally organized in megabase-sized topologically associated domains (TADs) that encompass smaller subTADs. These domains segregate in the nuclear space to form active and inactive nuclear compartments, but cause and consequence of compartmentalization are largely unknown. Here, we combined lacO/lacR binding platforms with allele-specific 4C technologies to track their precise position in the three-dimensional genome upon recruitment of NANOG, SUV39H1, or EZH2. We observed locked genomic loci resistant to spatial repositioning and unlocked loci that could be repositioned to different nuclear subcompartments with distinct chromatin signatures. Focal protein recruitment caused the entire subTAD, but not surrounding regions, to engage in new genomic contacts. Compartment switching was found uncoupled from transcription changes, and the enzymatic modification of histones per se was insufficient for repositioning. Collectively, this suggests that trans-associated factors influence three-dimensional compartmentalization independent of their cis effect on local chromatin composition and activity. PMID:26833089

  12. Natural allelic variations of xenobiotic-metabolizing enzymes affect sexual dimorphism in Oryzias latipes.

    Science.gov (United States)

    Katsumura, Takafumi; Oda, Shoji; Nakagome, Shigeki; Hanihara, Tsunehiko; Kataoka, Hiroshi; Mitani, Hiroshi; Kawamura, Shoji; Oota, Hiroki

    2014-12-22

    Sexual dimorphisms, which are phenotypic differences between males and females, are driven by sexual selection. Interestingly, sexually selected traits show geographical variations within species despite strong directional selective pressures. This paradox has eluded many evolutionary biologists for some time, and several models have been proposed (e.g. 'indicator model' and 'trade-off model'). However, disentangling which of these theories explains empirical patterns remains difficult, because genetic polymorphisms that cause variation in sexual differences are still unknown. In this study, we show that polymorphisms in cytochrome P450 (CYP) 1B1, which encodes a xenobiotic-metabolizing enzyme, are associated with geographical differences in sexual dimorphism in the anal fin morphology of medaka fish (Oryzias latipes). Biochemical assays and genetic cross experiments show that high- and low-activity CYP1B1 alleles enhanced and declined sex differences in anal fin shapes, respectively. Behavioural and phylogenetic analyses suggest maintenance of the high-activity allele by sexual selection, whereas the low-activity allele possibly has experienced positive selection due to by-product effects of CYP1B1 in inferred ancestral populations. The present data can elucidate evolutionary mechanisms behind genetic variations in sexual dimorphism and indicate trade-off interactions between two distinct mechanisms acting on the two alleles with pleiotropic effects of xenobiotic-metabolizing enzymes. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

  13. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

    OpenAIRE

    Davis, Erica E.; Zhang, Qi; Liu, Qin; Diplas, Bill H.; Davey, Lisa M.; Hartley, Jane; Stoetzel, Corinne; Szymanska, Katarzyna; Ramaswami, Gokul; Logan, Clare V.; Muzny, Donna M.; Young, Alice C.; Wheeler, David A.; Cruz, Pedro; Morgan, Margaret

    2011-01-01

    Ciliary dysfunction leads to a broad range of overlapping phenotypes, termed collectively as ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifying alleles to clinically distinct disorders. Here we show that mutations in TTC21B/IFT139, encoding a retrograde intraflagellar transport (IFT) protein, cause both isolated nephronophthisis (NPHP) and syndromic Jeune Asphyxiating Thoracic Dystrophy (JATD). Moreover, although systematic medical ...

  14. Allelic Variation, Aneuploidy, and Nongenetic Mechanisms Suppress a Monogenic Trait in Yeast

    OpenAIRE

    Sirr, Amy; Cromie, Gareth A.; Jeffery, Eric W.; Gilbert, Teresa L.; Ludlow, Catherine L.; Scott, Adrian C.; Dudley, Aim?e M.

    2014-01-01

    Clinically relevant features of monogenic diseases, including severity of symptoms and age of onset, can vary widely in response to environmental differences as well as to the presence of genetic modifiers affecting the trait?s penetrance and expressivity. While a better understanding of modifier loci could lead to treatments for Mendelian diseases, the rarity of individuals harboring both a disease-causing allele and a modifying genotype hinders their study in human populations. We examined ...

  15. When Action-Inaction Framing Leads to Higher Escalation of Commitment: A New Inaction-Effect Perspective on the Sunk-Cost Fallacy.

    Science.gov (United States)

    Feldman, Gilad; Wong, Kin Fai Ellick

    2018-04-01

    Escalation of commitment to a failing course of action occurs in the presence of (a) sunk costs, (b) negative feedback that things are deviating from expectations, and (c) a decision between escalation and de-escalation. Most of the literature to date has focused on sunk costs, yet we offer a new perspective on the classic escalation-of-commitment phenomenon by focusing on the impact of negative feedback. On the basis of the inaction-effect bias, we theorized that negative feedback results in the tendency to take action, regardless of what that action may be. In four experiments, we demonstrated that people facing escalation-decision situations were indeed action oriented and that framing escalation as action and de-escalation as inaction resulted in a stronger tendency to escalate than framing de-escalation as action and escalation as inaction (mini-meta-analysis effect d = 0.37, 95% confidence interval = [0.21, 0.53]).

  16. Assigning breed origin to alleles in crossbred animals.

    Science.gov (United States)

    Vandenplas, Jérémie; Calus, Mario P L; Sevillano, Claudia A; Windig, Jack J; Bastiaansen, John W M

    2016-08-22

    For some species, animal production systems are based on the use of crossbreeding to take advantage of the increased performance of crossbred compared to purebred animals. Effects of single nucleotide polymorphisms (SNPs) may differ between purebred and crossbred animals for several reasons: (1) differences in linkage disequilibrium between SNP alleles and a quantitative trait locus; (2) differences in genetic backgrounds (e.g., dominance and epistatic interactions); and (3) differences in environmental conditions, which result in genotype-by-environment interactions. Thus, SNP effects may be breed-specific, which has led to the development of genomic evaluations for crossbred performance that take such effects into account. However, to estimate breed-specific effects, it is necessary to know breed origin of alleles in crossbred animals. Therefore, our aim was to develop an approach for assigning breed origin to alleles of crossbred animals (termed BOA) without information on pedigree and to study its accuracy by considering various factors, including distance between breeds. The BOA approach consists of: (1) phasing genotypes of purebred and crossbred animals; (2) assigning breed origin to phased haplotypes; and (3) assigning breed origin to alleles of crossbred animals based on a library of assigned haplotypes, the breed composition of crossbred animals, and their SNP genotypes. The accuracy of allele assignments was determined for simulated datasets that include crosses between closely-related, distantly-related and unrelated breeds. Across these scenarios, the percentage of alleles of a crossbred animal that were correctly assigned to their breed origin was greater than 90 %, and increased with increasing distance between breeds, while the percentage of incorrectly assigned alleles was always less than 2 %. For the remaining alleles, i.e. 0 to 10 % of all alleles of a crossbred animal, breed origin could not be assigned. The BOA approach accurately assigns

  17. Steganography in inactive frames of VoIP streams encoded by source codec

    OpenAIRE

    Huang, Yongfeng; Tang, Shanyu; Yuan, Jian

    2011-01-01

    This paper describes a novel high capacity steganography algorithm for embedding data in the inactive frames of low bit rate audio streams encoded by G.723.1 source codec, which is used extensively in Voice over Internet Protocol (VoIP). This study reveals that, contrary to existing thoughts, the inactive frames of VoIP streams are more suitable for data embedding than the active frames of the streams, that is, steganography in the inactive audio frames attains a larger data embedding capacit...

  18. Natural host genetic resistance to lentiviral CNS disease: a neuroprotective MHC class I allele in SIV-infected macaques.

    Directory of Open Access Journals (Sweden)

    Joseph L Mankowski

    Full Text Available Human immunodeficiency virus (HIV infection frequently causes neurologic disease even with anti-retroviral treatment. Although associations between MHC class I alleles and acquired immunodeficiency syndrome (AIDS have been reported, the role MHC class I alleles play in restricting development of HIV-induced organ-specific diseases, including neurologic disease, has not been characterized. This study examined the relationship between expression of the MHC class I allele Mane-A*10 and development of lentiviral-induced central nervous system (CNS disease using a well-characterized simian immunodeficiency (SIV/pigtailed macaque model. The risk of developing CNS disease (SIV encephalitis was 2.5 times higher for animals that did not express the MHC class I allele Mane-A*10 (P = 0.002; RR = 2.5. Animals expressing the Mane-A*10 allele had significantly lower amounts of activated macrophages, SIV RNA, and neuronal dysfunction in the CNS than Mane-A*10 negative animals (P<0.001. Mane-A*10 positive animals with the highest CNS viral burdens contained SIV gag escape mutants at the Mane-A*10-restricted KP9 epitope in the CNS whereas wild type KP9 sequences dominated in the brain of Mane-A*10 negative animals with comparable CNS viral burdens. These concordant findings demonstrate that particular MHC class I alleles play major neuroprotective roles in lentiviral-induced CNS disease.

  19. Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.

    Science.gov (United States)

    Irshaid, Nidal M; Eicher, Nicole I; Hustinx, Hein; Poole, Joyce; Olsson, Martin L

    2002-02-01

    The Kidd (JK) blood group system is of importance in transfusion medicine. The Jk(null) phenotype is associated with absence of the urea transporter in erythrocytes and moderately reduced ability to concentrate urine. We and others recently reported different molecular alterations in the silenced Jkb-like alleles of Polynesians and Finns, populations with higher Jk(null) frequencies. Here we report novel molecular bases of this phenotype in Caucasians. Blood samples from a Swiss and an English family were investigated by serological methods, urea haemolysis test and JK genotyping. Genomic DNA and JK mRNA were sequenced. Genotyping showed homozygosity for Jka-like alleles. The Swiss Jk(null) alleles deviated from wild-type Jka sequence by a nonsense mutation in exon 7 causing an immediate stop codon (Tyr194stop). The English Jk(null) alleles revealed a genomic 1.6 kilobase pair deletion including exons 4 and 5, the former of which includes the translation start codon. Multiple mRNA splicing variants were detected in reticulocytes but exons 3-5 were absent in all transcripts analysed. Screening for these alleles was negative in random donors. Two novel molecular alterations at the JK locus were defined and a multiplex polymerase chain reaction method for detection of the five known silent Jk alleles was developed to complement JK genotyping in clinical transfusion medicine.

  20. A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence.

    Science.gov (United States)

    Grucza, Richard A; Wang, Jen C; Stitzel, Jerry A; Hinrichs, Anthony L; Saccone, Scott F; Saccone, Nancy L; Bucholz, Kathleen K; Cloninger, C Robert; Neuman, Rosalind J; Budde, John P; Fox, Louis; Bertelsen, Sarah; Kramer, John; Hesselbrock, Victor; Tischfield, Jay; Nurnberger, John I; Almasy, Laura; Porjesz, Bernice; Kuperman, Samuel; Schuckit, Marc A; Edenberg, Howard J; Rice, John P; Goate, Alison M; Bierut, Laura J

    2008-12-01

    A nonsynonymous coding polymorphism, rs16969968, of the CHRNA5 gene that encodes the alpha-5 subunit of the nicotinic acetylcholine receptor (nAChR) has been found to be associated with nicotine dependence. The goal of this study was to examine the association of this variant with cocaine dependence. Genetic association analysis was performed in two independent samples of unrelated case and control subjects: 1) 504 European Americans participating in the Family Study on Cocaine Dependence (FSCD) and 2) 814 European Americans participating in the Collaborative Study on the Genetics of Alcoholism (COGA). In the FSCD, there was a significant association between the CHRNA5 variant and cocaine dependence (odds ratio = .67 per allele, p = .0045, assuming an additive genetic model), but in the reverse direction compared with that previously observed for nicotine dependence. In multivariate analyses that controlled for the effects of nicotine dependence, both the protective effect for cocaine dependence and the previously documented risk effect for nicotine dependence were statistically significant. The protective effect for cocaine dependence was replicated in the COGA sample. In COGA, effect sizes for habitual smoking, a proxy phenotype for nicotine dependence, were consistent with those observed in FSCD. The minor (A) allele of rs16969968, relative to the major G allele, appears to be both a risk factor for nicotine dependence and a protective factor for cocaine dependence. The biological plausibility of such a bidirectional association stems from the involvement of nAChRs with both excitatory and inhibitory modulation of dopamine-mediated reward pathways.

  1. Allele-specific expression at the androgen receptor alpha gene in a hybrid unisexual fish, the Amazon molly (Poecilia formosa.

    Directory of Open Access Journals (Sweden)

    Fangjun Zhu

    Full Text Available The all-female Amazon molly (Poecilia formosa is the result of a hybridization of the Atlantic molly (P. mexicana and the sailfin molly (P. latipinna approximately 120,000 years ago. As a gynogenetic species, P. formosa needs to copulate with heterospecific males including males from one of its bisexual ancestral species. However, the sperm only triggers embryogenesis of the diploid eggs. The genetic information of the sperm donor typically will not contribute to the next generation of P. formosa. Hence, P. formosa possesses generally one allele from each of its ancestral species at any genetic locus. This raises the question whether both ancestral alleles are equally expressed in P. formosa. Allele-specific expression (ASE has been previously assessed in various organisms, e.g., human and fish, and ASE was found to be important in the context of phenotypic variability and disease. In this study, we utilized Real-Time PCR techniques to estimate ASE of the androgen receptor alpha (arα gene in several distinct tissues of Amazon mollies. We found an allelic bias favoring the maternal ancestor (P. mexicana allele in ovarian tissue. This allelic bias was not observed in the gill or the brain tissue. Sequencing of the promoter regions of both alleles revealed an association between an Indel in a known CpG island and differential expression. Future studies may reveal whether our observed cis-regulatory divergence is caused by an ovary-specific trans-regulatory element, preferentially activating the allele of the maternal ancestor.

  2. Ethical guideposts for allelic variation databases.

    Science.gov (United States)

    Knoppers, B M; Laberge, C M

    2000-01-01

    Basically, a mutation database (MDB) is a repository where allelic variations are described and assigned within a specific gene locus. The purposes of an MDB may vary greatly and have different content and structure. The curator of an electronic and computer-based MDB will provide expert feedback (clinical and research). This requires ethical guideposts. Going to direct on-line public access for the content of an MDB or to interactive communication also raises other considerations. Currently, HUGO's MDI (Mutation Database Initiative) is the only integrated effort supporting and guiding the coordinated deployment of MDBs devoted to genetic diversity. Thus, HUGO's ethical "Statements" are applicable. Among the ethical principles, the obligation of preserving the confidentiality of information transferred by a collaborator to the curator is particularly important. Thus, anonymization of such data prior to transmission is essential. The 1997 Universal Declaration on the Human Genome and Human Rights of UNESCO addresses the participation of vulnerable persons. Researchers in charge of MDBs should ensure that information received on the testing of children or incompetent adults is subject to ethical review and approval in the country of origin. Caution should be taken against the involuntary consequences of public disclosure of results without complete explanation. Clear and enforceable regulations must be developed to protect the public against misuse of genetic databanks. Interaction with a databank could be seen as creating a "virtual" physician-patient relationship. However, interactive public MDBs should not give medical advice. We have identified new social ethical principles to govern different levels of complexity of genetic information. They are: reciprocity, mutuality, solidarity, and universality. Finally, precaution and prudence at this early stage of the MDI may not only avoid ethically inextricable conundrums but also provide for the respect for the rights

  3. Small molecule stabilization of the KSR inactive state antagonizes oncogenic Ras signalling.

    Science.gov (United States)

    Dhawan, Neil S; Scopton, Alex P; Dar, Arvin C

    2016-09-01

    Deregulation of the Ras-mitogen activated protein kinase (MAPK) pathway is an early event in many different cancers and a key driver of resistance to targeted therapies. Sustained signalling through this pathway is caused most often by mutations in K-Ras, which biochemically favours the stabilization of active RAF signalling complexes. Kinase suppressor of Ras (KSR) is a MAPK scaffold that is subject to allosteric regulation through dimerization with RAF. Direct targeting of KSR could have important therapeutic implications for cancer; however, testing this hypothesis has been difficult owing to a lack of small-molecule antagonists of KSR function. Guided by KSR mutations that selectively suppress oncogenic, but not wild-type, Ras signalling, we developed a class of compounds that stabilize a previously unrecognized inactive state of KSR. These compounds, exemplified by APS-2-79, modulate KSR-dependent MAPK signalling by antagonizing RAF heterodimerization as well as the conformational changes required for phosphorylation and activation of KSR-bound MEK (mitogen-activated protein kinase kinase). Furthermore, APS-2-79 increased the potency of several MEK inhibitors specifically within Ras-mutant cell lines by antagonizing release of negative feedback signalling, demonstrating the potential of targeting KSR to improve the efficacy of current MAPK inhibitors. These results reveal conformational switching in KSR as a druggable regulator of oncogenic Ras, and further suggest co-targeting of enzymatic and scaffolding activities within Ras-MAPK signalling complexes as a therapeutic strategy for overcoming Ras-driven cancers.

  4. Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

    Science.gov (United States)

    Parenti, Ilaria; Rovina, Davide; Masciadri, Maura; Cereda, Anna; Azzollini, Jacopo; Picinelli, Chiara; Limongelli, Giuseppe; Finelli, Palma; Selicorni, Angelo; Russo, Silvia; Gervasini, Cristina; Larizza, Lidia

    2014-07-01

    Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, limb anomalies, and growth and cognitive deficits. Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of clinically diagnosed CdLS cases. The SMC1A gene (Xp11.22), responsible for 5% of CdLS cases, partially escapes X chromosome inactivation in humans and the allele on the inactive X chromosome is variably expressed. In this study, we evaluated overall and allele-specific SMC1A expression. Real-time PCR analysis conducted on 17 controls showed that SMC1A expression in females is 50% higher than in males. Immunoblotting experiments confirmed a 44% higher protein level in healthy females than in males, and showed no significant differences in SMC1A protein levels between controls and patients. Pyrosequencing was used to assess the reciprocal level of allelic expression in six female carriers of different SMC1A mutations and 15 controls who were heterozygous at a polymorphic transcribed SMC1A locus. The two alleles were expressed at a 1:1 ratio in the control group and at a 2:1 ratio in favor of the wild type allele in the test group. Since a dominant negative effect is considered the pathogenic mechanism in SMC1A-defective female patients, the level of allelic preferential expression might be one of the factors contributing to the wide phenotypic variability observed in these patients. An extension of this study to a larger cohort containing mild to borderline cases could enhance our understanding of the clinical spectrum of SMC1A-linked CdLS.

  5. Identification of hemostatic genes expressed in human and rat leg muscles and a novel gene (LPP1/PAP2A suppressed during prolonged physical inactivity (sitting

    Directory of Open Access Journals (Sweden)

    Zderic Theodore W

    2012-10-01

    Full Text Available Abstract Background Partly because of functional genomics, there has been a major paradigm shift from solely thinking of skeletal muscle as contractile machinery to an understanding that it can have roles in paracrine and endocrine functions. Physical inactivity is an established risk factor for some blood clotting disorders. The effects of inactivity during sitting are most alarming when a person develops the enigmatic condition in the legs called deep venous thrombosis (DVT or “coach syndrome,” caused in part by muscular inactivity. The goal of this study was to determine if skeletal muscle expresses genes with roles in hemostasis and if their expression level was responsive to muscular inactivity such as occurs in prolonged sitting. Methods Microarray analyses were performed on skeletal muscle samples from rats and humans to identify genes associated with hemostatic function that were significantly expressed above background based on multiple probe sets with perfect and mismatch sequences. Furthermore, we determined if any of these genes were responsive to models of physical inactivity. Multiple criteria were used to determine differential expression including significant expression above background, fold change, and non-parametric statistical tests. Results These studies demonstrate skeletal muscle tissue expresses at least 17 genes involved in hemostasis. These include the fibrinolytic factors tetranectin, annexin A2, and tPA; the anti-coagulant factors TFPI, protein C receptor, PAF acetylhydrolase; coagulation factors, and genes necessary for the posttranslational modification of these coagulation factors such as vitamin K epoxide reductase. Of special interest, lipid phosphate phosphatase-1 (LPP1/PAP2A, a key gene for degrading prothrombotic and proinflammatory lysophospholipids, was suppressed locally in muscle tissue within hours after sitting in humans; this was also observed after acute and chronic physical inactivity conditions

  6. Obesity, physical inactivity, and colonic diverticular disease requiring hospitalization in women: a prospective cohort study.

    Science.gov (United States)

    Hjern, Fredrik; Wolk, Alicja; Håkansson, Niclas

    2012-02-01

    Lifestyle factors other than dietary fiber intake and risk for colonic diverticular disease have only been examined in few studies. The objective of this study was to investigate the association between obesity and physical inactivity and diverticular disease in a population-based cohort of women. This was a prospective population-based cohort study. In all, 36,592 women, born 1914-1948, in the Swedish Mammography Cohort were followed 1997-2009. Body mass index (BMI; kg/m(2)), physical activity, diet, smoking, and other lifestyle factors were collected at baseline through questionnaires. Cases of diverticular disease were identified from the Swedish Patient and Death Registers. Relative risks (RRs) of diverticular disease requiring hospitalization (or being the cause of death) according to BMI and physical activity were estimated using Cox proportional hazards models. The multivariable models were adjusted for age; intake of dietary fiber; diabetes; hypertension; use of acetylsalicylate acid, non-steroid anti-inflammatory drug, or steroid medication; alcohol consumption; smoking; and educational level. During 12 years, 626 cases of incident diverticular disease requiring hospitalization were found. Two women were registered in the National Death Register only. In multivariable analysis, women with BMI 25-29.99 had 29% increased risk (RR=1.29; 95% confidence interval (CI): 1.08, 1.54) and obese women (BMI≥30) had 33% (1.33; 95% CI: 1.03-1.72) increased risk of diverticular disease compared to women with BMI 20-24.99. Exercise ≤30 min/day increased the risk for disease with 42% (1.42; 95% CI: 1.18-1.69) compared with exercise >30 min/day in multivariable analysis. Ninety-eight subjects were hospitalized due to complications; perforation or abscess. Women with BMI≥30 had a twofold (RR=2.00; 95% CI: 1.08-3.73; P=0.028) increased risk for complicated disease. Overweight, obesity, and physical inactivity among women increase diverticular disease requiring

  7. Increasing and decreasing motor and cognitive output: a model of general action and inaction goals.

    Science.gov (United States)

    Albarracín, Dolores; Handley, Ian M; Noguchi, Kenji; McCulloch, Kathleen C; Li, Hong; Leeper, Joshua; Brown, Rick D; Earl, Allison; Hart, William P

    2008-09-01

    General action and inaction goals can influence the amount of motor or cognitive output irrespective of the type of behavior in question, with the same stimuli producing trivial and important motor and cognitive manifestations normally viewed as parts of different systems. A series of experiments examined the effects of instilling general action and inaction goals using word primes, such as "action" and "rest." The first 5 experiments showed that the same stimuli influenced motor output, such as doodling on a piece of paper and eating, as well as cognitive output, such as recall and problem solving. The last 2 experiments supported the prediction that these diverse effects can result from the instigation of general action and inaction goals. Specifically, these last 2 studies confirmed that participants were motivated to achieve active or inactive states and that attaining them decreased the effects of the primes on behavior.

  8. Using Two Disability Measures to Compare Physical Inactivity Among US Adults With Disabilities.

    Science.gov (United States)

    McGuire, Dana Olzenak; Watson, Kathleen B; Carroll, Dianna D; Courtney-Long, Elizabeth A; Carlson, Susan A

    2018-01-18

    Prevalence of health behaviors among adults with disabilities may vary by disability measure. We used data from the 2011-2015 National Health Interview Survey to estimate prevalence of physical inactivity by disability status using 2 measures of disability: Basic Actions Difficulty questions (BADQ) and a standard 6-question measure (6Q). Disability prevalence (BADQ, 31.1%; 6Q, 17.5%) and inactivity prevalence among adults with disability (BADQ, 42.9%; 6Q, 52.5%) and without disability (BADQ, 24.3%; 6Q, 26.2%) varied by measure; however, both measures highlight inactivity disparities for adults with disability. Disability measures influence physical inactivity estimates and are important for guiding surveillance and health promotion activities for adults with disabilities.

  9. 38 CFR 4.89 - Ratings for inactive nonpulmonary tuberculosis in effect on August 19, 1968.

    Science.gov (United States)

    2010-07-01

    ... Diseases, Immune Disorders and Nutritional Deficiencies § 4.89 Ratings for inactive nonpulmonary... the kidney and residuals of tuberculosis of the spine. Where there are existing pulmonary and...

  10. Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma.

    Directory of Open Access Journals (Sweden)

    Mary Anna Carbone

    Full Text Available The statistical power of genome-wide association (GWA studies to detect risk alleles for human diseases is limited by the unfavorable ratio of SNPs to study subjects. This multiple testing problem can be surmounted with very large population sizes when common alleles of large effects give rise to disease status. However, GWA approaches fall short when many rare alleles may give rise to a common disease, or when the number of subjects that can be recruited is limited. Here, we demonstrate that this multiple testing problem can be overcome by a comparative genomics approach in which an initial genome-wide screen in a genetically amenable model organism is used to identify human orthologues that may harbor risk alleles for adult-onset primary open angle glaucoma (POAG. Glaucoma is a major cause of blindness, which affects over 60 million people worldwide. Several genes have been associated with juvenile onset glaucoma, but genetic factors that predispose to adult onset primary open angle glaucoma (POAG remain largely unknown. Previous genome-wide analysis in a Drosophila ocular hypertension model identified transcripts with altered regulation and showed induction of the unfolded protein response (UPR upon overexpression of transgenic human glaucoma-associated myocilin (MYOC. We selected 16 orthologous genes with 62 polymorphic markers and identified in two independent human populations two genes of the UPR that harbor POAG risk alleles, BIRC6 and PDIA5. Thus, effectiveness of the UPR in response to accumulation of misfolded or aggregated proteins may contribute to the pathogenesis of POAG and provide targets for early therapeutic intervention.

  11. Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma.

    Science.gov (United States)

    Carbone, Mary Anna; Chen, Yuhong; Hughes, Guy A; Weinreb, Robert N; Zabriskie, Norman A; Zhang, Kang; Anholt, Robert R H

    2011-01-01

    The statistical power of genome-wide association (GWA) studies to detect risk alleles for human diseases is limited by the unfavorable ratio of SNPs to study subjects. This multiple testing problem can be surmounted with very large population sizes when common alleles of large effects give rise to disease status. However, GWA approaches fall short when many rare alleles may give rise to a common disease, or when the number of subjects that can be recruited is limited. Here, we demonstrate that this multiple testing problem can be overcome by a comparative genomics approach in which an initial genome-wide screen in a genetically amenable model organism is used to identify human orthologues that may harbor risk alleles for adult-onset primary open angle glaucoma (POAG). Glaucoma is a major cause of blindness, which affects over 60 million people worldwide. Several genes have been associated with juvenile onset glaucoma, but genetic factors that predispose to adult onset primary open angle glaucoma (POAG) remain largely unknown. Previous genome-wide analysis in a Drosophila ocular hypertension model identified transcripts with altered regulation and showed induction of the unfolded protein response (UPR) upon overexpression of transgenic human glaucoma-associated myocilin (MYOC). We selected 16 orthologous genes with 62 polymorphic markers and identified in two independent human populations two genes of the UPR that harbor POAG risk alleles, BIRC6 and PDIA5. Thus, effectiveness of the UPR in response to accumulation of misfolded or aggregated proteins may contribute to the pathogenesis of POAG and provide targets for early therapeutic intervention.

  12. High-resolution analysis of parent-of-origin allelic expression in the Arabidopsis Endosperm.

    Directory of Open Access Journals (Sweden)

    Philip Wolff

    2011-06-01

    Full Text Available Genomic imprinting is an epigenetic phenomenon leading to parent-of-origin specific differential expression of maternally and paternally inherited alleles. In plants, genomic imprinting has mainly been observed in the endosperm, an ephemeral triploid tissue derived after fertilization of the diploid central cell with a haploid sperm cell. In an effort to identify novel imprinted genes in Arabidopsis thaliana, we generated deep sequencing RNA profiles of F1 hybrid seeds derived after reciprocal crosses of Arabidopsis Col-0 and Bur-0 accessions. Using polymorphic sites to quantify allele-specific expression levels, we could identify more than 60 genes with potential parent-of-origin specific expression. By analyzing the distribution of DNA methylation and epigenetic marks established by Polycomb group (PcG proteins using publicly available datasets, we suggest that for maternally expressed genes (MEGs repression of the paternally inherited alleles largely depends on DNA methylation or PcG-mediated repression, whereas repression of the maternal alleles of paternally expressed genes (PEGs predominantly depends on PcG proteins. While maternal alleles of MEGs are also targeted by PcG proteins, such targeting does not cause complete repression. Candidate MEGs and PEGs are enriched for cis-proximal transposons, suggesting that transposons might be a driving force for the evolution of imprinted genes in Arabidopsis. In addition, we find that MEGs and PEGs are significantly faster evolving when compared to other genes in the genome. In contrast to the predominant location of mammalian imprinted genes in clusters, cluster formation was only detected for few MEGs and PEGs, suggesting that clustering is not a major requirement for imprinted gene regulation in Arabidopsis.

  13. Gene expression allelic imbalance in ovine brown adipose tissue impacts energy homeostasis.

    Directory of Open Access Journals (Sweden)

    Shila Ghazanfar

    Full Text Available Heritable trait variation within a population of organisms is largely governed by DNA variations that impact gene transcription and protein function. Identifying genetic variants that affect complex functional traits is a primary aim of population genetics studies, especially in the context of human disease and agricultural production traits. The identification of alleles directly altering mRNA expression and thereby biological function is challenging due to difficulty in isolating direct effects of cis-acting genetic variations from indirect trans-acting genetic effects. Allele specific gene expression or allelic imbalance in gene expression (AI occurring at heterozygous loci provides an opportunity to identify genes directly impacted by cis-acting genetic variants as indirect trans-acting effects equally impact the expression of both alleles. However, the identification of genes showing AI in the context of the expression of all genes remains a challenge due to a variety of technical and statistical issues. The current study focuses on the discovery of genes showing AI using single nucleotide polymorphisms as allelic reporters. By developing a computational and statistical process that addressed multiple analytical challenges, we ranked 5,809 genes for evidence of AI using RNA-Seq data derived from brown adipose tissue samples from a cohort of late gestation fetal lambs and then identified a conservative subgroup of 1,293 genes. Thus, AI was extensive, representing approximately 25% of the tested genes. Genes associated with AI were enriched for multiple Gene Ontology (GO terms relating to lipid metabolism, mitochondrial function and the extracellular matrix. These functions suggest that cis-acting genetic variations causing AI in the population are preferentially impacting genes involved in energy homeostasis and tissue remodelling. These functions may contribute to production traits likely to be under genetic selection in the population.

  14. Always look on both sides: phylogenetic information conveyed by simple sequence repeat allele sequences.

    Directory of Open Access Journals (Sweden)

    Stéphanie Barthe

    Full Text Available Simple sequence repeat (SSR markers are widely used tools for inferences about genetic diversity, phylogeography and spatial genetic structure. Their applications assume that variation among alleles is essentially caused by an expansion or contraction of the number of repeats and that, accessorily, mutations in the target sequences follow the stepwise mutation model (SMM. Generally speaking, PCR amplicon sizes are used as direct indicators of the number of SSR repeats composing an allele with the data analysis either ignoring the extent of allele size differences or assuming that there is a direct correlation between differences in amplicon size and evolutionary distance. However, without precisely knowing the kind and distribution of polymorphism within an allele (SSR and the associated flanking region (FR sequences, it is hard to say what kind of evolutionary message is conveyed by such a synthetic descriptor of polymorphism as DNA amplicon size. In this study, we sequenced several SSR alleles in multiple populations of three divergent tree genera and disentangled the types of polymorphisms contained in each portion of the DNA amplicon containing an SSR. The patterns of diversity provided by amplicon size variation, SSR variation itself, insertions/deletions (indels, and single nucleotide polymorphisms (SNPs observed in the FRs were compared. Amplicon size variation largely reflected SSR repeat number. The amount of variation was as large in FRs as in the SSR itself. The former contributed significantly to the phylogenetic information and sometimes was the main source of differentiation among individuals and populations contained by FR and SSR regions of SSR markers. The presence of mutations occurring at different rates within a marker's sequence offers the opportunity to analyse evolutionary events occurring on various timescales, but at the same time calls for caution in the interpretation of SSR marker data when the distribution of within

  15. Long-term sickness absence from work due to physical inactivity: A registry-based study.

    Science.gov (United States)

    Høgsbro, Cecilie; Davidsen, Michael; Sørensen, Jan

    2018-01-01

    The aim of this study was to explore the relationship between leisure-time physical inactivity and long-term sickness absence in a representative sample of individuals aged 16-54 years, within the labour market and in good health. It was hypothesised that physically inactive individuals have a higher risk of long-term sickness absence and longer duration of sickness absence. The study population was identified from the National Health and Morbidity Survey, 2010. Weekly data on long-term sickness absence were obtained from the National Register on Social Transfer Payments (the DREAM registry). The association of incidence and duration of long-term sickness absence with physical inactivity was explored using logistic and Poisson regression. Data were fitted to models with levels of physical activity, demographic, social and lifestyle characteristics as independent variables. A combined hurdle model was used to estimate the difference in mean number of absence weeks. Logistic regression showed that physically inactive individuals had a 27% higher incidence of long-term sickness absence compared with physically active individuals. The Poisson regression showed that long-term sickness absence was only slightly shorter (1 week less) for moderately active individuals compared with inactive individuals. The hurdle model estimated longer absence periods for inactive individuals (additional 2.5 weeks) in comparison with moderately and highly active individuals. The study showed that physically inactive individuals have a higher incidence of long-term absence and that physically inactive individuals have longer periods with sickness absence than moderately and highly active individuals. When adjustments for social and health behaviour were included, the estimated associations became statistically insignificant.

  16. Drop-out probabilities of IrisPlex SNP alleles

    DEFF Research Database (Denmark)

    Andersen, Jeppe Dyrberg; Tvedebrink, Torben; Mogensen, Helle Smidt

    2013-01-01

    In certain crime cases, information about a perpetrator's phenotype, including eye colour, may be a valuable tool if no DNA profile of any suspect or individual in the DNA database matches the DNA profile found at the crime scene. Often, the available DNA material is sparse and allelic drop......-out when the amount of DNA was greater than 125 pg for 29 cycles of PCR and greater than 62 pg for 30 cycles of PCR. With the use of a logistic regression model, we estimated the allele specific probability of drop-out in heterozygote systems based on the signal strength of the observed allele...

  17. [Physical inactivity and associated factors in adults, São Paulo, Brazil].

    Science.gov (United States)

    Zanchetta, Luane Margarete; Barros, Marilisa Berti de Azevedo; César, Chester Luiz Galvão; Carandina, Luana; Goldbaum, Moisés; Alves, Maria Cecília Goi Porto

    2010-09-01

    To analyze the prevalence of overall and leisure time physical inactivity and associated factors and types of exercises or sports modalities according to schooling in 2,050 adults from 18 to 59 years of age - state of São Paulo, Brazil. Population-based cross-sectional study with a stratified sample of clusters performed in multiple stages. Physical inactivity was determined using the short version of the International Physical Activity Questionnaire - IPAQ and by a question on the regular practice of leisure time physical activity. Data analysis took the sample design into account. Prevalence of physical inactivity during leisure was higher among women. Poisson multiple regression model in man indicated that overall sedentarism was lower among single and separated men, students and without car in the household. Leisure physical inactivity was greater among men over forty years, among those with less schooling and full-time students. Overall physical inactivity was more prevalent among woman with more schooling, with less qualified occupations and widows. Leisure physical inactivity decreased with age and schooling. Among modalities practiced for leisure, walking was more prevalent among women and football was more prevalent among men. Most modalities were directly associated with schooling; approximately 25% of the individuals with more than 12 years of schooling practiced walking. These results suggest that interventions and public policies to promote physical activity should consider differences in gender and socioeconomic status as well as the preferences for different modalities and the context in which the physical activity is practiced.

  18. Physical inactivity and sedentary behavior: Overlooked risk factors in autoimmune rheumatic diseases?

    Science.gov (United States)

    Pinto, Ana Jéssica; Roschel, Hamilton; de Sá Pinto, Ana Lúcia; Lima, Fernanda Rodrigues; Pereira, Rosa Maria Rodrigues; Silva, Clovis Artur; Bonfá, Eloisa; Gualano, Bruno

    2017-07-01

    This review aims to (1) summarize the estimates of physical inactivity and sedentary behavior in autoimmune rheumatic diseases; (2) describe the relationship between physical (in)activity levels and disease-related outcomes; (3) contextualize the estimates and impact of physical inactivity and sedentary behavior in autoimmune diseases compared to other rheumatic diseases and chronic conditions; and (4) discuss scientific perspectives around this theme and potential clinical interventions to attenuate these preventable risk factors. We compiled evidence to show that estimates of physical inactivity and sedentary behavior in autoimmune rheumatic diseases are generally comparable to other rheumatic diseases as well as to other chronic conditions (e.g., type 2 diabetes, cardiovascular diseases, and obesity), in which a lack of physical activity and excess of sedentary behavior are well-known predictors of morbimortality. In addition, we also showed evidence that both physical inactivity and sedentary behavior may be associated with poor health-related outcomes (e.g., worse disease symptoms and low functionality) in autoimmune rheumatic diseases. Thus, putting into practice interventions to make the patients "sit less and move more", particularly light-intensity activities and/or breaking-up sedentary time, is a simple and prudent therapeutic approach to minimize physical inactivity and sedentary behavior, which are overlooked yet modifiable risk factors in the field of autoimmune rheumatic diseases. Copyright © 2017 Elsevier B.V. All rights reserved.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    the possible biases. Results: We present AllelicImblance, a software program that is designed to detect, manage, and visualize allelic imbalances comprehensively. The purpose of this software is to allow users to pose genetic questions in any RNA sequencing experiment quickly, enhancing the general utility......Background: One aspect in which RNA sequencing is more valuable than microarray-based methods is the ability to examine the allelic imbalance of the expression of a gene. This process is often a complex task that entails quality control, alignment, and the counting of reads over heterozygous single...

  20. Experiments to Demonstrate Change in Allelic Frequency by ...

    Indian Academy of Sciences (India)

    /fulltext/reso/014/11/1110-1118. Keywords. Population genetics; genetic drift; allele frequency. Author Affiliations. N B Ramachandra1 M S Ranjini1. Unit on Evolution and Genetics DOS in Zoology Manasagangotri University of Mysore, India.

  1. Marker-assisted selection of high molecular weight glutenin alleles ...

    Indian Academy of Sciences (India)

    2012-08-08

    Triticum aestivum L.), while their allelic variation explains ... Glutamine-rich repetitive sequences that comprise the central part of the. HMW subunits are actually responsible for the elastic prop- erties due to extensive arrays of ...

  2. Risk of autoimmune diabetes in APECED: association with short alleles of the 5'insulin VNTR.

    Science.gov (United States)

    Paquette, J; Varin, D S E; Hamelin, C E; Hallgren, A; Kämpe, O; Carel, J-C; Perheentupa, J; Deal, C L

    2010-10-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease causing a wide spectrum of autoimmune dysfunction potentially including diabetes of an autoimmune etiology. We have previously described a pair of discordant APECED siblings and pointed to a possible role of 5'insulin variable number of tandem repeats (VNTR) locus IDDM2 in the appearance of diabetes within this disease. In vitro studies have previously suggested that class I VNTR alleles were associated with decreased fetal thymic insulin expression. We genotyped the 5'INS VNTR locus and several flanking 11p15.5 markers in 50 Finnish APECED subjects and explored the possible contribution of IDDM2 in the development of diabetes. The shorter 5'INS VNTR class I alleles (APECED subjects than in non-diabetic APECED subjects. Logistic regression analysis revealed that having 1 short (APECED.

  3. Characterization of a Novel MMS-Sensitive Allele of Schizosaccharomyces pombe mcm4+

    Science.gov (United States)

    Ranatunga, Nimna S.; Forsburg, Susan L.

    2016-01-01

    The minichromosome maintenance (MCM) complex is the conserved helicase motor of the eukaryotic replication fork. Mutations in the Mcm4 subunit are associated with replication stress and double strand breaks in multiple systems. In this work, we characterize a new temperature-sensitive allele of Schizosaccharomyces pombe mcm4+. Uniquely among known mcm4 alleles, this mutation causes sensitivity to the alkylation damaging agent methyl methanesulfonate (MMS). Even in the absence of treatment or temperature shift, mcm4-c106 cells show increased repair foci of RPA and Rad52, and require the damage checkpoint for viability, indicating genome stress. The mcm4-c106 mutant is synthetically lethal with mutations disrupting fork protection complex (FPC) proteins Swi1 and Swi3. Surprisingly, we found that the deletion of rif1+ suppressed the MMS-sensitive phenotype without affecting temperature sensitivity. Together, these data suggest that mcm4-c106 destabilizes replisome structure. PMID:27473316

  4. DRD4 dopamine receptor allelic diversity in various primate species

    Energy Technology Data Exchange (ETDEWEB)

    Adamson, M.; Higley, D. [NIAAA, Rockville, MD (United States); O`Brien, S. [NCI, Frederick, MD (United States)] [and others

    1994-09-01

    The DRD4 dopamine receptor is uniquely characterized by a 48 bp repeating segment within the coding region, located in exon III. Different DRD4 alleles are produced by the presence of additional 48 bp repeats, each of which adds 16 amino acids to the length of the 3rd intracytoplasmic loop of the receptor. The DRD4 receptor is therefore an intriguing candidate gene for behaviors which are influenced by dopamine function. In several human populations, DRD4 alleles with 2-8 and 10 repeats have previously been identified, and the 4 and 7 repeat alleles are the most abundant. We have determined DRD4 genotypes in the following nonhuman primate species: chimpanzee N=2, pygmy chimpanzee N=2, gorilla N=4, siamang N=2, Gelada baboon N=1, gibbon N=1, orangutan (Bornean and Sumatran) N=62, spider monkey N=4, owl monkey N=1, Colobus monkey N=1, Patas monkey N=1, ruffed lemur N=1, rhesus macaque N=8, and vervet monkey N=28. The degree of DRD4 polymorphism and which DRD4 alleles were present both showed considerable variation across primate species. In contrast to the human, rhesus macaque monkeys were monomorphic. The 4 and 7 repeat allels, highly abundant in the human, may not be present in certain other primates. For example, the four spider monkeys we studied showed the 7, 8 and 9 repeat length alleles and the only gibbon we analyzed was homozygous for the 9 repeat allele (thus far not observed in the human). Genotyping of other primate species and sequencing of the individual DRD4 repeat alleles in different species may help us determine the ancestral DRD4 repeat length and identify connections between DRD4 genotype and phenotype.

  5. SSR allelic variation in almond (Prunus dulcis Mill.).

    Science.gov (United States)

    Xie, Hua; Sui, Yi; Chang, Feng-Qi; Xu, Yong; Ma, Rong-Cai

    2006-01-01

    Sixteen SSR markers including eight EST-SSR and eight genomic SSRs were used for genetic diversity analysis of 23 Chinese and 15 international almond cultivars. EST- and genomic SSR markers previously reported in species of Prunus, mainly peach, proved to be useful for almond genetic analysis. DNA sequences of 117 alleles of six of the 16 SSR loci were analysed to reveal sequence variation among the 38 almond accessions. For the four SSR loci with AG/CT repeats, no insertions or deletions were observed in the flanking regions of the 98 alleles sequenced. Allelic size variation of these loci resulted exclusively from differences in the structures of repeat motifs, which involved interruptions or occurrences of new motif repeats in addition to varying number of AG/CT repeats. Some alleles had a high number of uninterrupted repeat motifs, indicating that SSR mutational patterns differ among alleles at a given SSR locus within the almond species. Allelic homoplasy was observed in the SSR loci because of base substitutions, interruptions or compound repeat motifs. Substitutions in the repeat regions were found at two SSR loci, suggesting that point mutations operate on SSRs and hinder the further SSR expansion by introducing repeat interruptions to stabilize SSR loci. Furthermore, it was shown that some potential point mutations in the flanking regions are linked with new SSR repeat motif variation in almond and peach.

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

    Science.gov (United States)

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

    1996-01-01

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

  7. Purification and Concentration of PCR Products Leads to Increased Signal intensities with Fewer Allelic Drop-Outs and Artifacts

    DEFF Research Database (Denmark)

    Maria Irlund Pedersen, Line; Stangegaard, Michael; Mogensen, Helle Smidt

    2011-01-01

    and the quality of the DNA profiles without re-amplification of the sample. We have validated and implemented an automated method to purify and 2-fold concentrate PCR products resulting in allelic peaks with higher intensity (a median height across all loci from 130 to 404 RFU), fewer allelic dropouts......Capillary electrophoresis of amplified DNA isolated from trace evidence samples occasionally results in inadequate STR-profiles due to artifacts caused by e.g. primers and dNTPs. Removal of artifacts by purification and subsequent concentration of the PCR products may increase the sensitivity...

  8. Effect of Early- and Adult-Life Socioeconomic Circumstances on Physical Inactivity.

    Science.gov (United States)

    Cheval, Boris; Sieber, Stefan; Guessous, Idris; Orsholits, Dan; Courvoisier, Delphine S; Kliegel, Matthias; Stringhini, Silvia; Swinnen, Stephan P; Burton-Jeangros, Claudine; Cullati, Stéphane; Boisgontier, Matthieu P

    2018-03-01

    This study aimed to investigate the associations between early- and adult-life socioeconomic circumstances and physical inactivity (level and evolution) in aging using large-scale longitudinal data. This study used the Survey of Health Ageing and Retirement in Europe, a 10-yr population-based cohort study with repeated measurements in five waves, every 2 yr between 2004 and 2013. Self-reported physical inactivity (waves 1, 2, 4, and 5), household income (waves 1, 2, 4, and 5), educational attainment (wave of the first measurement occasion), and early-life socioeconomic circumstance (wave 3) were collected in 22,846 individuals 50 to 95 yr of age. Risk of physical inactivity was increased for women with the most disadvantaged early-life socioeconomic circumstances (odds ratio [OR], 1.49; 95% confidence interval [CI], 1.20-1.86). With aging, the risk of physical inactivity increased for both sexes and was strongest for those with the most disadvantaged early-life socioeconomic circumstances (OR, 1.04 (95% CI, 1.02-1.06) for women; OR, 1.02 (95% CI, 1.00-1.05) for men), with the former effect being more robust than the latter one. The association between early-life socioeconomic circumstances and physical inactivity was mediated by adult-life socioeconomic circumstances, with education being the strongest mediator. Early-life socioeconomic circumstances predicted high levels of physical inactivity at older ages, but this effect was mediated by socioeconomic indicators in adult life. This finding has implications for public health policies, which should continue to promote education to reduce physical inactivity in people at older ages and to ensure optimal healthy aging trajectories, especially among women with disadvantaged early-life socioeconomic circumstances.

  9. Shared peptide binding of HLA Class I and II alleles associate with cutaneous nevirapine hypersensitivity and identify novel risk alleles

    DEFF Research Database (Denmark)

    Pavlos, Rebecca; McKinnon, Elizabeth J.; Ostrov, David A.

    2017-01-01

    specificities and binding pocket structure. We demonstrate that primary predisposition to cutaneous NVP HSR, seen across ancestral groups, can be attributed to a cluster of HLA-C alleles sharing a common binding groove F pocket with HLA-C*04:01. An independent association with a group of class II alleles which......Genes of the human leukocyte antigen (HLA) system encode cell-surface proteins involved in regulation of immune responses, and the way drugs interact with the HLA peptide binding groove is important in the immunopathogenesis of T-cell mediated drug hypersensitivity syndromes. Nevirapine (NVP......), is an HIV-1 antiretroviral with treatment-limiting hypersensitivity reactions (HSRs) associated with multiple class I and II HLA alleles. Here we utilize a novel analytical approach to explore these multi-allelic associations by systematically examining HLA molecules for similarities in peptide binding...

  10. Association between suicide attempt and a tri-allelic functional polymorphism in serotonin transporter gene promoter in Chinese patients with schizophrenia.

    Science.gov (United States)

    Hung, Chi-Fa; Lung, For-Wey; Chen, Chien-Hsiun; O'Nions, Elizabeth; Hung, Tai-Hsin; Chong, Mian-Yoon; Wu, Ching-Kuan; Wen, Jung-Kwang; Lin, Pao-Yen

    2011-10-31

    Mounting evidence supports the association between a polymorphism in the serotonin transporter gene promoter region (5-HTTLPR) and suicidal behaviour. Recently, a novel variant of the 5-HTTLPR L allele was identified. The previously unknown L(G) allele produced similar levels of gene expression to the S allele and might have been misclassified as a "high-expression" allele in previous association studies. In this study, we aimed to compare the genotype distribution of the tri-allelic 5-HTTLPR polymorphism in 168 Chinese patients with schizophrenia, including 60 suicide attempters and 108 non-suicide attempters. In our analysis, which used the L(A) dominant model, it was found that the L(A) allele carriers were significantly more likely to have attempted suicide (p=0.035). Further analysis showed this association existed only in male patients (p=0.012). A similar association between the L(A) allele and violent suicide attempt was also found (p=0.028). In addition, logistic regression confirmed our findings that male L(A) allele carriers were at a higher risk of suicide, although the lack of a significant association in females may reflect insufficient power due to small sample size. However, no association was found when we examined the traditional bi-allelic 5-HTTLPR. These findings differ from those reported in Caucasian subjects, where no associations have been reported. Different genetic backgrounds may give rise to different allelic distribution, causing differential effects on the expression of endophenotypes of suicide behaviours. Although the potential influence of multiple comparisons might weaken our findings, our study provides preliminary evidence for a potentially gender-specific role of a "high-expression" 5-HTTLPR polymorphism in susceptibility to suicide in Chinese patients with schizophrenia. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  11. Positive selection of deleterious alleles through interaction with a sex-ratio suppressor gene in African Buffalo: a plausible new mechanism for a high frequency anomaly.

    Science.gov (United States)

    van Hooft, Pim; Greyling, Ben J; Getz, Wayne M; van Helden, Paul D; Zwaan, Bas J; Bastos, Armanda D S

    2014-01-01

    Although generally rare, deleterious alleles can become common through genetic drift, hitchhiking or reductions in selective constraints. Here we present a possible new mechanism that explains the attainment of high frequencies of deleterious alleles in the African buffalo (Syncerus caffer) population of Kruger National Park, through positive selection of these alleles that is ultimately driven by a sex-ratio suppressor. We have previously shown that one in four Kruger buffalo has a Y-chromosome profile that, despite being associated with low body condition, appears to impart a relative reproductive advantage, and which is stably maintained through a sex-ratio suppressor. Apparently, this sex-ratio suppressor prevents fertility reduction that generally accompanies sex-ratio distortion. We hypothesize that this body-condition-associated reproductive advantage increases the fitness of alleles that negatively affect male body condition, causing genome-wide positive selection of these alleles. To investigate this we genotyped 459 buffalo using 17 autosomal microsatellites. By correlating heterozygosity with body condition (heterozygosity-fitness correlations), we found that most microsatellites were associated with one of two gene types: one with elevated frequencies of deleterious alleles that have a negative effect on body condition, irrespective of sex; the other with elevated frequencies of sexually antagonistic alleles that are negative for male body condition but positive for female body condition. Positive selection and a direct association with a Y-chromosomal sex-ratio suppressor are indicated, respectively, by allele clines and by relatively high numbers of homozygous deleterious alleles among sex-ratio suppressor carriers. This study, which employs novel statistical techniques to analyse heterozygosity-fitness correlations, is the first to demonstrate the abundance of sexually-antagonistic genes in a natural mammal population. It also has important

  12. Positive selection of deleterious alleles through interaction with a sex-ratio suppressor gene in African Buffalo: a plausible new mechanism for a high frequency anomaly.

    Directory of Open Access Journals (Sweden)

    Pim van Hooft

    Full Text Available Although generally rare, deleterious alleles can become common through genetic drift, hitchhiking or reductions in selective constraints. Here we present a possible new mechanism that explains the attainment of high frequencies of deleterious alleles in the African buffalo (Syncerus caffer population of Kruger National Park, through positive selection of these alleles that is ultimately driven by a sex-ratio suppressor. We have previously shown that one in four Kruger buffalo has a Y-chromosome profile that, despite being associated with low body condition, appears to impart a relative reproductive advantage, and which is stably maintained through a sex-ratio suppressor. Apparently, this sex-ratio suppressor prevents fertility reduction that generally accompanies sex-ratio distortion. We hypothesize that this body-condition-associated reproductive advantage increases the fitness of alleles that negatively affect male body condition, causing genome-wide positive selection of these alleles. To investigate this we genotyped 459 buffalo using 17 autosomal microsatellites. By correlating heterozygosity with body condition (heterozygosity-fitness correlations, we found that most microsatellites were associated with one of two gene types: one with elevated frequencies of deleterious alleles that have a negative effect on body condition, irrespective of sex; the other with elevated frequencies of sexually antagonistic alleles that are negative for male body condition but positive for female body condition. Positive selection and a direct association with a Y-chromosomal sex-ratio suppressor are indicated, respectively, by allele clines and by relatively high numbers of homozygous deleterious alleles among sex-ratio suppressor carriers. This study, which employs novel statistical techniques to analyse heterozygosity-fitness correlations, is the first to demonstrate the abundance of sexually-antagonistic genes in a natural mammal population. It also has

  13. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Guerra-Júnior Gil

    2010-06-01

    Full Text Available Abstract Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine Kinase RP, complement C4, steroid 21-hydroxylase CYP21 tenascin TNX, normally, in a duplicated cluster known as RCCX module. The CYP21 extra copy is a pseudogene (CYP21A1P. In Brazil, 30-kb deletion forming monomodular alleles that carry chimeric CYP21A1P/A2 genes corresponds to ~9% of disease-causing alleles. Such alleles are considered to result from unequal crossovers within the bimodular C4/CYP21 locus. Depending on the localization of recombination breakpoint, different alleles can be generated conferring the locus high degree of allelic variability. The purpose of the study was to investigate the variability of deleted alleles in patients with 21-hydroxylase deficiency. Methods We used different techniques to investigate the variability of 30-kb deletion alleles in patients with 21-hydroxylase deficiency. Alleles were first selected after Southern blotting. The composition of CYP21A1P/A2 chimeric genes was investigated by ASO-PCR and MLPA analyses followed by sequencing to refine the location of recombination breakpoints. Twenty patients carrying at least one allele with C4/CYP21 30-kb deletion were included in the study. Results An allele carrying a CYP21A1P/A2 chimeric gene was found unusually associated to a C4B/C4A Taq I 6.4-kb fragment, generally associated to C4B and CYP21A1P deletions. A novel haplotype bearing both p.P34L and p.H62L, novel and rare mutations, respectively, was identified in exon 1, however p.P30L, the most frequent pseudogene-derived mutation in this exon, was absent. Four unrelated patients showed this haplotype. Absence of p.P34L in CYP21A1P of normal controls indicated that it is not derived from pseudogene. In addition, the combination of different

  14. Haplotype analysis and a novel allele-sharing method refines a chromosome 4p locus linked to bipolar affective disorder.

    Science.gov (United States)

    Le Hellard, Stephanie; Lee, Andrew J; Underwood, Sarah; Thomson, Pippa A; Morris, Stewart W; Torrance, Helen S; Anderson, Susan M; Adams, Richard R; Navarro, Pau; Christoforou, Andrea; Houlihan, Lorna M; Detera-Wadleigh, Sevilla; Owen, Michael J; Asherson, Philip; Muir, Walter J; Blackwood, Douglas H R; Wray, Naomi R; Porteous, David J; Evans, Kathryn L

    2007-03-15

    Bipolar affective disorder (BPAD) and schizophrenia (SCZ) are common conditions. Their causes are unknown, but they include a substantial genetic component. Previously, we described significant linkage of BPAD to a chromosome 4p locus within a large pedigree (F22). Others subsequently have found evidence for linkage of BPAD and SCZ to this region. We constructed high-resolution haplotypes for four linked families, calculated logarithm of the odds (LOD) scores, and developed a novel method to assess the extent of allele sharing within genes between the families. We describe an increase in the F22 LOD score for this region. Definition and comparison of the linked haplotypes allowed us to prioritize two subregions of 3.8 and 4.4 Mb. Analysis of the extent of allele sharing within these subregions identified 200 kb that shows increased allele sharing between families. Linkage of BPAD to chromosome 4p has been strengthened. Haplotype analysis in the additional linked families refined the 20-Mb linkage region. Development of a novel allele-sharing method allowed us to bridge the gap between conventional linkage and association studies. Description of a 200-kb region of increased allele sharing prioritizes this region, which contains two functional candidate genes for BPAD, SLC2A9, and WDR1, for subsequent studies.

  15. Marital Status, the Economic Benefits of Marriage, and Days of Inactivity due to Poor Health

    Directory of Open Access Journals (Sweden)

    Jim P. Stimpson

    2012-01-01

    Full Text Available Purpose. This study explored whether the economic benefits of marriage mediate the association between marriage and health and if that relationship is conditional on the level of shared economic resources. Methods. Pooled, cross-sectional data from NHANES 2001–2006 were analyzed using multivariate zero-inflated negative binomial regression for the number of days of inactivity due to poor physical or mental health. Results. Persons that were divorced/separated reported the highest average number of days of inactivity (mean = 2.5 within a 30 day period, and married persons reported the lowest number of days of inactivity (mean = 1.4. Multivariate results indicated that widowed persons did not report significantly more days of inactivity than married persons. Income to poverty ratio reduced the size and eliminated statistical significance of the difference between divorced/separated and never married marital statuses compared to married persons. The interaction effect for marital status and income to poverty ratio was statistically significant suggesting that the relationship between marital status and inactivity is conditional on shared income. Conclusion. Marriage confers health protective benefits in part through pooled income relative to other marital statuses.

  16. Activity, inactivity, and screen time in relation to weight and fatness over adolescence in girls.

    Science.gov (United States)

    Must, Aviva; Bandini, Linda G; Tybor, David J; Phillips, Sarah M; Naumova, Elena N; Dietz, William H

    2007-07-01

    The impact of activity and inactivity on relative weight and fatness change are best evaluated longitudinally. We examined the longitudinal relationship of physical activity, inactivity, and screen time with relative weight status and percentage body fat (%BF) and explored how it differed by parental overweight status. Non-obese pre-menarcheal girls (173), 8 to 12 years old, were followed until 4 years post-menarche. %BF, BMI z-score, and time spent sleeping, sitting, standing, walking, and in vigorous activity were assessed annually. We developed a physical activity index to reflect time and intensity of activity. Inactivity was defined as the sum of time spent sleeping, sitting, and standing. Screen time was defined as time spent viewing television, videotapes, or playing video games. Parental overweight was defined as at least one parent with BMI>25. In separate linear mixed effects models, activity, inactivity, and screen time were unrelated to BMI z-score longitudinally, with and without accounting for parental overweight. After controlling for parental overweight, activity was inversely related (phistory of overweight represent a target population of high priority for interventions around physical activity and inactivity.

  17. The benefits of staying active in old age: physical activity counteracts the negative influence of PICALM, BIN1, and CLU risk alleles on episodic memory functioning.

    Science.gov (United States)

    Ferencz, Beata; Laukka, Erika J; Welmer, Anna-Karin; Kalpouzos, Grégoria; Angleman, Sara; Keller, Lina; Graff, Caroline; Lövdén, Martin; Bäckman, Lars

    2014-06-01

    PICALM, BIN1, CLU, and APOE are top candidate genes for Alzheimer's disease, and they influence episodic memory performance in old age. Physical activity, however, has been shown to protect against age-related decline and counteract genetic influences on cognition. The aims of this study were to assess whether (a) a genetic risk constellation of PICALM, BIN1, and CLU polymorphisms influences cognitive performance in old age; and (b) if physical activity moderates this effect. Data from the SNAC-K population-based study were used, including 2,480 individuals (age range = 60 to 100 years) free of dementia at baseline and at 3- to 6-year follow-ups. Tasks assessing episodic memory, perceptual speed, knowledge, and verbal fluency were administered. Physical activity was measured using self-reports. Individuals who had engaged in frequent health- or fitness-enhancing activities within the past year were compared with those who were inactive. Genetic risk scores were computed based on an integration of risk alleles for PICALM (rs3851179 G allele, rs541458 T allele), BIN1 (rs744373 G allele), and CLU (rs11136000 T allele). High genetic risk was associated with reduced episodic memory performance, controlling for age, education, vascular risk factors, chronic diseases, activities of daily living, and APOE gene status. Critically, physical activity attenuated the effects of genetic risk on episodic memory. Our findings suggest that participants with high genetic risk who maintain a physically active lifestyle show selective benefits in episodic memory performance. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  18. Scabies mite inactive serine proteases are potent inhibitors of the human complement lectin pathway.

    Directory of Open Access Journals (Sweden)

    Simone L Reynolds

    2014-05-01

    Full Text Available Scabies is an infectious skin disease caused by the mite Sarcoptes scabiei and has been classified as one of the six most prevalent epidermal parasitic skin diseases infecting populations living in poverty by the World Health Organisation. The role of the complement system, a pivotal component of human innate immunity, as an important defence against invading pathogens has been well documented and many parasites have an arsenal of anti-complement defences. We previously reported on a family of scabies mite proteolytically inactive serine protease paralogues (SMIPP-Ss thought to be implicated in host defence evasion. We have since shown that two family members, SMIPP-S D1 and I1 have the ability to bind the human complement components C1q, mannose binding lectin (MBL and properdin and are capable of inhibiting all three human complement pathways. This investigation focused on inhibition of the lectin pathway of complement activation as it is likely to be the primary pathway affecting scabies mites. Activation of the lectin pathway relies on the activation of MBL, and as SMIPP-S D1 and I1 have previously been shown to bind MBL, the nature of this interaction was examined using binding and mutagenesis studies. SMIPP-S D1 bound MBL in complex with MBL-associated serine proteases (MASPs and released the MASP-2 enzyme from the complex. SMIPP-S I1 was also able to bind MBL in complex with MASPs, but MASP-1 and MASP-2 remained in the complex. Despite these differences in mechanism, both molecules inhibited activation of complement components downstream of MBL. Mutagenesis studies revealed that both SMIPP-Ss used an alternative site of the molecule from the residual active site region to inhibit the lectin pathway. We propose that SMIPP-Ss are potent lectin pathway inhibitors and that this mechanism represents an important tool in the immune evasion repertoire of the parasitic mite and a potential target for therapeutics.

  19. Lab mice in the field: unorthodox daily activity and effects of a dysfunctional circadian clock allele.

    Science.gov (United States)

    Daan, Serge; Spoelstra, Kamiel; Albrecht, Urs; Schmutz, Isabelle; Daan, Moritz; Daan, Berte; Rienks, Froukje; Poletaeva, Inga; Dell'Omo, Giacomo; Vyssotski, Alexei; Lipp, Hans-Peter

    2011-04-01

    Daily patterns of animal behavior are potentially of vast functional importance. Fitness benefits have been identified in nature by the association between individual timing and survival or by the fate of individuals after experimental deletion of their circadian pacemaker. The recent advances in unraveling the molecular basis of circadian timing enable new approaches to natural selection on timing. The investigators report on the effect and fate of the mutant Per2(Brdm1) allele in 4 replicate populations of house mice in a seminatural outside environment over 2 years. This allele is known to compromise circadian organization and entrainment and to cause multiple physiological disturbances. Mice (N=250) bred from Per2(Brdm1) heterozygotes were implanted subcutaneously with transponders and released in approximately Mendelian ratios in four 400 m(2) pens. An electronic system stored the times of all visits to feeders of each individual. The study first demonstrates that mice are not explicitly nocturnal in this natural environment. Feeding activity was predominantly and sometimes exclusively diurnal and spread nearly equally over day and night under the protective snow cover in winter. The effect of Per2(Brdm1) on activity timing is negligible compared to seasonal changes in all genotypes. Second, the Per2(Brdm1) allele did not have persistent negative effects on fitness. In the first year, the allele gradually became less frequent by reducing survival. New cohorts captured had the same Per2(Brdm1) frequency as the survivors from previous cohorts, consistent with an absence of an effect on reproduction. In the second year, the allele recovered to about its initial frequency (0.54). These changes in selective advantage were primarily due to female mice, as females lived longer and the sex ratio dropped to about 25% males in the population. While it is unknown which selective advantage led to the recovery, the results caution against inferences from laboratory

  20. Genetic Variability and Distribution of Mating Type Alleles in Field Populations of Leptosphaeria maculans from France

    Science.gov (United States)

    Gout, Lilian; Eckert, Maria; Rouxel, Thierry; Balesdent, Marie-Hélène

    2006-01-01

    Leptosphaeria maculans is the most ubiquitous fungal pathogen of Brassica crops and causes the devastating stem canker disease of oilseed rape worldwide. We used minisatellite markers to determine the genetic structure of L. maculans in four field populations from France. Isolates were collected at three different spatial scales (leaf, 2-m2 field plot, and field) enabling the evaluation of spatial distribution of the mating type alleles and of genetic variability within and among field populations. Within each field population, no gametic disequilibrium between the minisatellite loci was detected and the mating type alleles were present at equal frequencies. Both sexual and asexual reproduction occur in the field, but the genetic structure of these populations is consistent with annual cycles of randomly mating sexual reproduction. All L. maculans field populations had a high level of gene diversity (H = 0.68 to 0.75) and genotypic diversity. Within each field population, the number of genotypes often was very close to the number of isolates. Analysis of molecular variance indicated that >99.5% of the total genetic variability was distributed at a small spatial scale, i.e., within 2-m2 field plots. Population differentiation among the four field populations was low (GST < 0.02), suggesting a high degree of gene exchange between these populations. The high gene flow evidenced here in French populations of L. maculans suggests a rapid countrywide diffusion of novel virulence alleles whenever novel resistance sources are used. PMID:16391041

  1. Parkinson’s disease and low frequency alleles found together throughout LRRK2

    Science.gov (United States)

    Paisán-Ruiz, Coro; Washecka, Nicole; Nath, Priti; Singleton, Andrew B.; Corder, Elizabeth H.

    2016-01-01

    Mutations within LRRK2, most notably p.G2019S, cause Parkinson’s disease (PD) in rare monogenic families, and sporadic occurrences in diverse populations. We investigated variation throughout LRRK2 (84 SNPs; genotype or diplotype found for 49 LD blocks) for 275 cases (European ancestry, onset at age 60 or older) and 275 neurologically healthy control subjects (NINDS Neurogenetics Repository). Three grade-of-membership groups, i.e. genetic risk sets, were identified that exactly matched many subjects (cases: 46, 4, 137; controls: 0, 178, 0), and distinguished 94% of the subjects (i.e. > 50% likeness to one set). Set I, affected, carried certain low frequency alleles located in multiple functional domains. Set II was unaffected. Set III, also affected, resembled II except for slightly elevated frequencies of minor alleles not defining set I. We conclude that certain low frequency alleles distributed throughout LRRK2 are a genetic background to a third of cases, defining a distinct subset. PMID:19489756

  2. Frequency of the GPR7 Tyr135Phe allelic variant in lean and obese subjects.

    Science.gov (United States)

    Pelosini, C; Maffei, M; Ceccarini, G; Marchi, M; Marsili, A; Galli, G; Scartabelli, G; Tamberi, A; Latrofa, F; Fierabracci, P; Vitti, P; Pinchera, A; Santini, F

    2013-10-01

    GPR7, the endogenous coupled receptor for neuropeptide B and neuropeptide W, is expressed in several regions of the central nervous system, which are involved in the regulation of feeding behavior. GPR7 affects the regulation of energy balance through a mechanism independent of leptin and melanocortin pathways. Aim of this study was to investigate whether GPR7 gene mutations can be detected in human subjects and, in that event, if they are differently distributed among lean and obese subjects. The coding region of GPR7 were sequenced in 150 obese patients and 100 normal-weight unrelated controls. Functional studies of the allelic variants were performed. One genetic GPR7 variant was found (Tyr135Phe - rs33977775) in obese subjects (13.3%) and lean control (25%). Functional studies did not reveal significant differences between the wild type and the Tyr135Phe allelic variants in their NPW-mediated capacity to inhibit forskolin-induced cAMP production. Screening of GPR7 gene mutations among lean and obese subjects revealed a Tyr135Phe allelic variant that was fairly common in the study population. As indicated by in vitro and in silico studies, this variant is unlikely to cause a functional derangement of the receptor.

  3. Type I plasminogen activator inhibitor 4G allele frequency is associated with chronic venous insufficiency.

    Science.gov (United States)

    Katrancioglu, N; Manduz, S; Ozen, F; Yilmaz, M Birhan; Karahan, O; Ozdemir, O; Berkan, O

    2010-01-01

    Chronic venous insufficiency (CVI) is a common disease associated with poor quality of life. Genetic polymorphisms causing coagulation abnormalities may account for some of the CVI pathogenesis. Type I plasminogen activator inhibitor (PAI-1) is responsible for fibrinolytic system regulation, and plasma levels of PAI-1 are strongly correlated with PAI-1 4G/5G gene polymorphism. The association between PAI-1 4G/5G gene polymorphism and CVI was investigated. In 34 consecutive patients with clinically overt CVI, the PAI-1 4G/4G polymorphism was detected in three cases (8.8%); the 4G/5G polymorphism was detected in 28 (82.4%). In 34 age- and sex-matched controls, the PAI-1 4G/4G polymorphism was detected in one case (2.9%) and the 4G/5G polymorphism was detected in 14 cases (41.2%). The PAI-1 4G allele was found significantly more frequently in CVI patients than in controls. The 4G allele was associated with a 3.25-fold increase in CVI risk. Thus, a relationship between CVI and the PAI-1 4G allele is apparent.

  4. Identification of Alleles of Puroindoline Genes and Their Effect on Wheat (Triticum aestivum L. Grain Texture

    Directory of Open Access Journals (Sweden)

    Klára Štiasna

    2016-01-01

    Full Text Available Grain hardness is one of the most important quality characteristics of wheat (Triticum aestivum L.. It is a significant property of wheat grains and relates to milling quality and end product quality. Grain hardness is caused by the presence of puroindoline genes (Pina and Pinb. A collection of 25 genotypes of wheat with unusual grain colour (blue aleurone, purple and white pericarp, yellow endosperm was studied by polymerase chain reaction (PCR for the diversity within Pina and Pinb (alleles: Pina-D1a, Pina-D1b, Pinb-D1a, Pinb- -D1b, Pinb-D1c and Pinb-D1d. The endosperm structure was determined by a non-destructive method using light transfl ectance meter and grain hardness by a texture analyser. Genotype Novosibirskaya 67 and isogenic ANK lines revealed hitherto unknown alleles at the locus for the annealing of primers of Pinb-D1. Allele Pinb-D1c was found to be absent from each genotype. The mealy endosperm ranged from 0 to 100 % and grain hardness from 15.10 to 26.87 N per sample.

  5. Testing the role of action and inaction anticipated regret on intentions and behaviour.

    Science.gov (United States)

    Sandberg, Tracy; Hutter, Russell; Richetin, Juliette; Conner, Mark

    2016-09-01

    Anticipated regret (AR) has been suggested as a useful addition to the theory of planned behaviour (TPB) that captures affective influences. However, previous research has generally (1) assessed the impact of AR in relation to one behaviour (action or inaction) when considering TPB variables in relation to the alternative behaviour, (2) not controlled for affective attitudes or past behaviour, and (3) examined only one or two behaviours. In two studies across several behaviours, the present research showed that even when controlling for affective attitudes, past behaviour, and other TPB variables towards action, action and inaction AR each added to the prediction of intentions across multiple behaviours. The two studies also showed that inaction regret was generally the stronger predictor, although action regret was important for some types of behaviour. Implications and issues for further research are discussed. © 2016 The British Psychological Society.

  6. Unemployment, Employment and Inactivity in Denmark: An Analysis of Event History Data

    DEFF Research Database (Denmark)

    Lauzadyté, Agné

    In this paper I estimate a discrete time hazard model for the exits from the different labour market states - unemployment, employment and inactivity (or OLF) - in the Danish labour market. I find that women and individuals over fifty are more likely to experience the long-term unemployment...... and inactivity. The less educated and unskilled workers are found to be another risk group to face the marginalisation from the labour market. Being previously employed reduces the risk of OLF, and increases the re-entry to employment probability, while living in the biggest Danish cities makes persons...... disadvantaged. These give the evidence that the "Flexicurity"model makes the weakest individuals disadvantaged in the Danish labour market. And finally, I find that those, who survived in a job one year, tend to remain employed, while persons, longer than one year inactive, face much higher risk...

  7. Allelic Dropout During Polymerase Chain Reaction due to G-Quadruplex Structures and DNA Methylation Is Widespread at Imprinted Human Loci

    Directory of Open Access Journals (Sweden)

    Aaron J. Stevens

    2017-03-01

    Full Text Available Loss of one allele during polymerase chain reaction (PCR amplification of DNA, known as allelic dropout, can be caused by a variety of mechanisms. Allelic dropout during PCR may have profound implications for molecular diagnostic and research procedures that depend on PCR and assume biallelic amplification has occurred. Complete allelic dropout due to the combined effects of cytosine methylation and G-quadruplex formation was previously described for a differentially methylated region of the human imprinted gene, MEST. We now demonstrate that this parent-of-origin specific allelic dropout can potentially occur at several other genomic regions that display genomic imprinting and have propensity for G-quadruplex formation, including AIM1, BLCAP, DNMT1, PLAGL1, KCNQ1, and GRB10. These findings demonstrate that systematic allelic dropout during PCR is a general phenomenon for regions of the genome where differential allelic methylation and G-quadruplex motifs coincide, and suggest that great care must be taken to ensure biallelic amplification is occurring in such situations.

  8. Deficiency in plasma protein synthesis caused by x-ray-induced lethal albino alleles in mouse

    International Nuclear Information System (INIS)

    Garland, R.C.; Satrustegui, J.; Gluecksohn-Waelsch, S.; Cori, C.F.

    1976-01-01

    Plasma protein synthesis was studied in mice bearing x-ray induced lethal mutations at the albino locus. Newborn albino mutants showed a decrease in each of the three principal plasma proteins, albumin, α-fetoprotein, and transferrin, when compared with colored littermate controls. Incorporation of [ 14 C] leucine into plasma proteins of the newborn albinos 30 min after injection was only 1 / 5 that of the controls, but incorporation into total liver protein was only slightly diminished. Incorporation of [ 14 C] leucine into an albumin fraction obtained by immunoprecipitation from livers incubated in vitro in an amino acid mixture was also strongly diminished. Thus, the liver of 18-day-old albino fetuses incorporated into this fraction 1 / 3 and that of newborn albinos 1 / 8 as much as the controls, but in both cases the incorporation into total liver protein was only 25 percent less than in the respective controls. These results indicate that the rather severe structural abnormalities observed in the mutants in the endoplasmic reticulum and the Golgi apparatus are not associated with a general deficiency of hepatic protein synthesis. Instead the data from this and previous work show that the progressive deficiency from fetal life to birth involves certain specific proteins represented by several perinatally developing enzymes and by plasma proteins. It is suggested that the mutational effects observed in these mice are due to deletions involving regulatory rather than structural genes at or near the albino locus

  9. A dominant, recombination-defective allele of Dmc1 causing male-specific sterility

    NARCIS (Netherlands)

    Bannister, Laura A.; Pezza, Roberto J.; Donaldson, Janet R.; de Rooij, Dirk G.; Schimenti, Kerry J.; Camerini-Otero, R. Daniel; Schimenti, John C.

    2007-01-01

    DMC1 is a meiosis-specific homolog of bacterial RecA and eukaryotic RAD51 that can catalyze homologous DNA strand invasion and D-loop formation in vitro. DMC1-deficient mice and yeast are sterile due to defective meiotic recombination and chromosome synapsis. The authors identified a male dominant

  10. Surveying Situation of Active and Inactive Elder Men Nutrition Health in Shiraz City

    Directory of Open Access Journals (Sweden)

    Abdolsaleh Zar

    2007-04-01

    Full Text Available Objectives: Toady with growth of different sciences, amount of dies decrease and life hope is going to increase, so world population tends to old ages. In old ages physiologic changes effect on nutrition needs, therefore nutrition cares have the most important role in their health improvement. The goal of this study is the surveying situation of active and inactive elder men nutrition health in shiraz city. Methods & Materials: This study has a descriptive method and for these purpose, we randomly selected 156 elder men upper than 60 years old from 4 main park's of shiraz as statistical sample. They divided into two elder groups by their physical activities' active elder' and 'inactive elder'. We use of investigate health situation questioner as our instrument in this study. Results: Findings show that 34.61% of 156 elder men (35 active and 19 inactive elder have a suitable nutrition situation and 37.81% of them (28 active and 31 inactive elder are in average danger of malnutrition and 27.56% (15 active and 28 inactive elder of them are in high danger of malnutrition. Conclusion: Results of this study show that generally old ages don't have a satisfy nutrition situation, although active old age have a better level rather than inactive ones. Therefore physical activities could have a positive role in old age healthy nutrition. It is necessary to plan suitable strategies for protecting and educating old age nutrition in order to improve and correct their diet. Also propagation of physical activities by organization and vast media is suggested.

  11. Changes in diagnosed diabetes, obesity, and physical inactivity prevalence in US counties, 2004-2012.

    Directory of Open Access Journals (Sweden)

    Linda S Geiss

    Full Text Available Recent studies suggest that prevalence of diagnosed diabetes in the United States reached a plateau or slowed around 2008, and that this change coincided with obesity plateaus and increases in physical activity. However, national estimates can obscure important variations in geographic subgroups. We examine whether a slowing or leveling off in diagnosed diabetes, obesity, and leisure time physical inactivity prevalence is also evident across the 3143 counties of the United States. We used publicly available county estimates of the age-adjusted prevalence of diagnosed diabetes, obesity, and leisure-time physical inactivity, which were generated by the Centers for Disease Control and Prevention (CDC. Using a Bayesian multilevel regression that included random effects by county and year and applied cubic splines to smooth these estimates over time, we estimated the average annual percentage point change (APPC from 2004 to 2008 and from 2008 to 2012 for diabetes, obesity, and physical inactivity prevalence in each county. Compared to 2004-2008, the median APPCs for diabetes, obesity, and physical inactivity were lower in 2008-2012 (diabetes APPC difference = 0.16, 95%CI 0.14, 0.18; obesity APPC difference = 0.65, 95%CI 0.59, 0.70; physical inactivity APPC difference = 0.43, 95%CI 0.37, 0.48. APPCs and APPC differences between time periods varied among counties and U.S. regions. Despite improvements, levels of these risk factors remained high with most counties merely slowing rather than reversing, which suggests that all counties would likely benefit from reductions in these risk factors. The diversity of trajectories in the prevalence of these risk factors across counties underscores the continued need to identify high risk areas and populations for preventive interventions. Awareness of how these factors are changing might assist local policy makers in targeting and tracking the impact of efforts to reduce diabetes, obesity and physical inactivity.

  12. Linking geology and microbiology: inactive pockmarks affect sediment microbial community structure.

    Science.gov (United States)

    Haverkamp, Thomas H A; Hammer, Øyvind; Jakobsen, Kjetill S

    2014-01-01

    Pockmarks are geological features that are found on the bottom of lakes and oceans all over the globe. Some are active, seeping oil or methane, while others are inactive. Active pockmarks are well studied since they harbor specialized microbial communities that proliferate on the seeping compounds. Such communities are not found in inactive pockmarks. Interestingly, inactive pockmarks are known to have different macrofaunal communities compared to the surrounding sediments. It is undetermined what the microbial composition of inactive pockmarks is and if it shows a similar pattern as the macrofauna. The Norwegian Oslofjord contains many inactive pockmarks and they are well suited to study the influence of these geological features on the microbial community in the sediment. Here we present a detailed analysis of the microbial communities found in three inactive pockmarks and two control samples at two core depth intervals. The communities were analyzed using high-throughput amplicon sequencing of the 16S rRNA V3 region. Microbial communities of surface pockmark sediments were indistinguishable from communities found in the surrounding seabed. In contrast, pockmark communities at 40 cm sediment depth had a significantly different community structure from normal sediments at the same depth. Statistical analysis of chemical variables indicated significant differences in the concentrations of total carbon and non-particulate organic carbon between 40 cm pockmarks and reference sample sediments. We discuss these results in comparison with the taxonomic classification of the OTUs identified in our samples. Our results indicate that microbial communities at the sediment surface are affected by the water column, while the deeper (40 cm) sediment communities are affected by local conditions within the sediment.

  13. Linking geology and microbiology: inactive pockmarks affect sediment microbial community structure.

    Directory of Open Access Journals (Sweden)

    Thomas H A Haverkamp

    Full Text Available Pockmarks are geological features that are found on the bottom of lakes and oceans all over the globe. Some are active, seeping oil or methane, while others are inactive. Active pockmarks are well studied since they harbor specialized microbial communities that proliferate on the seeping compounds. Such communities are not found in inactive pockmarks. Interestingly, inactive pockmarks are known to have different macrofaunal communities compared to the surrounding sediments. It is undetermined what the microbial composition of inactive pockmarks is and if it shows a similar pattern as the macrofauna. The Norwegian Oslofjord contains many inactive pockmarks and they are well suited to study the influence of these geological features on the microbial community in the sediment. Here we present a detailed analysis of the microbial communities found in three inactive pockmarks and two control samples at two core depth intervals. The communities were analyzed using high-throughput amplicon sequencing of the 16S rRNA V3 region. Microbial communities of surface pockmark sediments were indistinguishable from communities found in the surrounding seabed. In contrast, pockmark communities at 40 cm sediment depth had a significantly different community structure from normal sediments at the same depth. Statistical analysis of chemical variables indicated significant differences in the concentrations of total carbon and non-particulate organic carbon between 40 cm pockmarks and reference sample sediments. We discuss these results in comparison with the taxonomic classification of the OTUs identified in our samples. Our results indicate that microbial communities at the sediment surface are affected by the water column, while the deeper (40 cm sediment communities are affected by local conditions within the sediment.

  14. From physical inactivity to immobilization: Dissecting the role of oxidative stress in skeletal muscle insulin resistance and atrophy.

    Science.gov (United States)

    Pierre, Nicolas; Appriou, Zephyra; Gratas-Delamarche, Arlette; Derbré, Frédéric

    2016-09-01

    In the literature, the terms physical inactivity and immobilization are largely used as synonyms. The present review emphasizes the need to establish a clear distinction between these two situations. Physical inactivity is a behavior characterized by a lack of physical activity, whereas immobilization is a deprivation of movement for medical purpose. In agreement with these definitions, appropriate models exist to study either physical inactivity or immobilization, leading thereby to distinct conclusions. In this review, we examine the involvement of oxidative stress in skeletal muscle insulin resistance and atrophy induced by, respectively, physical inactivity and immobilization. A large body of evidence demonstrates that immobilization-induced atrophy depends on the chronic overproduction of reactive oxygen and nitrogen species (RONS). On the other hand, the involvement of RONS in physical inactivity-induced insulin resistance has not been investigated. This observation outlines the need to elucidate the mechanism by which physical inactivity promotes insulin resistance. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. An improved assay for the determination of Huntington`s disease allele size

    Energy Technology Data Exchange (ETDEWEB)

    Reeves, C.; Klinger, K.; Miller, G. [Intergrated Genetics, Framingham, MA (United States)

    1994-09-01

    The hallmark of Huntington`s disease (HD) is the expansion of a polymorphic (CAG)n repeat. Several methods have been published describing PCR amplification of this region. Most of these assays require a complex PCR reaction mixture to amplify this GC-rich region. A consistent problem with trinucleotide repeat PCR amplification is the presence of a number of {open_quotes}stutter bands{close_quotes} which may be caused by primer or amplicon slippage during amplification or insufficient polymerase processivity. Most assays for HD arbitrarily select a particular band for diagnostic purposes. Without a clear choice for band selection such an arbitrary selection may result in inconsistent intra- or inter-laboratory findings. We present an improved protocol for the amplification of the HD trinucleotide repeat region. This method simplifies the PCR reaction buffer and results in a set of easily identifiable bands from which to determine allele size. HD alleles were identified by selecting bands of clearly greater signal intensity. Stutter banding was much reduced thus permitting easy identification of the most relevant PCR product. A second set of primers internal to the CCG polymorphism was used in selected samples to confirm allele size. The mechanism of action of N,N,N trimethylglycine in the PCR reaction is not clear. It may be possible that the minimal isostabilizing effect of N,N,N trimethylglycine at 2.5 M is significant enough to affect primer specificity. The use of N,N,N trimethylglycine in the PCR reaction facilitated identification of HD alleles and may be appropriate for use in other assays of this type.

  16. Allelic combinations of promoter and exon 2 in DQB1 in dogs and wolves.

    Science.gov (United States)

    Berggren, Karin T; Seddon, Jennifer M

    2008-07-01

    Polymorphism of PBRs of the major histocompatibility complex (MHC) genes is well recognized, but the polymorphism also extends to proximal promoter regions. Examining DQB1 variability in dogs and wolves, we identified 7 promoter variants and 13 exon 2 alleles among 89 dogs, including a previously unknown DQB1 exon 2 allele, and 8 promoter variants and 9 exon 2 alleles among 85 wolves. As expected from previous studies and from a close chromosomal location, strong linkage disequilibrium was demonstrated in both wolves and dogs by having significantly fewer promoter/exon 2 combinations than expected from simulations of randomized data sets. Interestingly, we noticed weaker haplotypic associations in dogs than in wolves. Dogs had twice as many promoter/exon 2 combinations as wolves and an almost 2-fold difference in the number of exon 2 alleles per promoter variant. This difference was not caused by an admixture of breeds in our group of dogs because the high ratio of observed to expected number of haplotypes persisted within a single dog breed, the German Shepherd. Ewens-Watterson tests indicated that both the promoter and exon 2 are under the balancing selection, and both regions appear to be more recently derived in the dog than in the wolf. Hence, although reasons for the differences are unknown, they may relate to altered selection pressure on patterns of expression. Deviations from normal MHC expression patterns have been associated with autoimmune diseases, which occur frequently in several dog breeds. Further knowledge about these deviations may help us understand the source of such diseases.

  17. Higher frequency of septic shock in septic patients with the 47C allele (rs4880) of the SOD2 gene.

    Science.gov (United States)

    Paludo, Francis Jackson de Oliveira; Picanço, Juliane Bentes; Fallavena, Paulo Roberto Vargas; Fraga, Lucas da Rosa; Graebin, Pietra; Nóbrega, Otávio de Toledo; Dias, Fernando Suparregui; Alho, Clarice Sampaio

    2013-03-15

    To analyze the effect of the two different versions of the manganese superoxide dismutase gene (SOD2) on sepsis. The SOD2 gene presents the 47C>T single nucleotide polymorphism (SNP; ID: rs4880) which produces MnSOD with different activities. The -9Val MnSOD (47T allele) is less efficient than the -9Ala version (47C allele). During sepsis there are abundance of ROS, high SOD2 expression and excess of H(2)O(2) synthesis. High concentrations of H(2)O(2) could affect the sepsis scenario and/or the sepsis outcome. We determined the 47C>T single nucleotide polymorphism (SNP) frequencies in 529 critically ill patients with or without sepsis, facing outcome. To collect information on population frequencies, we obtained a pilot 47C>T genotypic and allelic frequencies in a random group of 139 healthy subjects. We compared the 47C allele carriers (47CC+47CT genotypes) with 47TT homozygotes and noticed a significant association between 47C allele carriers and septic shock in septic patients (P=0.025). With an adjusted binary multivariate logistic regression, incorporating 47C>T SNP and the main clinical predictors, we showed high SOFA scores [P<0.001, OR=9.107 (95% CI=5.319-15.592)] and 47C allele [P=0.011, OR=2.125 (95% CI=1.190-3.794)] were significantly associated with septic shock outcome. With this information we presented a hypothesis suggesting that this negative outcome from sepsis is possibly explained by effects on cellular stress caused by 47C allele. In our population there was a significant higher frequency of septic shock in septic patients with the 47C allele of the SOD2 gene. This higher 47C allele frequency in septic patients with negative outcome could be explained by effects of higher activity MnSOD on cellular stress during the sepsis. Copyright © 2012 Elsevier B.V. All rights reserved.

  18. New Method for Determination of Electrically Inactive Phosphorus in n-type Emitters

    OpenAIRE

    Steyer, Michael; Dastgheib-Shirazi, Amir; Hahn, Giso; Terheiden, Barbara

    2015-01-01

    The precise knowledge of the amount and the location in depth of inactive phosphorus in an n-type emitter is still a challenge. As a new approach, we determine the total amount of phosphorus (P dose) in the emitter stepwise in dependence of etching depth with the characterization tool ICP-OES. A comparison of the data with the electrically active P concentration profile measured by ECV allows to determine in which depths electrically inactive phosphorus is present. For a highly doped emitter,...

  19. Trends in social inequality in physical inactivity among Danish adolescents 1991–2014

    DEFF Research Database (Denmark)

    Johnsen, N F; Toftager, Mette; Melkevik, Ole

    2017-01-01

    -sectional studies of nationally representative samples of 11–15-year old adolescents. The available data consisted of weekly time (hours) spent on vigorous physical activity and parental occupation from 30,974 participants. In summary, 8.0% of the adolescents reported to be physically inactive, i.e. spend zero...... hours of vigorous leisure time physical activity per week. The proportion of physically inactive adolescents was 5.4% in high social class and 7.8% and 10.8%, respectively, in middle and low social class. The absolute social inequality measured as prevalence difference between low and high social class...

  20. Process and system for reducing the inactive salt concentration in waste solutions of nuclear power plants

    International Nuclear Information System (INIS)

    Balint, T.; Drozda, T.; Mozes, G.; Kristof, M.; Hanel, E.; Tilky, P.

    1987-01-01

    The method is based on a suitable combination of most modern separation measures as there are precipitation, filtration, ultra-filtration, reverse osmosis, ion exchange, evaporation and crystallization; in this method almost the total quantity of the components with radioactivity, except tritium, can be effectively separated from inactive salts. One part of the inactive salt (alkali nitrate) can be treated as industrial waste and the other part (boric acid) can be recycled. The method of the invention as well as the equipment used for its execution can considerably reduce the high costs of waste solution treatment in nuclear power stations. (orig./RB) [de

  1. Aerobic exercise and cold pressor test induce hypoalgesia in active and inactive men and women

    DEFF Research Database (Denmark)

    Vaegter, Henrik Bjarke; Handberg, Gitte; Jørgensen, Maria N.

    2015-01-01

    ). Conditioned pain modulation (CPM) was assessed by cold pressor testing. Exercise-induced hypoalgesia (EIH) was assessed after 15 minutes bicycling at a heart rate corresponding to 75% VO2max. A control session of 15 minutes quiet rest was also included. Pressure pain thresholds (PPTs) were recorded....... It was hypothesized that active subjects had more efficient pain inhibition compared with inactive subjects. DESIGN: A randomized, crossover study with 2 days of data collection. METHODS: Fifty-six (28 females) subjects participated in this study. Subjects were subgrouped into active (n = 30) and inactive (n = 26...

  2. Implication of HLA-DMA Alleles in Corsican IDDM

    Directory of Open Access Journals (Sweden)

    P. Cucchi-Mouillot

    1998-01-01

    Full Text Available The HLA-DM molecule catalyses the CLIP/antigen peptide exchange in the classical class II peptide-binding groove. As such, DM is an antigen presentation regulator and may be linked to autoimmune diseases. Using PCR derived methods, a relationship was revealed between DM gene polymorphism and IDDM, in a Corsican population. The DMA*0101 allele was observed to confer a significant predisposition to this autoimmune disease while the DMA*0102 allele protected significantly. Experiments examining polymorphism of the HLA-DRB1 gene established that these relationships are not a consequence of linkage disequilibrium with HLA-DRB1 alleles implicated in this pathology. The study of the DMA gene could therefore be an additional tool for early IDDM diagnosis in the Corsican population.

  3. Common breast cancer risk alleles and risk assessment

    DEFF Research Database (Denmark)

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

    2017-01-01

    mammography in Denmark, the average 5-year breast cancer risk was 1.5%, overall and 1.1%, 1.4%, 1.6%, 1.7%, 2.1%, for the 1(st) through 5(th) quintile, respectively. Based on age, nulliparity, familial history, and allele sum, 25% of women aged 50-69, and 94% of women aged 40-49, had absolute 5-year breast...... cancer risks ≤ 1.5%. Using polygenic risk score led to similar results. CONCLUSION: Common breast cancer risk alleles are associated with incidence and mortality of breast cancer in the general population, but not with other cancers. After including breast cancer allele sum in risk assessment, 25...

  4. Allele-sharing statistics using information on family history.

    Science.gov (United States)

    Callegaro, A; Meulenbelt, I; Kloppenburg, M; Slagboom, P E; Houwing-Duistermaat, J J

    2010-11-01

    When conducting genetic studies for complex traits, large samples are commonly required to detect new genetic factors. A possible strategy to decrease the sample size is to reduce heterogeneity using available information. In this paper we propose a new class of model-free linkage analysis statistics which takes into account the information given by the ungenotyped affected relatives (positive family history). This information is included into the scoring function of classical allele-sharing statistics. We studied pedigrees of affected sibling pairs with one ungenotyped affected relative. We show that, for rare allele common complex diseases, the proposed method increases the expected power to detect linkage. Allele-sharing methods were applied to the symptomatic osteoarthritis GARP study where taking into account the family-history increased considerably the evidence of linkage in the region of the DIO2 susceptibility locus. © 2010 The Authors Annals of Human Genetics © 2010 Blackwell Publishing Ltd/University College London.

  5. Reduced Height (Rht) Alleles Affect Wheat Grain Quality.

    Science.gov (United States)

    Casebow, Richard; Hadley, Caroline; Uppal, Rajneet; Addisu, Molla; Loddo, Stefano; Kowalski, Ania; Griffiths, Simon; Gooding, Mike

    2016-01-01

    The effects of dwarfing alleles (reduced height, Rht) in near isogenic lines on wheat grain quality are characterised in field experiments and related to effects on crop height, grain yield and GA-sensitivity. Alleles included those that conferred GA-insensitivity (Rht-B1b, Rht-B1c, Rht-D1b, Rht-D1c) as well as those that retained GA-sensitivity (rht(tall), Rht8, Rht8 + Ppd-D1a, Rht12). Full characterisation was facilitated by including factors with which the effects of Rht alleles are known to interact for grain yield (i.e. system, [conventional or organic]; tillage intensity [plough-based, minimum or zero]; nitrogen fertilizer level [0-450 kg N/ha]; and genetic backgrounds varying in height [cvs Maris Huntsman, Maris Widgeon, and Mercia]. Allele effects on mean grain weight and grain specific weight were positively associated with final crop height: dwarfing reduced these quality criteria irrespective of crop management or GA-sensitivity. In all but two experiments the effects of dwarfing alleles on grain nitrogen and sulphur concentrations were closely and negatively related to effects on grain yield, e.g. a quadratic relationship between grain yield and crop height manipulated by the GA-insensitive alleles was mirrored by quadratic relationships for nitrogen and sulphur concentrations: the highest yields and most dilute concentrations occurred around 80cm. In one of the two exceptional experiments the GA-insensitive Rht-B1b and Rht-B1c significantly (Pdirect pleiotropic effect of GA-insensitivity, rather than an effect consequential to yield and/or height.

  6. SPORT AS A STRATEGY FOR PREVENTING PHYSICAL INACTIVITY: WALKING FOOTBALL

    Directory of Open Access Journals (Sweden)

    Calogero Roaul Aiello

    2016-04-01

    Full Text Available In the senile population, regular physical activity and reduction of a sedentary lifestyle lead to a series of positive effects. Such as, increased independence in daily activities and personal care, higher self-esteem, a better quality of life, a higher life expectancy and a decrease in mortality. Moreover, physical, psychological, and cognitive functions can also improve. With regards to this notion, the Walking Football (WF activity was started in England; a sport designed for the needs population segment, who, due to overweight and other typical diseases of old age, has a limited mobility and can only play sports with lowmoderate cardiovascular effort. WF is a new sport mainly created for people over 50, i.e. the population diagnosed with chronic degenerative diseases, and the actual increase of obesity gradually cause to abstain from a regular physical activity. The game is played 7 vs. 7 and all players must only walk; running is considered a foul. To avoid sudden movements and reduce the risk of injury, the ball must be always kept on the ground, and slide tackles and an aggressive behavior are prohibited. This sport, a slow variation of football, is considered a low risk sport activity for the low incidence of traumatic events and can be practiced safely because the cardiovascular effort is minimum. WF comes directly from football, which is considered the most popular sport in the world. It is also associated with positive social and motivational factors that may facilitate compliance to the sport, which help maintain a physically active lifestyle. WF is still not widespread in Italy, and our hope is that it can become, in a short time, a reference for the sports designed for the elderly.

  7. Simultaneous inference of haplotypes and alleles at a causal gene

    Directory of Open Access Journals (Sweden)

    Fabrice eLarribe

    2015-10-01

    Full Text Available We present a new methodology which jointly infers haplotypes and the causal alleles at a gene influencing a given trait. Often in human genetic studies, the available data consists of genotypes (series of genetic markers along the chromosomes and a phenotype. However, for many genetic analyses, one needs haplotypes instead of genotypes. Our methodology is not only able to estimate haplotypes conditionally on the disease status, but is also able to infer the alleles at the unknown disease locus. Some applications of our methodology are in genetic mapping and in genetic counselling.

  8. Reduced Height (Rht Alleles Affect Wheat Grain Quality.

    Directory of Open Access Journals (Sweden)

    Richard Casebow

    Full Text Available The effects of dwarfing alleles (reduced height, Rht in near isogenic lines on wheat grain quality are characterised in field experiments and related to effects on crop height, grain yield and GA-sensitivity. Alleles included those that conferred GA-insensitivity (Rht-B1b, Rht-B1c, Rht-D1b, Rht-D1c as well as those that retained GA-sensitivity (rht(tall, Rht8, Rht8 + Ppd-D1a, Rht12. Full characterisation was facilitated by including factors with which the effects of Rht alleles are known to interact for grain yield (i.e. system, [conventional or organic]; tillage intensity [plough-based, minimum or zero]; nitrogen fertilizer level [0-450 kg N/ha]; and genetic backgrounds varying in height [cvs Maris Huntsman, Maris Widgeon, and Mercia]. Allele effects on mean grain weight and grain specific weight were positively associated with final crop height: dwarfing reduced these quality criteria irrespective of crop management or GA-sensitivity. In all but two experiments the effects of dwarfing alleles on grain nitrogen and sulphur concentrations were closely and negatively related to effects on grain yield, e.g. a quadratic relationship between grain yield and crop height manipulated by the GA-insensitive alleles was mirrored by quadratic relationships for nitrogen and sulphur concentrations: the highest yields and most dilute concentrations occurred around 80cm. In one of the two exceptional experiments the GA-insensitive Rht-B1b and Rht-B1c significantly (P<0.05 reduced grain nitrogen concentration in the absence of an effect on yield, and in the remaining experiment the GA-sensitive Rht8 significantly reduced both grain yield and grain nitrogen concentration simultaneously. When Rht alleles diluted grain nitrogen concentration, N:S ratios and SDS-sedimentation volumes were often improved. Hagberg falling number (HFN was negatively related to crop height but benefits from dwarfing were only seen for GA-insensitive alleles. For HFN, therefore, there

  9. Pedigree-Based Analysis in a Multiparental Population of Octoploid Strawberry Reveals QTL Alleles Conferring Resistance to Phytophthora cactorum

    Science.gov (United States)

    Mangandi, Jozer; Verma, Sujeet; Osorio, Luis; Peres, Natalia A.; van de Weg, Eric; Whitaker, Vance M.

    2017-01-01

    Understanding the genetic architecture of traits in breeding programs can be critical for making genetic progress. Important factors include the number of loci controlling a trait, allele frequencies at those loci, and allele effects in breeding germplasm. To this end, multiparental populations offer many advantages for quantitative trait locus (QTL) analyses compared to biparental populations. These include increased power for QTL detection, the ability to sample a larger number of segregating loci and alleles, and estimation of allele effects across diverse genetic backgrounds. Here, we investigate the genetic architecture of resistance to crown rot disease caused by Phytophthora cactorum in strawberry (Fragaria × ananassa), using connected full-sib families from a breeding population. Clonal replicates of > 1100 seedlings from 139 full-sib families arising from 61 parents were control-inoculated during two consecutive seasons. Subgenome-specific single nucleotide polymorphism (SNP) loci were mapped in allo-octoploid strawberry (2n = 8 × = 56), and FlexQTL software was utilized to perform a Bayesian, pedigree-based QTL analysis. A major locus on linkage group (LG) 7D, which we name FaRPc2, accounts for most of the genetic variation for resistance. Four predominant SNP haplotypes were detected in the FaRPc2 region, two of which are strongly associated with two different levels of resistance, suggesting the presence of multiple resistance alleles. The phenotypic effects of FaRPc2 alleles across trials and across numerous genetic backgrounds make this locus a highly desirable target for genetic improvement of resistance in cultivated strawberry. PMID:28592652

  10. Selection, trans-species polymorphism, and locus identification of major histocompatibility complex class IIβ alleles of New World ranid frogs

    Science.gov (United States)

    Kiemnec-Tyburczy, Karen M.; Richmond, Jonathan Q.; Savage, Anna E.; Zamudio, Kelly R.

    2010-01-01

    Genes encoded by the major histocompatibility complex (MHC) play key roles in the vertebrate immune system. However, our understanding of the evolutionary processes and underlying genetic mechanisms shaping these genes is limited in many taxa, including amphibians, a group currently impacted by emerging infectious diseases. To further elucidate the evolution of the MHC in frogs (anurans) and develop tools for population genetics, we surveyed allelic diversity of the MHC class II ??1 domain in both genomic and complementary DNA of seven New World species in the genus Rana (Lithobates). To assign locus affiliation to our alleles, we used a "gene walking" technique to obtain intron 2 sequences that flanked MHC class II?? exon 2. Two distinct intron sequences were recovered, suggesting the presence of at least two class II?? loci in Rana. We designed a primer pair that successfully amplified an orthologous locus from all seven Rana species. In total, we recovered 13 alleles and documented trans-species polymorphism for four of the alleles. We also found quantitative evidence of selection acting on amino acid residues that are putatively involved in peptide binding and structural stability of the ??1 domain of anurans. Our results indicated that primer mismatch can result in polymerase chain reaction (PCR) bias, which influences the number of alleles that are recovered. Using a single locus may minimize PCR bias caused by primer mismatch, and the gene walking technique was an effective approach for generating single-copy orthologous markers necessary for future studies of MHC allelic variation in natural amphibian populations. ?? 2010 Springer-Verlag.

  11. An Allele Real-Coded Quantum Evolutionary Algorithm Based on Hybrid Updating Strategy

    OpenAIRE

    Zhang, Yu-Xian; Qian, Xiao-Yi; Peng, Hui-Deng; Wang, Jian-Hui

    2016-01-01

    For improving convergence rate and preventing prematurity in quantum evolutionary algorithm, an allele real-coded quantum evolutionary algorithm based on hybrid updating strategy is presented. The real variables are coded with probability superposition of allele. A hybrid updating strategy balancing the global search and local search is presented in which the superior allele is defined. On the basis of superior allele and inferior allele, a guided evolutionary process as well as updating alle...

  12. Determining the frequencies of B1, B2, B3 and E alleles of the ...

    African Journals Online (AJOL)

    The allelic frequencies of the B1, B2, B3 and E alleles were 0.927, 0.073, 0.390, and 0.272, respectively. B1 and B2 alleles did not affect milk yield and composition. B3 allele had significant effects on protein, fat, total solid (TS), solid not fat (SNF), casein and lactose percentages, but not on lactose yield. E allele significantly ...

  13. 37 CFR 11.19 - Disciplinary jurisdiction; Jurisdiction to transfer to disability inactive status.

    Science.gov (United States)

    2010-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2010-07-01 2010-07-01 false Disciplinary jurisdiction; Jurisdiction to transfer to disability inactive status. 11.19 Section 11.19 Patents, Trademarks, and Copyrights... UNITED STATES PATENT AND TRADEMARK OFFICE Investigations and Disciplinary Proceedings; Jurisdiction...

  14. The cost of physical inactivity to a nation: the role of sports medicine ...

    African Journals Online (AJOL)

    disease, obesity, type 2 diabetes, etc.) is not well documented in. Africa, their meteoric rise is well publicised in the ... coded for by our genome. Furthermore, by delving into early man's patterns of nutrition, it appears that cycling periods of food availability programmed the body to respond to physical inactivity in a particular.

  15. 38 CFR 3.375 - Determination of inactivity (complete arrest) in tuberculosis.

    Science.gov (United States)

    2010-07-01

    ... inactivity (complete arrest) in tuberculosis. 3.375 Section 3.375 Pensions, Bonuses, and Veterans' Relief...) in tuberculosis. (a) Pulmonary tuberculosis. A veteran shown to have had pulmonary tuberculosis will...) Nonpulmonary disease. Determination of complete arrest of nonpulmonary tuberculosis requires absence of...

  16. Recreational physical inactivity and mortality in women with invasive epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Cannioto, Rikki A.; LaMonte, Michael J.; Kelemen, Linda E

    2016-01-01

    Background: Little is known about modifiable behaviours that may be associated with epithelial ovarian cancer (EOC) survival. We conducted a pooled analysis of 12 studies from the Ovarian Cancer Association Consortium to investigate the association between pre-diagnostic physical inactivity and m...

  17. The cost of policy inaction : the case of not meeting the 2010 biodiversity target

    NARCIS (Netherlands)

    Braat, L.C.; Brink, ten P.; Klok, T.C.

    2008-01-01

    The COPI methodology and valuation database. Change in land use, climate, pollution, water use; change in biodiversity; change in ecosystem functions; change in ecosystem services contributes to change in economic value. The Cost of Policy Inaction (COPI) is described in monitory terms. The outcome

  18. Comparison of Static Balance in Active and Inactive Adult and Elderly Men

    Directory of Open Access Journals (Sweden)

    Morteza Hajinia

    2013-04-01

    Full Text Available Objectives: The purpose of this study was to compare the static balance in active and inactive adult and elderly men. Methods & Materials: 55 active adult and elderly men and 49 inactive adult and elderly men participated in this cross sectional- comparative study. Static balance was measured by stork stand test with opened and closed eye. Gait velocity (time in active subjects was measured used Rockport walk test. Independent T-test was used to compare balance with opened and closed eye between two groups. To examine correlation between static balance with age and gait velocity, Pearson correlation coefficient was used. Statistical analysis was performed using SPSS-16 software package. Results: The results showed that balance with opened and closed eye were significantly higher in active subjects and inactive active subjects. In active subjects, there was no significant correlation between gait velocity and balance with opened and closed eye. There was significant negative correlation between static balance and age, as with increase age static balance decrease significantly. Conclusion: The results indicated that active (walking and Morning sports-based adult and elderly men have better static balance than inactive adult and elderly men, as a result of using walking training program. It is possible that walking with the overload on information transfer through Improve somatosensory systems, May improve the balance.

  19. The inactive X chromosome in the human female is enriched in 5 ...

    Indian Academy of Sciences (India)

    Unknown

    J. Genet. 82, 13–16]. Introduction. The hypothesis that methylation of cytosine residues in. DNA is a key step in the maintenance of the inactive state of the mammalian X chromosome (Holliday and. Pugh 1975; Riggs 1975) has found support from several types of experiment (Liskay and Evans 1980; Mohandas et al. 1981).

  20. 17 CFR 210.3-11 - Financial statements of an inactive registrant.

    Science.gov (United States)

    2010-04-01

    ... inactive entity as defined below, the financial statements required by this regulation for purposes of... 17 Commodity and Securities Exchanges 2 2010-04-01 2010-04-01 false Financial statements of an... COMMISSION FORM AND CONTENT OF AND REQUIREMENTS FOR FINANCIAL STATEMENTS, SECURITIES ACT OF 1933, SECURITIES...

  1. 2014 consensus statement from the first Economics of Physical Inactivity Consensus (EPIC) conference (Vancouver).

    Science.gov (United States)

    Davis, Jennifer C; Verhagen, Evert; Bryan, Stirling; Liu-Ambrose, Teresa; Borland, Jeff; Buchner, David; Hendriks, Marike R C; Weiler, Richard; Morrow, James R; van Mechelen, Willem; Blair, Steven N; Pratt, Mike; Windt, Johann; al-Tunaiji, Hashel; Macri, Erin; Khan, Karim M

    2014-06-01

    This article describes major topics discussed from the 'Economics of Physical Inactivity Consensus Workshop' (EPIC), held in Vancouver, Canada, in April 2011. Specifically, we (1) detail existing evidence on effective physical inactivity prevention strategies; (2) introduce economic evaluation and its role in health policy decisions; (3) discuss key challenges in establishing and building health economic evaluation evidence (including accurate and reliable costs and clinical outcome measurement) and (4) provide insight into interpretation of economic evaluations in this critically important field. We found that most methodological challenges are related to (1) accurately and objectively valuing outcomes; (2) determining meaningful clinically important differences in objective measures of physical inactivity; (3) estimating investment and disinvestment costs and (4) addressing barriers to implementation. We propose that guidelines specific for economic evaluations of physical inactivity intervention studies are developed to ensure that related costs and effects are robustly, consistently and accurately measured. This will also facilitate comparisons among future economic evidence. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  2. Sexual inactivity and occurrence of STIs in relation to weight status in women

    DEFF Research Database (Denmark)

    Gunge, Vibeke B; Juul, Kirsten E; van den Brule, Adriaan Jc

    2018-01-01

    The aim of this study was to examine sexual inactivity and occurrence of selected sexually transmitted infections in relation to body mass index. We used data from two large Danish population-based cross-sectional studies conducted in 1991-1995 (HPV study: 6869 women, aged 22-32 years) and in 200...

  3. Cosmopolitan Utilitarianism and the Problem of Local Inaction in a Globalized World

    Directory of Open Access Journals (Sweden)

    Fausto Corvino

    2015-10-01

    Full Text Available This article explores the problem of the public acceptability of political inaction as an extreme consequence of cosmopolitan utilitarianism. The case of political inaction as the utility-maximizing public policy option emerges more clearly in the globalized world, because of a misalignment between the electoral body and the persons that the government ought to consider while evaluating the consequences of a given policy. In this context, a situation can easily occur in which the only way to maximize utility in a global context is by renouncing action at the national or local level. However, the problem of inaction should not be interpreted simply as a by-product of globalization. Its origins can be traced to the basic structure of utilitarianism as a normative consequentialist theory. This drawback can even present itself at the local level in a less visible form. One example is that in which the performance of a supererogatory act in the exercise of public office leads to a reduction in overall utility. The aim of the article is to demonstrate that cosmopolitan utilitarianism can bind the decision maker to a series of inactions at the global and local levels that contradict his own mandate, generating a dangerous moral confusion in the implementation of public policies. This can seriously threaten the universal applicability of cosmopolitan utilitarianism as a normative political theory, especially in the age of globalization.

  4. The association of physical inactivity with Type 2 diabetes among different ethnic groups

    NARCIS (Netherlands)

    Admiraal, W. M.; van Valkengoed, I. G. M.; L de Munter, J. S.; Stronks, K.; Hoekstra, J. B. L.; Holleman, F.

    2011-01-01

    Diabet. Med. 28, 668-672 (2011) ABSTRACT: Aims  To study differences in the association between physical inactivity and Type 2 diabetes among subjects from different ethnic groups. Methods  We analysed data on 508 Caucasian, 596 African-Surinamese and 339 Hindustani-Surinamese participants, aged

  5. Effect of physical inactivity on major non-communicable diseases worldwide

    DEFF Research Database (Denmark)

    Lee, I-Min; Shiroma, Eric J; Lobelo, Felipe

    2012-01-01

    Strong evidence shows that physical inactivity increases the risk of many adverse health conditions, including major non-communicable diseases such as coronary heart disease, type 2 diabetes, and breast and colon cancers, and shortens life expectancy. Because much of the world's population is ina...

  6. Wheelchair-specific fitness of inactive people with long-term spinal cord injury

    NARCIS (Netherlands)

    van der Scheer, Jan W.; de Groot, Sonja; Tepper, Marga; Gobets, David; Veeger, DirkJan H. E. J.; van der Woude, Lucas H. V.

    Objectives: To describe wheelchair-specific anaerobic work capacity, isometric strength and peak aerobic work capacity of physically inactive people with long-term spinal cord injury using outcomes of tests that are feasible for use in rehabilitation centres, and to determine associations among

  7. Validity and reliability of a physical activity/inactivity questionnaire in ...

    African Journals Online (AJOL)

    Objective. We sought to determine the validity and reliability of a self-report physical activity questionnaire (PAQ) measuring physical activity/inactivity in South African schoolgirls of different ethnic origins. Methods. Construct validity of the PAQ was tested against physical activity energy expenditure estimated from an ...

  8. Living near the port area is associated with physical inactivity and sedentary behavior

    Directory of Open Access Journals (Sweden)

    Evandro Fornias Sperandio

    Full Text Available ABSTRACT CONTEXT AND OBJECTIVE: The impact of the port of Santos, Brazil, on the population’s health is unknown. We aimed to evaluate the association between living near the port area and physical inactivity and sedentary behavior. DESIGN AND SETTING: Cross-sectional study developed at a university laboratory and a diagnostic clinic. METHODS: 553 healthy adults were selected and their level of physical activity in daily life was assessed using accelerometers. Multiple linear and logistic regressions were performed using physical inactivity and sedentary behavior as the outcomes and living near the port area as the main risk factor, with adjustments for the main confounders. RESULTS: Among all the participants, 15% were resident near the port area. They took 699 steps/day and presented, weekly, 2.4% more sedentary physical activity, 2.0% less time in standing position and 0.9% more time lying down than residents of other regions. Additionally, living near the port area increased the risk of physical inactivity by 2.50 times and the risk of higher amounts of sedentary behavior (≥ 10 hours/day by 1.32 times. CONCLUSION: Living near the port of Santos is associated with physical inactivity and higher sedentary behavior among adults, regardless of confounders. The reasons for this association should be investigated in longitudinal studies.

  9. Manipulation and mobilisation for neck pain contrasted against an inactive control or another active treatment

    NARCIS (Netherlands)

    Gross, Anita; Langevin, Pierre; Burnie, Stephen J.; Bédard-Brochu, Marie-Sophie; Empey, Brian; Dugas, Estelle; Faber-Dobrescu, Michael; Andres, Cristy; Graham, Nadine; Goldsmith, Charles H.; Brønfort, Gert; Hoving, Jan L.; LeBlanc, Francis

    2015-01-01

    Manipulation and mobilisation are commonly used to treat neck pain. This is an update of a Cochrane review first published in 2003, and previously updated in 2010. To assess the effects of manipulation or mobilisation alone compared wiith those of an inactive control or another active treatment on

  10. Artist-Teachers' In-Action Mental Models While Teaching Visual Arts

    Science.gov (United States)

    Russo-Zimet, Gila

    2017-01-01

    Studies have examined the assumption that teachers have previous perceptions, beliefs and knowledge about learning (Cochran-Smith & Villegas, 2015). This study presented the In-Action Mental Model of twenty leading artist-teachers while teaching Visual Arts in three Israeli art institutions of higher Education. Data was collected in two…

  11. Contaminant transport, revegetation, and trace element studies at inactive uranium mill tailings piles

    International Nuclear Information System (INIS)

    Dreesen, D.R.; Marple, M.L.; Kelley, N.E.

    1978-01-01

    The stabilization of inactive uranium mill tailings piles is presently under study. These studies have included investigations of stabilizing tailings by attempting to establish native vegetation without applying irrigation. Examination of processes which transport tailings or associated contaminants into the environment has been undertaken to better understand the containment provided by various stabilization methods. The uptake of toxic trace elements and radionuclides by vegetation has been examined as a mechanism of contaminant transport. The source terms of 222 Rn from inactive piles have been determined as well as the attenuation of radon flux provided by shallow soil covers. The possibility of shallow ground water contamination around an inactive pile has been examined to determine the significance of ground water transport as a mode of contaminant migration. The rationale in support of trace element studies related to uranium milling activities is presented including the enrichment, migration, and toxicities of trace elements often associated with uranium deposits. Some concepts for the stabilization of inactive piles are presented to extrapolate from research findings to practical applications. 25 references, 8 tables

  12. Supporting healthcare professionals to encourage patients to decrease cardiovascular risk attributable to physical inactivity

    NARCIS (Netherlands)

    Drs. Barbara Sassen

    2011-01-01

    The consequences of cardiovascular diseases are substantial and include increasing numbers of morbidity and mortality. With a population getting more and more inactive and having a sedentary lifestyle, the risk for cardiovascular disease and type 2 diabetes rises. This dissertation reports on people

  13. Physical inactivity and pain in older men and women with hip fracture history

    NARCIS (Netherlands)

    Salpakoski, Anu; Portegijs, Erja; Kallinen, Mauri; Sihvonen, Sanna; Kiviranta, Ilkka; Alen, Markku; Rantanen, Taina; Sipilä, Sarianna

    2011-01-01

    Hip fracture patients often suffer from pain for several months after surgery. This may lead to physical inactivity and subsequent mobility limitation and disability. The purpose of this study was to investigate the association between severe musculoskeletal pain and the level of physical activity

  14. Emotional Outlook on Life Predicts Increases in Physical Activity among Initially Inactive Men

    Science.gov (United States)

    Baruth, Meghan; Lee, Duck-Chul; Sui, Xuemei; Church, Timothy S.; Marcus, Bess H.; Wilcox, Sara; Blair, Steven N.

    2011-01-01

    This study examined the relationship between emotional outlook on life and change in physical activity among inactive adults in the Aerobics Center Longitudinal Study. A total of 2,132 sedentary adults completed a baseline medical examination and returned for a follow-up examination at least 6 months later. Participants self-reported physical…

  15. Physical inactivity and obesity: Using a novel environmental quality measure to control confounding

    Science.gov (United States)

    Physical inactivity is well-established as a contributor to obesity prevalence in the US. Many aspects of the ambient environment (e.g., air pollution, food deserts, neighborhood socioeconomics) have also been associated with obesity. Yet, controlling for the overall ambient envi...

  16. Past-Year Sexual Inactivity among Older Married Persons and Their Partners

    Science.gov (United States)

    Karraker, Amelia; DeLamater, John

    2013-01-01

    Family scholars have focused on the onset of sexual activity early in the life course, but little is known about the cessation of sexual activity in relationships in later life. We use event-history analysis techniques and logistic regression to identify the correlates of sexual inactivity among older married men and women. We analyze data for…

  17. The inactive X chromosome in the human female is enriched in 5 ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 82; Issue 1-2. The inactive X chromosome in the human female is enriched in 5-methylcytosine to an unusual degree and appears to contain more of this modified nucleotide than the remainder of the genome. Deepti D. Deobagkar H. Sharat Chandra. Volume 82 Issue 1-2 ...

  18. Epidemiology of physical inactivity, sedentary behaviors, and unhealthy eating habits among brazilian adolescents: a systematic review

    Directory of Open Access Journals (Sweden)

    Valter Cordeiro Barbosa Filho

    2014-01-01

    Full Text Available This systematic review analyzed the prevalence of physical inactivity, sedentary behaviors and unhealthy eating habits among Brazilian adolescents. Searches were conducted in five databases (Lilacs, SciELO, Medline, Web of Science, and Google Scholar and in the references cited in the articles retrieved. The literature search yielded 5,872 potentially relevant titles and a total of 69 studies met all the inclusion criteria. The risk behavior most often evaluated was physical inactivity (48/69; 69.6%, and its prevalence rate ranged from 2.3% to 93.5%. Twenty-eight studies estimated the prevalence of physical inactivity at over 50%. Most studies observed the prevalence of greater physical inactivity among girls. The prevalence of sedentary behaviors (lengthy screen time or TV use was also frequently over 50%. Several variables were used to identify unhealthy eating habits, and some criteria/studies have indicated unhealthy eating habit estimates at close to 100% among adolescents. In conclusion, the estimates of these risk behaviors among Brazilians adolescents were very close to or even greater than those found in developed countries in several studies analyzed in this review.

  19. Social Cognitive Correlates of Physical Activity in Inactive Adults with Multiple Sclerosis

    Science.gov (United States)

    Dlugonski, Deirdre; Wojcicki, Thomas R.; McAuley, Edward; Motl, Robert W.

    2011-01-01

    Persons with multiple sclerosis (MS) are often physically inactive. This observation has prompted the search for modifiable constructs derived from established theories that act as correlates of physical activity. This study investigated self efficacy, outcome expectations, impediments, and goal setting as correlates of physical activity in…

  20. Wheelchair-Specific Fitness of Inactive People with Long-Term Spinal Cord Injury

    NARCIS (Netherlands)

    van der Scheer, J.W.; de Groot, S.; Tepper, M.; Gobets, D.; Veeger, H.E.J.; van der Woude, L.H.V.

    2015-01-01

    Objectives: To describe wheelchair-specific anaerobic work capacity, isometric strength and peak aerobic work capacity of physically inactive people with long-term spinal cord injury using outcomes of tests that are feasible for use in rehabilitation centres, and to determine associations among

  1. Wheelchair-specific fitness of inactive people with long-term spinal cord injury

    NARCIS (Netherlands)

    Van der Scheer, J.W.; De Groot, S.; Tepper, M.; Gobets, D.; Veeger, H.E.J.; Van der Woude, L.H.V.; Woldring, F.; Valent, L.; Slootman, H.; Faber, W.

    2015-01-01

    Objectives: To describe wheelchair-specific anaerobic work capacity, isometric strength and peak aerobic work capacity of physically inactive people with long-term spinal cord injury using outcomes of tests that are feasible for use in rehabilitation centres, and to determine associations among

  2. Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.

    Science.gov (United States)

    Pang, Xiuhong; Chai, Yongchuan; Chen, Penghui; He, Longxia; Wang, Xiaowen; Wu, Hao; Yang, Tao

    2015-08-01

    Recessive mutations of SLC26A4 are the major cause of hearing impairment associated with enlarged vestibular aqueduct (EVA). In a significant percentage of non-syndromic EVA patients, however, only mono-allelic mutations of SLC26A4 can be identified. In this study, we aimed to evaluate whether presence of mono-allelic mutations of SLC26A4 in those patients was coincidental or etiologically associated with the disorder. The exons and flanking splicing sites of SLC26A4 were sequenced in 150 Chinese Han deaf probands with non-syndromic EVA. c.919-2A >G and p.H723R, two frequent mutations of SLC26A4 in Chinese Hans, were screened by an allele-specific PCR-based array in 3056 ethnically-matched normal hearing controls. The frequency of mono-allelic c.919-2A >G and p.H723R mutations was determined in each group. The statistical significance of the difference was analyzed by Fisher's exact test. Bi-allelic, mono-allelic and no mutation of SLC26A4 were detected in 98 (65.3%), 18 (12%) and 34 (22.67%) deaf probands with non-syndromic EVA, respectively. The frequency of mono-allelic c.919-2A >G and p.H723R mutations were significantly higher in the 150 deaf probands with non-syndromic EVA (8.67%) than in the 3056 normal hearing controls (1.4%, P=1.8×10(-6)). Presence of mono-allelic mutations of SLC26A4 in non-syndromic EVA patients is etiologically associated with this disorder. Additional genetic or environmental causes may be present in those patients and demand further investigation and consideration during the genetic diagnosis and counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Experiments to Demonstrate Change in Allelic Frequency by ...

    Indian Academy of Sciences (India)

    Admin

    a number of factors such as migration from or to other populations, mutation, selection and random ... beneficial, neutral, or detrimental to reproductive success. The statistical effect of sampling error ... original population, and through the random sampling of alleles during reproduction of sub- sequent generations, continue ...

  4. Estimating and testing the effect of allelic recombination on the ...

    African Journals Online (AJOL)

    Jane

    2011-01-21

    Jan 21, 2011 ... The significance of the correlation coefficient as well as the fitted regression model was obtained using. Analysis of Variance method. Key words: Allele, genotype, regression, correlation, F-ratio, analysis of variance. INTRODUCTION. Genetic recombination is an effective means of combining one individual ...

  5. Haplotype allelic classes for detecting ongoing positive selection

    Directory of Open Access Journals (Sweden)

    Lefebvre Jean-François

    2010-01-01

    Full Text Available Abstract Background Natural selection eliminates detrimental and favors advantageous phenotypes. This process leaves characteristic signatures in underlying genomic segments that can be recognized through deviations in allelic or haplotypic frequency spectra. To provide an identifiable signature of recent positive selection that can be detected by comparison with the background distribution, we introduced a new way of looking at genomic polymorphisms: haplotype allelic classes. Results The model combines segregating sites and haplotypic information in order to reveal useful data characteristics. We developed a summary statistic, Svd, to compare the distribution of the haplotypes carrying the selected allele with the distribution of the remaining ones. Coalescence simulations are used to study the distributions under standard population models assuming neutrality, demographic scenarios and selection models. To test, in practice, haplotype allelic class performance and the derived statistic in capturing deviation from neutrality due to positive selection, we analyzed haplotypic variation in detail in the locus of lactase persistence in the three HapMap Phase II populations. Conclusions We showed that the Svd statistic is less sensitive than other tests to confounding factors such as demography or recombination. Our approach succeeds in identifying candidate loci, such as the lactase-persistence locus, as targets of strong positive selection and provides a new tool complementary to other tests to study natural selection in genomic data.

  6. MHC class II DR allelic diversity in bighorn sheep

    Science.gov (United States)

    We hypothesized that decreased diversity and/or unique polymorphisms in MHC class II alleles of bighorn sheep (BHS, Ovis canadensis) are responsible for lower titer of antibodies against Mannheimia haemolytica leukotoxin, in comparison to domestic sheep (DS, Ovis aries). To test this hypothesis, DRA...

  7. Distribution of forensic marker allelic frequencies in Pernambuco, Northestern Brazil.

    Science.gov (United States)

    Santos, S M; Souza, C A; Rabelo, K C N; Souza, P R E; Moura, R R; Oliveira, T C; Crovella, S

    2015-04-30

    Pernambuco is one of the 27 federal units of Brazil, ranking seventh in the number of inhabitants. We examined the allele frequencies of 13 short tandem repeat loci (CFS1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, vWA, and TPOX), the minimum recommended by the Federal Bureau of Investigation and commonly used in forensic genetics laboratories in Brazil, in a sample of 609 unrelated individuals from all geographic regions of Pernambuco. The allele frequencies ranged from 5 to 47.2%. No significant differences for any loci analyzed were observed compared with other publications in other various regions of Brazil. Most of the markers observed were in Hardy-Weinberg equilibrium. The occurrence of the allele 47.2 (locus FGA) and alleles 35.1 and 39 (locus D21S11), also described in a single study of the Brazilian population, was observed. The other forensic parameters analyzed (matching probability, power of discrimination, polymorphic information content, paternity exclusion, complement factor I, observed heterozygosity, expected heterozygosity) indicated that the studied markers are very informative for human forensic identification purposes in the Pernambuco population.

  8. Molecular monitoring of resistant dhfr and dhps allelic haplotypes in ...

    African Journals Online (AJOL)

    Objective: The present study assesses the frequency of resistant dhfr and dhps alleles in Morogoro-Mvomero district in south eastern Tanzania and contrast their rate of change during 17 years of SP second line use against five years of SP first line use. Methodology: Cross sectional surveys of asymptomatic infections were ...

  9. Comparison of bovine lymphocyte antigen DRB3.2 allele ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-08-04

    Aug 4, 2008 ... polymorphic bovine MHC class II gene which encodes the peptide-binding groove. Since different ... patibility Complex (MHC) of cattle is known as Bovine .... Table 1. Frequencies of BoLA-DRB3.2 alleles detected by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).

  10. Allelic variations of functional markers for polyphenol oxidase (PPO)

    Indian Academy of Sciences (India)

    Allelic variations of functional markers for polyphenol oxidase (PPO) genes in Indian bread wheat (Triticum aestivum L.) cultivars. Rajender Singh, Umesh Goutam, R. K. Gupta, G. C. Pandey, Jag Shoran and Ratan Tiwari. J. Genet. 88, 325–329. Figure 1. Phenol colour reaction of kernels. Kernels without treatment by ...

  11. Allelic variation of HMW glutenin subunits of Ethiopian bread wheat ...

    African Journals Online (AJOL)

    There were highly significant differences between genotypes and banding patterns for the SDS-sedimentation test, mixograph development time, alveograph strength and loaf volume; but not for protein content. The frequency of subunits 5+10 among genotypes was 73%. The accumulation of high scoring alleles in our ...

  12. Allelic reůationships of Pea Nodulation Mutants

    Czech Academy of Sciences Publication Activity Database

    Novák, Karel

    2003-01-01

    Roč. 94, č. 2 (2003), s. 191-193 ISSN 0022-1503 R&D Projects: GA ČR GA521/00/0937 Institutional research plan: CEZ:AV0Z5020903 Keywords : allelic * relationships * pea Subject RIV: EE - Microbiology, Virology Impact factor: 1.707, year: 2003

  13. Distribution of HIV-1 resistance-conferring polymorphic alleles SDF ...

    Indian Academy of Sciences (India)

    ... number of mutant alleles (for the three loci together) carried by each individual varies from 0.475 (in Vizag Brahmins) to 0.959 (in Bohra Muslims). The estimated relative hazard values for the populations, computed from the three-locus genotype data, are comparable to those from Africa and Southeast Asia, where AIDS is ...

  14. Comparison of bovine lymphocyte antigen DRB3.2 allele ...

    African Journals Online (AJOL)

    The bovine lymphocyte antigen (BoLA-DRB3) gene encodes cell surface glycoproteins that initiate immune responses by presenting processed antigenic peptides to CD4 T helper cells. DRB3 is the most polymorphic bovine MHC class II gene which encodes the peptide-binding groove. Since different alleles favor the ...

  15. Novel HLA Class I Alleles Associated with Indian Leprosy Patients

    Directory of Open Access Journals (Sweden)

    U. Shankarkumar

    2003-01-01

    A*0101, Cw*04011, and Cw*0602 leprosy patients was observed when compared to the controls. Further haplotype A*1102-B*4006-Cw*1502 was significantly increased among the lepromatous leprosy patients when compared to the controls. It seems that HLA class I alleles play vital roles in disease association/pathogenesis with leprosy among Indians.

  16. The 'rare allele phenomenon' in a ribosomal spacer

    NARCIS (Netherlands)

    Schilthuizen, M.; Hoekstra, R.F.; Gittenberger, E.

    2001-01-01

    We describe the increased frequency of a particular length variant of the internal transcribed spacer 1 (ITS-1) of the ribosomal DNA in a hybrid zone of the land snail Albinaria hippolyti. The phenomenon that normally rare alleles or other markers can increase in frequency in the centre of hybrid

  17. Allelic drop-out probabilities estimated by logistic regression

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Eriksen, Poul Svante; Asplund, Maria

    2012-01-01

    We discuss the model for estimating drop-out probabilities presented by Tvedebrink et al. [7] and the concerns, that have been raised. The criticism of the model has demonstrated that the model is not perfect. However, the model is very useful for advanced forensic genetic work, where allelic dro...

  18. Allele frequency analysis of Chinese chestnut ( Castanea mollissima ...

    African Journals Online (AJOL)

    The aim of this study was to establish a method for allele frequency detection in bulk samples. The abundance of polymerase chain reaction (PCR) products in bulk leaf samples was detected using fluorescent labeled Simple sequence repeat (SSR) primers and an Applied biosystems (AB) automatic DNA analyzer.

  19. weight glutenin subunits and waxy alleles on dough-mix

    Indian Academy of Sciences (India)

    weight glutenin subunits and waxy alleles on dough-mixing properties in common wheat. Zhiying Deng, Shuna Hu, Feifei Zheng, Junnan Chen, Xinye Zhang, Jiansheng Chen, Cailing Sun,. Yongxiang Zhang, Shouyi Wang and Jichun Tian. J. Genet. 92, 69–79. Table 1. The data of the mixing properties of the RIL population ...

  20. HLA-A alleles differentially associate with severity to Plasmodium ...

    African Journals Online (AJOL)

    Human Leukocyte Antigen (HLA), particularly HLA-B and class II alleles have been differentially associated with disease outcomes in different populations following infection with the malaria Plasmodium falciparum. However, the effect of HLA-A on malaria infection and/or disease is not fully understood. Recently, HLA-A ...

  1. Introgression of Crop Alleles into Wild or Weedy Populations

    NARCIS (Netherlands)

    Ellstrand, N.C.; Meirmans, P.; Rong, J.; Bartsch, D.; Ghosh, A.; de Jong, T.J.; Haccou, P.; Lu, B-R.; Snow, A.A.; Stewart, C.N.; Strasburg, J.L.; van Tienderen, P.H.; Vrieling, K; Hooftman, D.A.P.

    2013-01-01

    The evolutionary significance of introgression has been discussed for decades. Questions about potential impacts of transgene flow into wild and weedy populations brought renewed attention to the introgression of crop alleles into those populations. In the past two decades, the field has advanced

  2. Allelic Frequency Analysis of Chinese Chestnut (Castanea mollissima)

    African Journals Online (AJOL)

    Chengxiang Ai

    The aim of this study was to establish a method for allele frequency detection in bulk samples. The abundance of polymerase chain reaction (PCR) products in bulk leaf samples was detected using fluorescent labeled Simple sequence repeat (SSR) primers and an Applied biosystems (AB) automatic. DNA analyzer.

  3. [Physical inactivity and anthropometric measures in school children from Paranavaí, Paraná, Brazil].

    Science.gov (United States)

    Guilherme, Flávio Ricardo; Molena-Fernandes, Carlos Alexandre; Guilherme, Vânia Renata; Fávero, Maria Teresa Martins; dos Reis, Eliane Josefa Barbosa; Rinaldi, Wilson

    2015-01-01

    To investigate the association between physical inactivity and anthropometric measurements in school children from Paranavaí-Paraná, Brazil. Cross-sectional survey, conducted in July and August 2013. Sample of 566 students (287 boys and 278 girls) from 6th to 9th grade aged 10 to 14 years of public and private schools from Paranavaí-PR, Southern Brazil. The variables analyzed were: time of weekly physical activity by a questionnaire (physical inactivity <300 minutes/week), body mass index (BMI) and waist circumference (WC). In the statistical analysis the U Mann-Whitney and Student t test were used for comparison between genders. To identify factors associated with insufficient levels of physical activity, univariate and multivariate logistic regression analysis was applied and expressed in Odds ratio (OR) and 95% confidence interval (CI). There was an association between physical inactivity and anthropometric measurements for BMI (p<0.001) and WC (p<0.001), with a prevalence rate of 56.1% and 52.7% of inactive adolescents, respectively. In the multivariate analysis, there was significant association of physical inactivity and overweight (OR 1.8, 95%CI: 1.1-3.0) and with increased waist circumference (OR 2.8, 95%CI: 1.4-3.8). Inadequate levels of physical activity is a determining factor for overweight and abdominal adiposity. Accordingly, preventive measures should be taken, especially in schools, emphasizing the importance of exercise in the control of body composition and reduction of weight. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  4. Self-Esteem in People with Physical Disabilities: Differences between Active and Inactive Individuals

    Directory of Open Access Journals (Sweden)

    Nemček Dagmar

    2017-05-01

    Full Text Available The aim of the study was to determine the status of SE in people with physical disabilities (PwPD and compare SE scores between active and inactive individuals. The sample of PwPD (n = 186 was divided into two groups of those who are regularly participating in sport (active; n = 88 and those who are not participating in any sport in their leisure (inactive; n = 98. The Rosenberg Self-Esteem Scale (RSES was used as a primary research method. 10-item scale measures global self-worth by measuring positive and negative feelings about the self. Higher scores (from 10 to 40 points indicate higher SE. The Pearson chi-square test was used to determine the differences of 10 RSES items and total scores between active and inactive PwPD. We found that the mean score of RSES in PwPD was 28.83 points; active PwPD observed total score of RSES 30.01 points and group of inactive PwPD showed the lowest SE by achieving 27.76 points. Mean scores comparison of each RSES item between active and inactive PwPD revealed higher SE in the group of active PwPD. Significantly higher SE was presented by 4 from 10 RSES items and by total score in the group of active PwPD. The results of our study confirmed that actively living PwPD have significantly higher SE comparing those PwPD who are living sedentary life style.

  5. Trends in social inequality in physical inactivity among Danish adolescents 1991–2014

    Directory of Open Access Journals (Sweden)

    N.F. Johnsen

    2017-12-01

    Full Text Available The aim of this study was to investigate social inequality in physical inactivity among adolescents from 1991 to 2014 and to describe any changes in inequality during this period. The analyses were based on data from the Danish part of the HBSC study, which consists of seven comparable cross-sectional studies of nationally representative samples of 11–15-year old adolescents. The available data consisted of weekly time (hours spent on vigorous physical activity and parental occupation from 30,974 participants. In summary, 8.0% of the adolescents reported to be physically inactive, i.e. spend zero hours of vigorous leisure time physical activity per week. The proportion of physically inactive adolescents was 5.4% in high social class and 7.8% and 10.8%, respectively, in middle and low social class. The absolute social inequality measured as prevalence difference between low and high social class did not change systematically across the observation period from 1991 to 2014. Compared to high social class, OR (95% CI for physical inactivity was 1.48 (1.32–1.65 in middle social class and 2.18 (1.92–2.47 in lower social class. This relative social inequality was similar in the seven data collection waves (p=0.971. Although the gap in physical inactivity between social classes does not seem to be widening in Danish adolescents, there are still considerable differences in the activity levels between high, middle and low social class adolescents. Consequently, there is a need for a targeted physical activity intervention among adolescents from low (and middle social class.

  6. A national survey of 'inactive' physicians in the United States of America: enticements to reentry

    Directory of Open Access Journals (Sweden)

    Brotherton Sarah E

    2011-02-01

    Full Text Available Abstract Background Physicians leaving and reentering clinical practice can have significant medical workforce implications. We surveyed inactive physicians younger than typical retirement age to determine their reasons for clinical inactivity and what barriers, real or perceived, there were to reentry into the medical workforce. Methods A random sample of 4975 inactive physicians aged under 65 years was drawn from the Physician Masterfile of the American Medical Association in 2008. Physicians were mailed a survey about activity in medicine and perceived barriers to reentry. Chi-square statistics were used for significance tests of the association between categorical variables and t-tests were used to test differences between means. Results Our adjusted response rate was 36.1%. Respondents were fully retired (37.5%, not currently active in medicine (43.0% or now active (reentered, 19.4%. Nearly half (49.5% were in or had practiced primary care. Personal health was the top reason for leaving for fully retired physicians (37.8% or those not currently active in medicine (37.8% and the second highest reason for physicians who had reentered (28.8%. For reentered (47.8% and inactive (51.5% physicians, the primary reason for returning or considering returning to practice was the availability of part-time work or flexible scheduling. Retired and currently inactive physicians used similar strategies to explore reentry, and 83% of both groups thought it would be difficult; among those who had reentered practice, 35.9% reported it was difficult to reenter. Retraining was uncommon for this group (37.5%. Conclusion Availability of part-time work and flexible scheduling have a strong influence on decisions to leave or reenter clinical practice. Lack of retraining before reentry raises questions about patient safety and the clinical competence of reentered physicians.

  7. Trends in social inequality in physical inactivity among Danish adolescents 1991-2014.

    Science.gov (United States)

    Johnsen, N F; Toftager, M; Melkevik, O; Holstein, B E; Rasmussen, M

    2017-12-01

    The aim of this study was to investigate social inequality in physical inactivity among adolescents from 1991 to 2014 and to describe any changes in inequality during this period. The analyses were based on data from the Danish part of the HBSC study, which consists of seven comparable cross-sectional studies of nationally representative samples of 11-15-year old adolescents. The available data consisted of weekly time (hours) spent on vigorous physical activity and parental occupation from 30,974 participants. In summary, 8.0% of the adolescents reported to be physically inactive, i.e. spend zero hours of vigorous leisure time physical activity per week. The proportion of physically inactive adolescents was 5.4% in high social class and 7.8% and 10.8%, respectively, in middle and low social class. The absolute social inequality measured as prevalence difference between low and high social class did not change systematically across the observation period from 1991 to 2014. Compared to high social class, OR (95% CI) for physical inactivity was 1.48 (1.32-1.65) in middle social class and 2.18 (1.92-2.47) in lower social class. This relative social inequality was similar in the seven data collection waves (p=0.971). Although the gap in physical inactivity between social classes does not seem to be widening in Danish adolescents, there are still considerable differences in the activity levels between high, middle and low social class adolescents. Consequently, there is a need for a targeted physical activity intervention among adolescents from low (and middle) social class.

  8. Promoter variants of Xa23 alleles affect bacterial blight resistance and evolutionary pattern.

    Science.gov (United States)

    Cui, Hua; Wang, Chunlian; Qin, Tengfei; Xu, Feifei; Tang, Yongchao; Gao, Ying; Zhao, Kaijun

    2017-01-01

    Bacterial blight, caused by Xanthomonas oryzae pv. oryzae (Xoo), is the most important bacterial disease in rice (Oryza sativa L.). Our previous studies have revealed that the bacterial blight resistance gene Xa23 from wild rice O. rufipogon Griff. confers the broadest-spectrum resistance against all the naturally occurring Xoo races. As a novel executor R gene, Xa23 is transcriptionally activated by the bacterial avirulence (Avr) protein AvrXa23 via binding to a 28-bp DNA element (EBEAvrXa23) in the promoter region. So far, the evolutionary mechanism of Xa23 remains to be illustrated. Here, a rice germplasm collection of 97 accessions, including 29 rice cultivars (indica and japonica) and 68 wild relatives, was used to analyze the evolution, phylogeographic relationship and association of Xa23 alleles with bacterial blight resistance. All the ~ 473 bp DNA fragments consisting of promoter and coding regions of Xa23 alleles in the germplasm accessions were PCR-amplified and sequenced, and nine single nucleotide polymorphisms (SNPs) were detected in the promoter regions (~131 bp sequence upstream from the start codon ATG) of Xa23/xa23 alleles while only two SNPs were found in the coding regions. The SNPs in the promoter regions formed 5 haplotypes (Pro-A, B, C, D, E) which showed no significant difference in geographic distribution among these 97 rice accessions. However, haplotype association analysis indicated that Pro-A is the most favored haplotype for bacterial blight resistance. Moreover, SNP changes among the 5 haplotypes mostly located in the EBE/ebe regions (EBEAvrXa23 and corresponding ebes located in promoters of xa23 alleles), confirming that the EBE region is the key factor to confer bacterial blight resistance by altering gene expression. Polymorphism analysis and neutral test implied that Xa23 had undergone a bottleneck effect, and selection process of Xa23 was not detected in cultivated rice. In addition, the Xa23 coding region was found highly

  9. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

    Science.gov (United States)

    Stanescu, Horia C; Arcos-Burgos, Mauricio; Medlar, Alan; Bockenhauer, Detlef; Kottgen, Anna; Dragomirescu, Liviu; Voinescu, Catalin; Patel, Naina; Pearce, Kerra; Hubank, Mike; Stephens, Henry A F; Laundy, Valerie; Padmanabhan, Sandosh; Zawadzka, Anna; Hofstra, Julia M; Coenen, Marieke J H; den Heijer, Martin; Kiemeney, Lambertus A L M; Bacq-Daian, Delphine; Stengel, Benedicte; Powis, Stephen H; Brenchley, Paul; Feehally, John; Rees, Andrew J; Debiec, Hanna; Wetzels, Jack F M; Ronco, Pierre; Mathieson, Peter W; Kleta, Robert

    2011-02-17

    Idiopathic membranous nephropathy is a major cause of the nephrotic syndrome in adults, but its etiologic basis is not fully understood. We investigated the genetic basis of biopsy-proven cases of idiopathic membranous nephropathy in a white population. We performed independent genomewide association studies of single-nucleotide polymorphisms (SNPs) in patients with idiopathic membranous nephropathy from three populations of white ancestry (75 French, 146 Dutch, and 335 British patients). The patients were compared with racially matched control subjects; population stratification and quality controls were carried out according to standard criteria. Associations were calculated by means of a chi-square basic allele test; the threshold for significance was adjusted for multiple comparisons (with the Bonferroni method). In a joint analysis of data from the 556 patients studied (398 men), we identified significant alleles at two genomic loci associated with idiopathic membranous nephropathy. Chromosome 2q24 contains the gene encoding M-type phospholipase A(2) receptor (PLA(2)R1) (SNP rs4664308, P=8.6×10(-29)), previously shown to be the target of an autoimmune response. Chromosome 6p21 contains the gene encoding HLA complex class II HLA-DQ alpha chain 1 (HLA-DQA1) (SNP rs2187668, P=8.0×10(-93)). The association with HLA-DQA1 was significant in all three populations (P=1.8×10(-9), P=5.6×10(-27), and P=5.2×10(-36) in the French, Dutch, and British groups, respectively). The odds ratio for idiopathic membranous nephropathy with homozygosity for both risk alleles was 78.5 (95% confidence interval, 34.6 to 178.2). An HLA-DQA1 allele on chromosome 6p21 is most closely associated with idiopathic membranous nephropathy in persons of white ancestry. This allele may facilitate an autoimmune response against targets such as variants of PLA2R1. Our findings suggest a basis for understanding this disease and illuminate how adaptive immunity is regulated by HLA.

  10. Comprehensive genotyping in two homogeneous Graves' disease samples reveals major and novel HLA association alleles.

    Directory of Open Access Journals (Sweden)

    Pei-Lung Chen

    Full Text Available BACKGROUND: Graves' disease (GD is the leading cause of hyperthyroidism and thyroid eye disease inherited as a complex trait. Although geoepidemiology studies showed relatively higher prevalence of GD in Asians than in Caucasians, previous genetic studies were contradictory concerning whether and/or which human leukocyte antigen (HLA alleles are associated with GD in Asians. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a case-control association study (499 unrelated GD cases and 504 controls and a replication in an independent family sample (419 GD individuals and their 282 relatives in 165 families. To minimize genetic and phenotypic heterogeneity, we included only ethnic Chinese Han population in Taiwan and excluded subjects with hypothyroidism. We performed direct and comprehensive genotyping of six classical HLA loci (HLA-A, -B, -C, -DPB1, -DQB1 and -DRB1 to 4-digit resolution. Combining the data of two sample populations, we found that B*46:01 (odds ratio under dominant model [OR]  = 1.33, Bonferroni corrected combined P [P(Bc]  = 1.17 x 10⁻², DPB1*05:01 (OR  = 2.34, P(Bc = 2.58 x 10⁻¹⁰, DQB1*03:02 (OR  = 0.62, P(Bc  = 1.97 x 10⁻², DRB1*15:01 (OR  = 1.68, P(Bc = 1.22 x 10⁻² and DRB1*16:02 (OR  = 2.63, P(Bc  = 1.46 x 10⁻⁵ were associated with GD. HLA-DPB1*05:01 is the major gene of GD in our population and singly accounts for 48.4% of population-attributable risk. CONCLUSIONS/SIGNIFICANCE: These GD-associated alleles we identified in ethnic Chinese Hans, and those identified in other Asian studies, are totally distinct from the known associated alleles in Caucasians. Identification of population-specific association alleles is the critical first step for individualized medicine. Furthermore, comparison between different susceptibility/protective alleles across populations could facilitate generation of novel hypothesis about GD pathophysiology and indicate a new direction for future

  11. Bipolar disorder risk alleles in children with ADHD.

    Science.gov (United States)

    Schimmelmann, B G; Hinney, A; Scherag, A; Pütter, C; Pechlivanis, S; Cichon, S; Jöckel, K-H; Schreiber, S; Wichmann, H E; Albayrak, Ö; Dauvermann, M; Konrad, K; Wilhelm, C; Herpertz-Dahlmann, B; Lehmkuhl, G; Sinzig, J; Renner, T J; Romanos, M; Warnke, A; Lesch, K P; Reif, A; Hebebrand, J

    2013-11-01

    Bipolar disorder (BD) and attention deficit/hyperactivity disorder (ADHD) may share common genetic risk factors as indicated by the high co-morbidity of BD and ADHD, their phenotypic overlap especially in pediatric populations, the high heritability of both disorders, and the co-occurrence in families. We therefore examined whether known polygenic BD risk alleles are associated with ADHD. We chose the eight best SNPs of the recent genome-wide association study (GWAS) of BD patients of German ancestry and the nine SNPs from international GWAS meeting a 'genome-wide significance' level of α = 5 × 10(-8). A GWAS was performed in 495 ADHD children and 1,300 population-based controls using HumanHap550v3 and Human660 W-Quadv1 BeadArrays. We found no significant association of childhood ADHD with single BD risk alleles surviving adjustment for multiple testing. Yet, risk alleles for BD and ADHD were directionally consistent at eight of nine loci with the strongest support for three SNPs in or near NCAN, BRE, and LMAN2L. The polygene analysis for the BP risk alleles at all 14 loci indicated a higher probability of being a BD risk allele carrier in the ADHD cases as compared to the controls. At a moderate power to detect association with ADHD, if true effects were close to estimates from GWAS for BD, our results suggest that the possible contribution of BD risk variants to childhood ADHD risk is considerably lower than for BD. Yet, our findings should encourage researchers to search for common genetic risk factors in BD and childhood ADHD in future studies.

  12. Ethnic differences in allelic distribution of IFN-g in South African women but no link with cervical cancer

    Directory of Open Access Journals (Sweden)

    Govan Vandana A

    2003-05-01

    Full Text Available Abstract Background The failure of specific types of human papillomaviruses (HPV to raise effective immune responses may be important in the pathogenesis of cervical cancer, the second most common cancer in South African women. Polymorphisms of a number of cytokine genes have been implicated in inducing susceptibility or resistance to cancers caused by infectious agents owing to their role in determining host immune response. Polymorphisms of IL-10 and IFN-γ genes are believed to influence the expression and/or secretion levels of their respective cytokines. Methods and Results In this study, women with histologically proven cancer of the cervix (n = 458 and hospital-based controls (n = 587 were investigated for bi-allelic -1082 (A/G polymorphisms of IL-10 and the bi-allelic +874(A/T polymorphisms of IFN-γ. In addition, the distributions of the allelic frequencies were stratified in both the African and mixed race population groups of South Africa. We found striking differences in the allele distribution of IFN-γ (X2 = 0.02 among the two ethnic groups. A significant increase in the allele distribution of the IFN-γ AA genotype was found in the African group compared to the mixed population group (OR, 0.5; 95% CI, 0.2–1.0. For IL-10 there were no significant allelic differences between the two South African ethnic groups. Furthermore, when the ethnic groups were combined the IL-10 allelic frequencies in the combined South African data were similar to those observed in an Oriental population from Southern China and in an Italian population. However, the allele frequencies of the IFN-γ genotype among the two South African ethnic groups were different when compared to an Italian Caucasoid group. While crude analysis of these data showed both statistically significantly increased and diminished risks of cervical cancer among high producers of INF-γ and low producers of IL-10 respectively, these associations were no longer significant when the

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

    DEFF Research Database (Denmark)

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

    2002-01-01

    phenotypes of PMR/GCA. METHODS: MBL and HLA-DRB1 alleles were determined by polymerase chain reaction in 102 Danish patients with PMR (n = 37) or GCA (n = 65). Two hundred fifty and 193 healthy individuals served as controls for MBL and HLA genotyping, respectively. RESULTS: The prevalence of MBL variant...

  14. KIR2DL2/2DL3-E35 alleles are functionally stronger than -Q35 alleles

    Science.gov (United States)

    Bari, Rafijul; Thapa, Rajoo; Bao, Ju; Li, Ying; Zheng, Jie; Leung, Wing

    2016-03-01

    KIR2DL2 and KIR2DL3 segregate as alleles of a single locus in the centromeric motif of the killer cell immunoglobulin-like receptor (KIR) gene family. Although KIR2DL2/L3 polymorphism is known to be associated with many human diseases and is an important factor for donor selection in allogeneic hematopoietic stem cell transplantation, the molecular determinant of functional diversity among various alleles is unclear. In this study we found that KIR2DL2/L3 with glutamic acid at position 35 (E35) are functionally stronger than those with glutamine at the same position (Q35). Cytotoxicity assay showed that NK cells from HLA-C1 positive donors with KIR2DL2/L3-E35 could kill more target cells lacking their ligands than NK cells with the weaker -Q35 alleles, indicating better licensing of KIR2DL2/L3+ NK cells with the stronger alleles. Molecular modeling analysis reveals that the glutamic acid, which is negatively charged, interacts with positively charged histidine located at position 55, thereby stabilizing KIR2DL2/L3 dimer and reducing entropy loss when KIR2DL2/3 binds to HLA-C ligand. The results of this study will be important for future studies of KIR2DL2/L3-associated diseases as well as for donor selection in allogeneic stem cell transplantation.

  15. Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.

    Science.gov (United States)

    Polin, Helene; Pelc-Klopotowska, Monika; Danzer, Martin; Suessner, Susanne; Gabriel, Christian; Wilflingseder, Julia; Żmudzin, Alicja; Orzińska, Agnieszka; Guz, Katarzyna; Michalewska, Bogumila; Brojer, Ewa

    2016-04-01

    The Rhesus (Rh) complex consists of a core comprising the Rh proteins (RhD/RhCE) and the Rh-associated glycoprotein (RhAG) with accessory chains (GPB, LW, CD47). Molecular defects of the RHAG gene may cause a regulator Rhnull phenotype without Rh antigen expression or a Rhmod phenotype with decreased Rh antigen expression. Blood samples of a donor with strongly diminished Rh antigens and five family members were analyzed by serological phenotyping, flow cytometry, molecular testing, and gene expression analysis of Rh complex candidate genes. RHAG sequencing identified a missense mutation, c.241G>C (p.Gly81Arg) and a splice site mutation, c.640 + 3del14, among the cohort. Compound heterozygosity of these novel alleles identified in the propositus and two siblings gave rise to a strongly diminished expression of RhAG, Rh, and CD47 antigens on the RBC surface. The Rhmod phenotype was caused by a novel RHAG splice site mutation in association with a non-functional allele. The primary depression of RhAG is most likely due to posttranslational events that affect the interaction and processing of the RhAG glycoprotein and gave rise to a secondary depression of RhD, RhCE, and CD47, the major members of the Rh complex. © 2016 AABB.

  16. Tri-allelic pattern at the TPOX locus: a familial study.

    Science.gov (United States)

    Picanço, Juliane Bentes; Raimann, Paulo Eduardo; Paskulin, Giorgio Adriano; Alvarez, Luís; Amorim, António; Batista Dos Santos, Sidney Emanuel; Alho, Clarice Sampaio

    2014-02-10

    Alleles at the TPOX STR locus have 6-14 different numbers of a four-nucleotide (AATG) repeat motif arranged in tandem. Although tri-allelic genotypes are generally rare, the TPOX tri-allelic pattern has a higher frequency, varying widely among populations. Despite this, there are few accurate reports to disclose the nature of the TPOX third allele. In this work we present data obtained from 45 individuals belonging to the same pedigree, in which there are cases of tri-allelic TPOX genotypes. The subjects were apparently healthy with a normal biological development. We noticed six tri-allelic cases in this family, and all of them were women. Karyotype analysis showed no occurrence of partial 2p trisomy. All the tri-allelic cases had the genotype 8-10-11, probably due to three copies of the TPOX STR sequence in all cells (Type 2 tri-allelic pattern). Based on previous data we assumed the allele 10 as the TPOX third allele. The pedigree analyses show evidences that the TPOX extra-allele was the allele10, it is placed far from the main TPOX locus, and that there is a potential linkage of the TPOX extra-allele-10 with Xq. This was the first study that included a large pedigree analysis in order to understand the nature TPOX tri-allelic pattern. © 2013.

  17. Allelic Tests and Sequence Analysis of Three Genes for Resistance to Xanthomonas perforans Race T3 in Tomato

    Directory of Open Access Journals (Sweden)

    Zhao Baimei

    2015-07-01

    Full Text Available Three crosses, Hawaii7981 × PI128216, Hawaii7981 × LA1589, and PI128216 × LA1589, were made to develop F2 populations for testing allelism among three genes Xv3, Rx4, and RxLA1589 conferring resistance to bacterial spot caused by Xanthomonas perforans race T3 in tomato. Each population consisted of 535–1 655 individuals. An infiltration method was used to inoculate the leaves of the parental and F2 plants as well as the susceptible control OH88119 for detecting hypersensitive resistance (HR. The results showed that all the tomato plants except OH88119 had HR to race T3, indicating that Xv3, Rx4, and RxLA1589 were allelic genes. Genomic DNA fragments of the Rx4 alleles from Hawaii7981, PI128216, and LA1589 were amplified using gene-specific primers and sequenced. No sequence variation was observed in the coding region of Rx4 in the three resistant lines. Based on the published map positions of these loci as well as the allelic tests and sequence data obtained in this study, we speculated that Xv3, Rx4, and RxLA1589 were the same gene. The results will provide useful information for understanding the mechanism of resistance to race T3 and developing resistant tomato varieties.

  18. ss-siRNAs allele selectively inhibit ataxin-3 expression: multiple mechanisms for an alternative gene silencing strategy.

    Science.gov (United States)

    Liu, Jing; Yu, Dongbo; Aiba, Yuichiro; Pendergraff, Hannah; Swayze, Eric E; Lima, Walt F; Hu, Jiaxin; Prakash, Thazha P; Corey, David R

    2013-11-01

    Single-stranded silencing RNAs (ss-siRNAs) provide an alternative approach to gene silencing. ss-siRNAs combine the simplicity and favorable biodistribution of antisense oligonucleotides with robust silencing through RNA interference (RNAi). Previous studies reported potent and allele-selective inhibition of human huntingtin expression by ss-siRNAs that target the expanded CAG repeats within the mutant allele. Mutant ataxin-3, the genetic cause of Machado-Joseph Disease, also contains an expanded CAG repeat. We demonstrate here that ss-siRNAs are allele-selective inhibitors of ataxin-3 expression and then redesign ss-siRNAs to optimize their selectivity. We find that both RNAi-related and non-RNAi-related mechanisms affect gene expression by either blocking translation or affecting alternative splicing. These results have four broad implications: (i) ss-siRNAs will not always behave similarly to analogous RNA duplexes; (ii) the sequences surrounding CAG repeats affect allele-selectivity of anti-CAG oligonucleotides; (iii) ss-siRNAs can function through multiple mechanisms and; and (iv) it is possible to use chemical modification to optimize ss-siRNA properties and improve their potential for drug discovery.

  19. Acute exercise is associated with reduced exhaled nitric oxide in physically inactive adults with asthma.

    Science.gov (United States)

    Scott, Hayley A; Latham, Jennifer R; Callister, Robin; Pretto, Jeffrey J; Baines, Katherine; Saltos, Nick; Upham, John W; Wood, Lisa G

    2015-06-01

    Although exercise has multiple health benefits, relatively little attention has been paid to its potential therapeutic effects in those with asthma. To examine the effects of acute exercise on inflammation in physically inactive and active adults with asthma. Fourteen adults with asthma (n = 6 physically inactive, n = 8 physically active) completed (1) 30 minutes of moderate-intensity exercise on a treadmill and (2) 30 minutes of rest in random order, with 4 weeks between sessions. Exhaled nitric oxide (eNO) was measured before and after the intervention (0, 0.5, 1, 2, 4, and 24 hours). Blood inflammatory mediators were measured before and after the intervention (0, 2, and 24 hours). Physically inactive participants had a significant decrease in eNO 4 hours after exercise (-4.8 ppb, -6.4 to -0.5 ppb, P = .028), which was not observed in physically active participants (P = .362). Interluekin-1 receptor antagonist increased in the physically inactive group 2 hours after exercise, with this increase strongly correlated with the decrease in eNO at 4 hours (R = -0.685, P = .007) and 24 hours (R = -0.659, P = .014) after exercise. Interleukin-6 was increased significantly 2 hours after exercise in physically inactive participants. Blood neutrophils and nuclear factor erythroid 2-like 2 gene expression were increased 2 hours after exercise in the overall cohort. This study demonstrates that acute moderate-intensity exercise is associated with decreased eNO in physically inactive adults with asthma and suggests that interluekin-1 receptor antagonist could have a role in mediating this effect. The attenuated response in physically active participants might be due to the sustained anti-inflammatory effects of exercise training. Future studies should investigate the impact of exercise intensity and exercise training on airway inflammation in those with asthma. Australian New Zealand Clinical Trials Registry (http://www.anzctr.org.au), registration number ACTRN

  20. Homology modelling of frequent HLA class-II alleles: A perspective to improve prediction of HLA binding peptide and understand the HLA associated disease susceptibility.

    Science.gov (United States)

    Kashyap, Manju; Farooq, Umar; Jaiswal, Varun

    2016-10-01

    Human leukocyte antigen (HLA) plays significant role via the regulation of immune system and contribute in the progression and protection of many diseases. HLA molecules bind and present peptides to T- cell receptors which generate the immune response. HLA peptide interaction and molecular function of HLA molecule is the key to predict peptide binding and understanding its role in different diseases. The availability of accurate three dimensional (3D) structures is the initial step towards this direction. In the present work, homology modelling of important and frequent HLA-DRB1 alleles (07:01, 11:01 and 09:01) was done and acceptable models were generated. These modelled alleles were further refined and cross validated by using several methods including Ramachandran plot, Z-score, ERRAT analysis and root mean square deviation (RMSD) calculations. It is known that numbers of allelic variants are related to the susceptibility or protection of various infectious diseases. Difference in amino acid sequences and structures of alleles were also studied to understand the association of HLA with disease susceptibility and protection. Susceptible alleles showed more amino acid variations than protective alleles in three selected diseases caused by different pathogens. Amino acid variations at binding site were found to be more than other part of alleles. RMSD values were also higher at variable positions within binding site. Higher RMSD values indicate that mutations occurring at peptide binding site alter protein structure more than rest of the protein. Hence, these findings and modelled structures can be used to design HLA-DRB1 binding peptides to overcome low prediction accuracy of HLA class II binding peptides. Furthermore, it may help to understand the allele specific molecular mechanisms involved in susceptibility/resistance against pathogenic diseases. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Detection of complex alleles by direct analysis of DNA heteroduplexes.

    Science.gov (United States)

    Sorrentino, R; Iannicola, C; Costanzi, S; Chersi, A; Tosi, R

    1991-01-01

    DNA molecules derived from three alleles of the HLA-DRB3 locus and differing from each other at several nucleotide sites were denatured and cross-hybridized. Each allelic combination was found to generate a pair of heteroduplexes of different mobility. Their retardation as compared to homoduplexes was proportional to the number of mismatches. In each heteroduplexes pair the component possessing the highest number of Pyr-Pyr oppositions was the most retarded. The results are those predicted by a theoretical model implying a correlation between base-pair opening and bending of the DNA double helix. These observations introduce a new HLA typing method at the genomic level and indicate an experimental approach to the analysis of the superhelical DNA conformation as related to different types of base oppositions.

  2. The burden of abdominal obesity with physical inactivity on health expenditure in Brazil

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    Jamile S. Codogno

    2015-03-01

    Full Text Available The purpose of this study was to analyze the association between the clustering of physical inactivity with abdominal obesity and public health care expenditure in Brazilian adults. The sample was composed of 963 patients of both genders, randomly selected in the Brazilian Public Health care System during 2010. Entire health care expenditures during the last year were computed and stratified into: medical consultations, medication dispensing, laboratory tests and overall expenditure. Waist circumference was used to diagnose abdominal obesity and physical activity was assessed by previously validated questionnaire. Sedentary and abdominally obese patients (OR= 3.01 [OR95%CI= 1.81-4.99] had higher likelihood be inserted in the group of higher expenditures than only abdominally obese patients (OR= 1.66 [OR95%CI= 1.07-2.59]. There is a synergic effect between abdominal obesity and physical inactivity on overall health care expenditures.

  3. MAR elements regulate the probability of epigenetic switching between active and inactive gene expression.

    Science.gov (United States)

    Galbete, José Luis; Buceta, Montserrat; Mermod, Nicolas

    2009-02-01

    Gene expression often cycles between active and inactive states in eukaryotes, yielding variable or noisy gene expression in the short-term, while slow epigenetic changes may lead to silencing or variegated expression. Understanding how cells control these effects will be of paramount importance to construct biological systems with predictable behaviours. Here we find that a human matrix attachment region (MAR) genetic element controls the stability and heritability of gene expression in cell populations. Mathematical modeling indicated that the MAR controls the probability of long-term transitions between active and inactive expression, thus reducing silencing effects and increasing the reactivation of silent genes. Single-cell short-terms assays revealed persistent expression and reduced expression noise in MAR-driven genes, while stochastic burst of expression occurred without this genetic element. The MAR thus confers a more deterministic behavior to an otherwise stochastic process, providing a means towards more reliable expression of engineered genetic systems.

  4. Physical inactivity among college students is associated with living in hostels: a study from Delhi, India

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    Rahul Khera

    2012-01-01

    Full Text Available Physical inactivity figures as an important modifiable factor for non-communicable diseases. A standardized questionnaire was used to assess physical activity among college students in East Delhi region of Delhi, India. Of a total 297 students, 58.2% had high physical activity, 27.9% had moderate while 13.8% had low activity level. Low physical activity was significantly more among the students aged <20 years (p=0.002 and among those residing in hostel (p<0.001. There was no significant difference by gender (p=0.40. Residing in hostel emerged as significant factor in multivariate analysis. Hostellers had significantly lesser physical activity compared to the day scholars in the transport domain (p=0.048 and recreational domain (p<0.001. Hostel residents emerged as a specific at-risk group for physical inactivity.

  5. The effects of exergaming on physical activity among inactive children in a physical education classroom.

    Science.gov (United States)

    Fogel, Victoria A; Miltenberger, Raymond G; Graves, Rachel; Koehler, Shannon

    2010-01-01

    Childhood obesity, which is due in part to lack of physical activity, is a serious concern that requires the attention of the behavioral community. Although excessive video game play has been noted in the literature as a contributor to childhood obesity, newer video gaming technology, called exergaming, has been designed to capitalize on the reinforcing effects of video games to increase physical activity in children. This study evaluated the effects of exergaming on physical activity among 4 inactive children in a physical education (PE) classroom. Results showed that exergaming produced substantially more minutes of physical activity and more minutes of opportunity to engage in physical activity than did the standard PE program. In addition, exergaming was socially acceptable to both the students and the PE teacher. Exergaming appears to hold promise as a method for increasing physical activity among inactive children and might be a possible intervention for childhood obesity.

  6. Revegetation and rock cover for stabilization of inactive uranium mill tailings disposal sites. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Beedlow, P.A.

    1984-05-01

    Guidelines for using vegetation and rock to protect inactive uranium mill tailings from erosion were developed by Pacific Northwest Laboratory as part of the Department of Energy's Uranium Mill Tailings Remedial Action Project (UMTRAP) Technology Development program. Information on soils, climate, and vegetation were collected for 20 inactive tailings sites in the western United States. Sites were grouped according to similarities in climate and vegetation. Soil loss for those sites was characterized using the Universal Soil Loss Equation. Test plots were used to evaluate (1) the interaction between vegetation and sealant barrier systems and (2) the effects of surface rock on soil water and vegetation. Lysimeter and simulation studies were used to direct and support field experiments. 49 references, 17 figures, 16 tables.

  7. Dynamic characteristics of heat exchanger tubes vibrating in a tube support plate inactive mode

    International Nuclear Information System (INIS)

    Jendrzejczyk, J.A.

    1985-01-01

    Tubes in shell-and-tube heat exchangers, including nuclear plant steam generators, derive their support from longitudinally positioned tube support plates (TSPs). Typically there is a clearance between the tube and TSP hole. Depending on design and fabrication tolerances, the tube may or may not contact all of the TSPs. Noncontact results in an inactive TSP which can lead to detrimental flow induced tube vibrations under certain conditions dependent on the resulting tube-TSP interaction dynamics and the fluid excitation forces. The purpose of this study is to investigate the tube-TSP interaction dynamics. Results of an experimental study of damping and natural frequency as functions of tube-TSP diametral clearance and TSP thickness are reported. Calculated values of damping ratio and frequency of a tube vibrating within an inactive TSP are also presented together with a comparison of calculated and experimetnal quantities

  8. Revegetation and rock cover for stabilization of inactive uranium mill tailings disposal sites. Final report

    International Nuclear Information System (INIS)

    Beedlow, P.A.

    1984-05-01

    Guidelines for using vegetation and rock to protect inactive uranium mill tailings from erosion were developed by Pacific Northwest Laboratory as part of the Department of Energy's Uranium Mill Tailings Remedial Action Project (UMTRAP) Technology Development program. Information on soils, climate, and vegetation were collected for 20 inactive tailings sites in the western United States. Sites were grouped according to similarities in climate and vegetation. Soil loss for those sites was characterized using the Universal Soil Loss Equation. Test plots were used to evaluate (1) the interaction between vegetation and sealant barrier systems and (2) the effects of surface rock on soil water and vegetation. Lysimeter and simulation studies were used to direct and support field experiments. 49 references, 17 figures, 16 tables

  9. Determination of allele frequencies in nine short tandem repeat loci ...

    African Journals Online (AJOL)

    Determination of allele frequencies in nine short tandem repeat loci of five human sub-populations in Botswana. ... use in individual identification. ... Targeted regions of DNA (vWA, FGA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11 and the sex determining locus Amelogenin) were amplified using ...

  10. Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots

    Czech Academy of Sciences Publication Activity Database

    Baker, C.L.; Petkova, P.; Walker, M.; Flachs, Petr; Mihola, Ondřej; Trachtulec, Zdeněk; Petkov, P.M.; Paigen, K.

    2015-01-01

    Roč. 11, č. 9 (2015), e1005512-e1005512 ISSN 1553-7390 R&D Projects: GA ČR GAP305/10/1931; GA ČR(CZ) GA14-20728S; GA MŠk(CZ) ED1.1.00/02.0109 Institutional support: RVO:68378050 Keywords : recombination * PRDM9 * allelic competition Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 7.528, year: 2014

  11. ABO genotyping in leukemia patients reveals new ABO variant alleles

    OpenAIRE

    NOVARETTI, M. C. Z.; DOMINGUES, A. E.; MANHANI, R.; PINTO, E. M.; DORLHIAC-LLACER, P. E.; CHAMONE, D. A. F.

    2008-01-01

    The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. To date, more than 160 ABO alleles have been identified by molecular investigation. Almost all ABO genotyping studies have been performed in blood donors and families and for investigation of ABO subgroups detected serologically. The aim of the present study was to perform ABO genotyping in patients with leukemia. Blood samples were collected from 108 Brazilian patients with chronic...

  12. In vitro assessment of 24 CYP2D6 allelic isoforms on the metabolism of methadone.

    Science.gov (United States)

    Su, Ying; Zhan, Yun-Yun; Wang, Ben-Fu; Wang, Si-Cong; Dai, Da-Peng; Hu, Guo-Xin; Lin, Han; Lian, Qing-Quan; Cai, Jian-Ping

    2017-02-01

    CYP2D6 is an important member of the cytochrome P450 (CYP450) enzyme super family, with at least 100 CYP2D6 alleles being previously identified. Genetic polymorphisms of CYP2D6 significantly influence the efficacy and safety of some drugs, which might cause adverse effects and therapeutic failure. The aim of this study was to clarify the catalytic activities of 24 CYP2D6 alleles on the oxidative in vitro metabolism of methadone. Reactions were incubated with 50-2000  µM methadone for 30 min at 37 °C and terminated by cooling to -80 °C immediately. Methadone and the major metabolite EDDP were analyzed by an ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) system. Compared with wild-type CYP2D6*1, most variants showed significantly altered values in V max and intrinsic clearance (V max /K m ). Only three variants (CYP2D6*88, *91 and E215K) exhibited markedly increased intrinsic clearance values, and one variant CYP2D6*94 showed no significant difference. On the other hand, the kinetic parameters of two CYP2D6 variants (CYP2D6*92 and *96) could not be determined because they had no detectable enzyme activity, whereas 18 variants exhibited significantly decreased values. To sum up, this study demonstrated that more attention should be paid in clinical administration of methadone to individuals carrying these CYP2D6 alleles. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  13. Association and Validation of Yield-Favored Alleles in Chinese Cultivars of Common Wheat (Triticumaestivum L..

    Directory of Open Access Journals (Sweden)

    Jie Guo

    Full Text Available Common wheat is one of the most important crops in China, which is the largest producer in the world. A set of 230 cultivars was used to identify yield-related loci by association mapping. This set was tested for seven yield-related traits, viz. plant height (PH, spike length (SL, spikelet number per spike (SNPS, kernel number per spike (KNPS, thousand-kernel weight (TKW, kernel weight per spike (KWPS, and sterile spikelet number (SSN per plant in four environments. A total of 106 simple sequence repeat (SSR markers distributed on all 21 chromosomes were used to screen the set. Twenty-one and 19 of them were associated with KNPS and TKW, respectively. Association mapping detected 73 significant associations across 50 SSRs, and the phenotypic variation explained (R2 by the associations ranged from 1.54 to 23.93%. The associated loci were distributed on all chromosomes except 4A, 7A, and 7D. Significant and potentially new alleles were present on 8 chromosomes, namely 1A, 1D, 2A, 2D, 3D, 4B, 5B, and 6B. Further analysis showed that genetic effects of associated loci were greatly influenced by association panels, and the R2 of crucial loci were lower in modern cultivars than in the mini core collection, probably caused by strong selection in wheat breeding. In order to confirm the results of association analysis, yield-related favorable alleles Xgwm135-1A138, Xgwm337-1D186, Xgwm102-2D144, and Xgwm132-6B128 were evaluated in a double haploid (DH population derived from Hanxuan10 xLumai14.These favorable alleles that were validated in various populations might be valuable in breeding for high-yield.

  14. Screen time by different devices in adolescents: association with physical inactivity domains and eating habits.

    Science.gov (United States)

    Delfino, Leandro D; Dos Santos Silva, Diego A; Tebar, William R; Zanuto, Edner F; Codogno, Jamile S; Fernandes, Rômulo A; Christofaro, Diego G

    2018-03-01

    Sedentary behaviors in adolescents are associated with using screen devices, analyzed as the total daily time in television viewing, using the computer and video game. However, an independent and clustered analysis of devices allows greater understanding of associations with physical inactivity domains and eating habits in adolescents. Sample of adolescents aged 10-17 years (N.=1011) from public and private schools, randomly selected. The use of screen devices was measured by hours per week spent in each device: TV, computer, videogames and mobile phone/tablet. Physical inactivity domains (school, leisure and sports), eating habits (weekly food consumption frequency) and socioeconomic status were assessed by questionnaire. The prevalence of high use of mobile phone/tablet was 70% among adolescents, 63% showed high use of TV or computer and 24% reported high use of videogames. High use of videogames was greater among boys and high use of mobile phone/tablet was higher among girls. Significant associations of high use of TV (OR=1.43, 95% CI: 1.04-1.99), computer (OR=1.44, 95% CI: 1.03-2.02), videogames (OR=1.65, 95% CI: 1.13-2.69) and consumption of snacks were observed. High use of computer was associated with fried foods consumption (OR=1.32, 95% CI: 1.01-1.75) and physical inactivity (OR=1.41, 95% CI: 1.03-1.95). Mobile phone was associated with consumption of sweets (OR=1.33, 95% CI: 1.00-1.80). Cluster using screen devices showed associations with high consumption of snacks, fried foods and sweets, even after controlling for confounding variables. The high use of screen devices was associated with high consumption of snacks, fried foods, sweets and physical inactivity in adolescents.

  15. The use of periodization in exercise prescriptions for inactive adults: A systematic review

    Directory of Open Access Journals (Sweden)

    Kelley Strohacker

    2015-01-01

    Conclusions: Although it is premature to conclude that periodized exercise is superior to non-periodized exercise for improving health outcomes, periodization appears to be a feasible means of prescribing exercise to inactive adults within an intervention setting. Further research is necessary to understand the effectiveness of periodizing aerobic exercise, the psychological effects of periodization, and the feasibility of implementing flexible non-linear methods.

  16. Physical inactivity, TV-watching hours and body composition in children and adolescents.

    Science.gov (United States)

    Rivera, Ivan Romero; Silva, Maria Alayde Mendonça da; Silva, Renata D'Andrada Tenório Almeida; Oliveira, Bruno Almeida Viana de; Carvalho, Antonio Carlos Camargo

    2010-08-01

    Physical inactivity is a predisposing factor to the onset/worsening of other cardiovascular risk factors, particularly obesity. To determine physical activity level (PAL) and daily number of hours of TV (HTV) and the association and/or correlation of these variables with age, gender, economic class, public/private school, overweight and obesity in children and adolescents. Cross sectional study, school-based population, public and private education, primary and secondary education. The sample was calculated based on the minimum expected prevalence of several variables, including physical inactivity. Cluster sampling. structured questionnaire, including Physical Activity for Older Children Questionnaire (PAQ-C) measurements of weight, height, body mass index (BMI) and triceps skinfold (TSF). Chi-square, linear correlation. Among the 1,253 students, averaging 12.4 ± 2.9 years old, of which 549 were male, there was a prevalence of inactivity in 93.5%, more commonly found in female adolescents and there was no association between PAL and excess weight or body fat, soccer and dance were the most frequent activities in boys and girls, respectively; 60% of students did not have physical education classes. Average and median HTV were respectively 3.6 and 3 hours; there was a significant association between HTV and obesity and significant correlation between PAL and age (negative) and between BMI and TSF (positive). Physical inactivity is present in 93.5% of children and adolescents from Maceió. It is more commonly found among teenagers and females, with no association or correlation of this variable with excess weight or body fat; obesity was associated with ≥ 3 HTV.

  17. Radiation pathways and potential health impacts from inactive uranium mill tailings

    International Nuclear Information System (INIS)

    1978-07-01

    Radiation exposure pathways and potential health impacts were estimated as part of the evaluation of radioactive uranium mill tailings at the sites of inactive mills in eight western states. The purpose of this report is to describe in detail the methodology used in performing the pathway analysis and health effects estimations. In addition, specific parameters are presented for each of the 22 uranium mill sites that were evaluated. A computer program, RADAD, developed as part of this program, is described and listed

  18. LLAMA: nuclear stellar properties of Swift-BAT AGN and matched inactive galaxies

    Science.gov (United States)

    Lin, Ming-Yi; Davies, R. I.; Hicks, E. K. S.; Burtscher, L.; Contursi, A.; Genzel, R.; Koss, M.; Lutz, D.; Maciejewski, W.; Müller-Sánchez, F.; Orban de Xivry, G.; Ricci, C.; Riffel, R.; Riffel, R. A.; Rosario, D.; Schartmann, M.; Schnorr-Müller, A.; Shimizu, T.; Sternberg, A.; Sturm, E.; Storchi-Bergmann, T.; Tacconi, L.; Veilleux, S.

    2018-02-01

    In a complete sample of local 14-195 keV selected active galactic nuclei (AGNs) and inactive galaxies, matched by their host galaxy properties, we study the spatially resolved stellar kinematics and luminosity distributions at near-infrared wavelengths on scales of 10-150 pc, using SINFONI on the VLT. In this paper, we present the first half of the sample, which comprises 13 galaxies, eight AGNs and five inactive galaxies. The stellar velocity fields show a disc-like rotating pattern, for which the kinematic position angle is in agreement with the photometric position angle obtained from large scale images. For this set of galaxies, the stellar surface brightness of the inactive galaxy sample is generally comparable to the matched sample of AGN, but extends to lower surface brightness. After removal of the bulge contribution, we find a nuclear stellar light excess with an extended nuclear disc structure, which exhibits a size-luminosity relation. While we expect the excess luminosity to be associated with a dynamically cooler young stellar population, we do not typically see a matching drop in dispersion. This may be because these galaxies have pseudo-bulges in which the intrinsic dispersion increases towards the centre. And although the young stars may have an impact in the observed kinematics, their fraction is too small to dominate over the bulge and compensate the increase in dispersion at small radii, so no dispersion drop is seen. Finally, we find no evidence for a difference in the stellar kinematics and nuclear stellar luminosity excess between these active and inactive galaxies.

  19. Electrical stimulation of the abdomen preserves motor performance in the inactive elderly: a randomized controlled trial.

    Science.gov (United States)

    Miura, Misa; Seki, Kazunori; Ito, Osamu; Handa, Yasunobu; Kohzuki, Masahiro

    2012-10-01

    Abdominal muscle strength declines easily with the process of aging and/or disuse, and it is difficult to strengthen weak abdominal muscles in the inactive elderly. In the present study, we applied surface electrical stimulation (ES) to the abdomen of inactive elderly people to investigate its chronic effects. Twenty inactive elderly people (65-89 years) who spent most of the day in their bedroom participated in the study. The subjects were assigned to ES and non-ES groups in a random order. In addition to conventional physical therapy and occupational therapy, ES was applied to both sides of the flank of 10 subjects (ES group) for 8 weeks. For evaluation of the abdominal muscles, the cross-sectional area (CSA) was measured with computed tomography and the electrical muscle activity (iEMG) was measured by electromyography. Functional examinations were performed at 2, 4, and 8 weeks after the beginning of the study with the following parameters: grip strength; maximum walking speed (WS); movement time for sitting up (MSU); number of trunk flexions (NTF); flexibility of the trunk; sit-to-stand time (STS); and Barthel index (BI) score. In the ES group, the NTF and MSU were significantly improved at 4 weeks and thereafter. Furthermore, the STS and WS were also improved significantly after 8 weeks (p < 0.05). The CSA and iEMG both increased significantly (p < 0.05). However, the flexibility of the trunk and BI score did not change. In conclusion, ES to the abdomen has the potential to improve motor function in the inactive elderly.

  20. Arctic Ground Squirrels Limit Bone Loss during the Prolonged Physical Inactivity Associated with Hibernation.

    Science.gov (United States)

    Wojda, Samantha J; Gridley, Richard A; McGee-Lawrence, Meghan E; Drummer, Thomas D; Hess, Ann; Kohl, Franziska; Barnes, Brian M; Donahue, Seth W

    2016-01-01

    Prolonged disuse (e.g., physical inactivity) typically results in increased bone porosity, decreased mineral density, and decreased bone strength, leading to increased fracture risk in many mammals. However, bears, marmots, and two species of ground squirrels have been shown to preserve macrostructural bone properties and bone strength during long seasons of hibernation while they remain mostly inactive. Some small hibernators (e.g., 13-lined ground squirrels) show microstructural bone loss (i.e., osteocytic osteolysis) during hibernation, which is not seen in larger hibernators (e.g., bears and marmots). Arctic ground squirrels (Urocitellus parryii) are intermediate in size between 13-lined ground squirrels and marmots and are perhaps the most extreme rodent hibernator, hibernating for up to 8 mo annually with body temperatures below freezing. The goal of this study was to quantify the effects of hibernation and inactivity on cortical and trabecular bone properties in arctic ground squirrels. Cortical bone geometrical properties (i.e., thickness, cross-sectional area, and moment of inertia) at the midshaft of the femur were not different in animals sampled over the hibernation and active seasons. Femoral ultimate stress tended to be lower in hibernators than in summer animals, but toughness was not affected by hibernation. The area of osteocyte lacunae was not different between active and hibernating animals. There was an increase in osteocytic lacunar porosity in the hibernation group due to increased lacunar density. Trabecular bone volume fraction in the proximal tibia was unexpectedly greater in the hibernation group than in the active group. This study shows that, similar to other hibernators, arctic ground squirrels are able to preserve many bone properties during hibernation despite being physically inactive for up to 8 mo.

  1. HLA- DR Alleles in Pakistani Patients of Pemphigus Vulgaris.

    Science.gov (United States)

    Khan, Sara Waqar; Iftikhar, Nadia; Ahmed, Tahir Aziz; Bashir, Mukarram

    2015-04-01

    To determine frequency of HLA-DR alleles in Pakistani patients of pemphigus vulgaris in comparison with local healthy controls. Cross-sectional, comparative study. Department of Immunology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from January 2011 to January 2014. Twenty eight patients with biopsy proven diagnosis of pemphigus vulgaris referred from Department of Dermatology, Military Hospital, Rawalpindi were included. Patients were compared with a group of 150 unrelated local healthy subjects. DNA was extracted from peripheral blood collected in Tri-potassium EDTA. HLA-DRB1 typing was carried out on allele level (DRB1*01--DRB1*16) using SSP (sequence specific primers). HLA type was determined by agarose gel electrophoresis and results recorded. Phenotype frequency of various alleles among patient group and control group was calculated by direct counting and significance of their association was determined by Fisher's exact test/ Chi square test. A total of 12 male and 16 female patients, with age ranging from 21 to 34 (mean 23.4 years) were genotyped for HLA-DRB1 loci. A statistically significant association of the disease with HLA-DRB1*04 was observed (50% versus 20.7% in controls, p pemphigus vulgaris in Pakistani population.

  2. HLA- DR Alleles in Pakistani Patients of Pemphigus Vulgaris

    International Nuclear Information System (INIS)

    Khan, S. W.; Ahmad, T. A.; Bashir, M.; Iftikhar, N.

    2015-01-01

    Objective: To determine frequency of HLA-DR alleles in Pakistani patients of pemphigus vulgaris in comparison with local healthy controls. Study Design: Cross-sectional, comparative study. Place and Duration of Study: Department of Immunology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from January 2011 to January 2014. Methodology: Twenty eight patients with biopsy proven diagnosis of pemphigus vulgaris referred from Department of Dermatology, Military Hospital, Rawalpindi were included. Patients were compared with a group of 150 unrelated local healthy subjects. DNA was extracted from peripheral blood collected in Tri-potassium EDTA. HLA-DRB1 typing was carried out on allele level (DRB1*01 - DRB1*16) using SSP (sequence specific primers). HLA type was determined by agarose gel electrophoresis and results recorded. Phenotype frequency of various alleles among patient group and control group was calculated by direct counting and significance of their association was determined by Fisher's exact test/ Chi square test. Results: A total of 12 male and 16 female patients, with age ranging from 21 to 34 (mean 23.4 years) were genotype for HLA-DRB1 loci. A statistically significant association of the disease with HLA-DRB1*04 was observed (50% versus 20.7% in controls, p < 0.05). Conclusion: There is a strong association of HLA-DRB1*04 with pemphigus vulgaris in Pakistani population. (author)

  3. The protease inhibitor PI*S allele and COPD

    DEFF Research Database (Denmark)

    Hersh, C P; Ly, N P; Berkey, C S

    2005-01-01

    In many countries, the protease inhibitor (SERPINA1) PI*S allele is more common than PI*Z, the allele responsible for most cases of chronic obstructive pulmonary disease (COPD) due to severe alpha 1-antitrypsin deficiency. However, the risk of COPD due to the PI*S allele is not clear. The current...... authors located studies that addressed the risk of COPD or measured lung function in individuals with the PI SZ, PI MS and PI SS genotypes. A separate meta-analysis for each genotype was performed. Aggregating data from six studies, the odds ratio (OR) for COPD in PI SZ compound heterozygotes compared...... with PI MM (normal) individuals was significantly increased at 3.26 (95% confidence intervals (CI): 1.24-8.57). In 17 cross-sectional and case-control studies, the OR for COPD in PI MS heterozygotes was 1.19 (95%CI: 1.02-1.38). However, PI MS genotype was not associated with COPD risk after correcting...

  4. A WIDE DISTRIBUTION OF A NEW VRN-B1c ALLELE OF WHEAT TRITICUM AESTIVUM L. IN RUSSIA, UKRAINE AND ADJACENT REGIONS: A LINK WITH THE HEADING TIME AND ADAPTIVE POTENTIAL

    Directory of Open Access Journals (Sweden)

    Shcherban A.

    2012-08-01

    Full Text Available The adaptation of common wheat (T. aestivum L. to diverse environmental conditions is greatly under the control of genes involved in determination of vernalization response (Vrn-1 genes. It was found that the variation in common wheat heading time is affected not only by combination of Vrn-1 homoeoalleles but also by multiple alleles at a separate Vrn-1 locus. Previously, we described the Vrn-B1c allele from T.aestivum cv. 'Saratovskaya 29' and found significant differences in the structure of the first (1st intron of this allele when compared to another highly abundant Vrn-B1a allele, specifically, the deletion of 0.8 kb coupled with the duplication of 0.4 kb. We suggested that the changes in the intron 1 of Vrn-B1c allele caused earlier ear emergence in the near-isogenic line and cultivars, carrying this allele. In this study we investigate the distribution of the Vrn-B1c allele in a wide set of spring wheat cultivars from Russia, Ukraine and adjacent regions. The analysis revealed that 40% of Russian and 53% of Ukranian spring wheat cultivars contain the Vrn-B1c allele. The high distribution of the Vrn-B1c allele can be explained by a frequent using of 'Saratovskaya 29' in the breeding process inside the studied area. From the other hand, the predominance of the Vrn-B1c allele among cultivars cultivated in West Siberia and Kazakhstan may be due to the selective advantage of this allele for the region where there is a high risk of early fall frosts.

  5. The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study

    Directory of Open Access Journals (Sweden)

    Barberá Víctor-Manuel

    2009-06-01

    Full Text Available Abstract Background TGF-β receptor type I is a mediator of growth inhibitory signals. TGFBR1*6A (rs11466445 is a common polymorphic variant of the TGF-β receptor I gene and has been associated with tumour susceptibility. Nevertheless, the role of this polymorphism as a risk factor for colorectal cancer is controversial. The aim of this study was to assess the association between TGFBR1*6A and colorectal cancer, age, sex, tumour location and tumour stage in a Spanish population. Methods The case-control study involved 800 Spanish subjects: 400 sporadic colorectal cancer patients and 400 age-, sex-, and ethnic-matched controls. The odds ratio (OR and 95% confidence interval (95% CI for the TGFBR1*6A polymorphism were calculated using unconditional logistic regression adjusted for age and sex. Analysis of somatic mutations at the GCG repeat of TGFBR1 exon 1 and germline allele-specific expression were also conducted to obtain further information on the contribution of the TGFBR1*6A allele to CRC susceptibility. Results There was no statistically significant association between the TGFBR1*6A allele and CRC (p > 0.05. The OR was 1.147 (95% CI: 0.799–1.647 for carriers of the TGFBR1*6A allele and 0.878 (95% CI: 0.306–2.520 for homozygous TGFBR1*6A individuals compared with the reference. The frequency of the polymorphism was not affected by age, sex or tumour stage. The TGFBR1*6A allele was more prevalent among colon tumour patients than among rectal tumour patients. Tumour somatic mutations were found in only two of 69 cases (2.9%. Both cases involved a GCG deletion that changed genotype 9A/9A in normal DNA to genotype 9A/8A. Interestingly, these two tumours were positive for microsatellite instability, suggesting that these mutations originated because of a deficient DNA mismatch repair system. Allele-specific expression of the 9A allele was detected in seven of the 14 heterozygous 9A/6A tumour cases. This could have been caused by linkage

  6. The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study

    International Nuclear Information System (INIS)

    Castillejo, Adela; Guillén-Ponce, Carmen; Carrato, Alfredo; Soto, José-Luís; Mata-Balaguer, Trinidad; Montenegro, Paola; Ochoa, Enrique; Lázaro, Rafael; Martínez-Cantó, Ana; Castillejo, María-Isabel; Guarinos, Carla; Barberá, Víctor-Manuel

    2009-01-01

    TGF-β receptor type I is a mediator of growth inhibitory signals. TGFBR1*6A (rs11466445) is a common polymorphic variant of the TGF-β receptor I gene and has been associated with tumour susceptibility. Nevertheless, the role of this polymorphism as a risk factor for colorectal cancer is controversial. The aim of this study was to assess the association between TGFBR1*6A and colorectal cancer, age, sex, tumour location and tumour stage in a Spanish population. The case-control study involved 800 Spanish subjects: 400 sporadic colorectal cancer patients and 400 age-, sex-, and ethnic-matched controls. The odds ratio (OR) and 95% confidence interval (95% CI) for the TGFBR1*6A polymorphism were calculated using unconditional logistic regression adjusted for age and sex. Analysis of somatic mutations at the GCG repeat of TGFBR1 exon 1 and germline allele-specific expression were also conducted to obtain further information on the contribution of the TGFBR1*6A allele to CRC susceptibility. There was no statistically significant association between the TGFBR1*6A allele and CRC (p > 0.05). The OR was 1.147 (95% CI: 0.799–1.647) for carriers of the TGFBR1*6A allele and 0.878 (95% CI: 0.306–2.520) for homozygous TGFBR1*6A individuals compared with the reference. The frequency of the polymorphism was not affected by age, sex or tumour stage. The TGFBR1*6A allele was more prevalent among colon tumour patients than among rectal tumour patients. Tumour somatic mutations were found in only two of 69 cases (2.9%). Both cases involved a GCG deletion that changed genotype 9A/9A in normal DNA to genotype 9A/8A. Interestingly, these two tumours were positive for microsatellite instability, suggesting that these mutations originated because of a deficient DNA mismatch repair system. Allele-specific expression of the 9A allele was detected in seven of the 14 heterozygous 9A/6A tumour cases. This could have been caused by linkage disequilibrium of the TGFBR1*6A allele with

  7. Antimicrobial and conformational studies of the active and inactive analogues of the protegrin-1 peptide.

    Science.gov (United States)

    Rodziewicz-Motowidło, Sylwia; Mickiewicz, Beata; Greber, Katarzyna; Sikorska, Emilia; Szultka, Lukasz; Kamysz, Elzbieta; Kamysz, Wojciech

    2010-02-01

    The natural antimicrobial cationic peptide protegrin-1 displays a broad spectrum of antimicrobial activity and rapidly kills pathogens by interacting with their cell membrane. We investigated the structure-activity relationships of three protegrin-1 analogues: IB-367 (RGGLCYCRGRFCVCVGR-NH(2)), BM-1 (RGLCYCRGRFCVCVG-NH(2)) and BM-2 (RGLCYRPRFVCVG-NH(2)). Our antimicrobial and antifungal activity studies of these peptides showed that BM-1 was much more active than IB-367 against Gram-positive bacteria and fungi, whereas BM-2 was inactive. The BM-1 peptide showed fourfold reduced haemolysis relative to IB-367, an additional advantage of this peptide. In addition, BM-1 was about 15% cheaper than IB-367 to synthesize. The absence of two cysteine residues in the BM-2 sequence could be the main reason for its unstable conformation and antimicrobial inactivity. The solution structures of these peptides were determined in dimethyl sulphoxide using two-dimensional NMR and restrained molecular dynamics calculations. IB-367 and BM-1 formed short, antiparallel, beta-hairpin structures connected by a type II' beta-turn. The shorter, inactive BM-2 analogue exhibited major and minor conformations (predominantly unordered) in the NMR spectra and was much more flexible.

  8. Inactive and active states and supramolecular organization of GPCRs: insights from computational modeling

    Science.gov (United States)

    Fanelli, Francesca; De Benedetti, Pier G.

    2006-08-01

    Herein we make an overview of the results of our computational experiments aimed at gaining insight into the molecular mechanisms of GPCR functioning either in their normal conditions or when hit by gain-of-function or loss-of-function mutations. Molecular simulations of a number of GPCRs in their wild type and mutated as well as free and ligand-bound forms were instrumental in inferring the structural features, which differentiate the mutation- and ligand-induced active from the inactive states. These features essentially reside in the interaction pattern of the E/DRY arginine and in the degree of solvent exposure of selected cytosolic domains. Indeed, the active states differ from the inactive ones in the weakening of the interactions made by the highly conserved arginine and in the increase in solvent accessibility of the cytosolic interface between helices 3 and 6. Where possible, the structural hallmarks of the active and inactive receptor states are translated into molecular descriptors useful for in silico functional screening of novel receptor mutants or ligands. Computational modeling of the supramolecular organization of GPCRs and their intracellular partners is the current challenge toward a deep understanding of their functioning mechanisms.

  9. A mononuclear non-heme manganese(IV)-oxo complex binding redox-inactive metal ions.

    Science.gov (United States)

    Chen, Junying; Lee, Yong-Min; Davis, Katherine M; Wu, Xiujuan; Seo, Mi Sook; Cho, Kyung-Bin; Yoon, Heejung; Park, Young Jun; Fukuzumi, Shunichi; Pushkar, Yulia N; Nam, Wonwoo

    2013-05-01

    Redox-inactive metal ions play pivotal roles in regulating the reactivities of high-valent metal-oxo species in a variety of enzymatic and chemical reactions. A mononuclear non-heme Mn(IV)-oxo complex bearing a pentadentate N5 ligand has been synthesized and used in the synthesis of a Mn(IV)-oxo complex binding scandium ions. The Mn(IV)-oxo complexes were characterized with various spectroscopic methods. The reactivities of the Mn(IV)-oxo complex are markedly influenced by binding of Sc(3+) ions in oxidation reactions, such as a ~2200-fold increase in the rate of oxidation of thioanisole (i.e., oxygen atom transfer) but a ~180-fold decrease in the rate of C-H bond activation of 1,4-cyclohexadiene (i.e., hydrogen atom transfer). The present results provide the first example of a non-heme Mn(IV)-oxo complex binding redox-inactive metal ions that shows a contrasting effect of the redox-inactive metal ions on the reactivities of metal-oxo species in the oxygen atom transfer and hydrogen atom transfer reactions.

  10. CHANGES IN MENTAL HEALTH AND SATISFACTION WITH LIFE DURING PHYSICAL INACTIVITY INDUCED BY BED REST EXPERIMENT

    Directory of Open Access Journals (Sweden)

    Tjaša Dimec Časar

    2016-01-01

    Full Text Available Simulated weightlessness by bed rest model represents an important method to study the consequences of physical inactivity and sedentarism on the human body. The purpose of the study was to examine the effects of prolonged physical inactivity on psychological distress, depressive symptoms and satisfaction with life of healthy male adults. Participants were ten volunteers, aged between 21 and 28 years who were subjected to a 35-day head-down bed rest. Psychological state of the participants was measured with the General Health Questionnaire (GHQ-12, the Center for Epidemiological Studies Depression Scale (CES-D, and the Satisfaction with Life Scale (SWLS. Participants completed psychological inventories before, during and after the experiment. The results revealed no significant differences in mental health and satisfaction with life of participants following the head-down bed rest, however there was a tendency towards an increase in neurotic and depressive symptoms at the end of the experiment. The obtained results are interpreted in the light of stimulative living conditions in which the experiment was carried out, as well as the amount and quality of social interactions during the period of extended physical inactivity.

  11. Development of closure criteria for inactive radioactive waste-disposal sites at Oak Ridge National Laboratory

    International Nuclear Information System (INIS)

    Kocher, D.C.

    1990-01-01

    The Comprehensive Environmental Response, Compensation, and Liability Act (CERCLA) specifies that the U.S. Department of Energy shall comply with the procedural and substantive requirements of CERCLA regarding cleanup of inactive waste-disposal sites. Remedial actions require a level of control for hazardous substances that at least attains legally applicable or relevant and appropriate requirements (ARAR). This requirement may be waived if compliance with ARAR results in greater risk to human health and the environment than alternatives or is technically impractical. It will review potential ARAR for cleanup of inactive radioactive waste-disposal sites and propose a set of closure criteria for such sites at Oak Ridge National Laboratory. Important potential ARAR include federal standards for radiation protection of the public, radioactivity in drinking water, and near-surface land disposal of radioactive wastes. Proposed criteria for cleanup of inactive radioactive waste-disposal sites are: (1) a limit of 0.25 mSv on annual effective dose equivalent for offsite individuals; (2) limits of 1 mSv for continuous exposures and 5 mSv for occasional exposures on annual effective dose equivalent for inadvertent intruders, following loss of institutional controls over disposal sites; and (3) limits on concentrations of radionuclides in potable ground and surface waters in accordance with federal drinking-water standards, to the extent reasonably achievable

  12. Development of closure criteria for inactive radioactive waste disposal sites at Oak Ridge National Laboratory

    International Nuclear Information System (INIS)

    Kocher, D.C.

    1989-01-01

    The Comprehensive Environmental Response, Compensation, and Liability Act (CERCLA), as amended, specifies that cleanup of inactive waste disposal sites at Department of Energy (DOE) facilities shall at least attain legally applicable or relevant and appropriate requirements (ARARs) for cleanup or control of environmental contamination. This paper discusses potential ARARs for cleanup of inactive radioactive waste disposal sites and proposes a set of closure criteria for such sites at Oak Ridge National Laboratory (ORNL). The most important potential ARARs include Federal standards for radiation protection of the public, radioactivity in drinking water, and near-surface land disposal of radioactive wastes. On the basis of these standards, we propose that cleanup and closure of inactive radioactive waste disposal sites at ORNL shall achieve (1) limits on annual effective dose equivalent for off-site individuals and inadvertent intruders that conform to the DOE's performance objectives for new low-level waste disposal facilities and (2) to the extent reasonably achievable, limits on radionuclide concentrations in ground water and surface waters in accordance with Federal drinking water standards and ground-water protection requirements

  13. Childhood and contemporaneous correlates of adolescent leisure time physical inactivity: a longitudinal study.

    Science.gov (United States)

    Richards, Rosalina; Poulton, Richie; Reeder, Anthony I; Williams, Sheila

    2009-03-01

    Although concurrent influences on adolescent physical activity are well documented, longitudinal studies offer additional insights about early life antecedents of participation. The aim of this study was to examine associations between childhood and contemporaneous factors and patterns of physical activity participation during adolescence. Physical activity participation at ages 15 and 18 was assessed among members of the Dunedin Multidisciplinary Health and Development Study cohort using the interview-based Minnesota Leisure Time Physical Activity Questionnaire. Logistic regression was used to examine associations between childhood factors (socioeconomic status, family "active-recreation" orientation, home activities, motor ability, intelligence, and psychiatric disorder), contemporaneous factors (parental health, body mass index, predicted VO(2 max), general health, television viewing, smoking, and alcohol use) and "persistent inactivity," "declining participation," or "persistent activity" during adolescence. In multivariate models, persistent inactivity during adolescence was associated with lower childhood family active-recreation orientation, and poorer cardiorespiratory fitness and general health during adolescence. Declining participation was more likely among those who reported fewer activities at home during childhood. Persistent activity was associated with better cardiorespiratory fitness and watching less television during adolescence. This study found that childhood and contemporaneous factors were associated with persistent inactivity, persistent activity and declining participation during adolescence. The findings highlight several factors from the family and home environment of potential importance in early intervention programs to support adolescent participation in physical activity.

  14. A Mononuclear Non-Heme Manganese(IV)-Oxo Complex Binding Redox-Inactive Metal Ions

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Junying; Lee, Yong-Min; Davis, Katherine M.; Wu, Xiujuan; Seo, Mi Sook; Cho, Kyung-Bin; Yoon, Heejung; Park, Young Jun; Fukuzumi, Shunichi; Pushkar, Yulia N.; Nam, Wonwoo [Ewha; (Purdue); (Osaka)

    2013-05-29

    Redox-inactive metal ions play pivotal roles in regulating the reactivities of high-valent metal–oxo species in a variety of enzymatic and chemical reactions. A mononuclear non-heme Mn(IV)–oxo complex bearing a pentadentate N5 ligand has been synthesized and used in the synthesis of a Mn(IV)–oxo complex binding scandium ions. The Mn(IV)–oxo complexes were characterized with various spectroscopic methods. The reactivities of the Mn(IV)–oxo complex are markedly influenced by binding of Sc3+ ions in oxidation reactions, such as a ~2200-fold increase in the rate of oxidation of thioanisole (i.e., oxygen atom transfer) but a ~180-fold decrease in the rate of C–H bond activation of 1,4-cyclohexadiene (i.e., hydrogen atom transfer). The present results provide the first example of a non-heme Mn(IV)–oxo complex binding redox-inactive metal ions that shows a contrasting effect of the redox-inactive metal ions on the reactivities of metal–oxo species in the oxygen atom transfer and hydrogen atom transfer reactions.

  15. Job strain as a risk factor for leisure-time physical inactivity

    DEFF Research Database (Denmark)

    Fransson, Eleonor I; Heikkilä, Katriina; Nyberg, Solja T

    2012-01-01

    Unfavorable work characteristics, such as low job control and too high or too low job demands, have been suggested to increase the likelihood of physical inactivity during leisure time, but this has not been verified in large-scale studies. The authors combined individual-level data from 14 Europ...... interval: 1.11, 1.32) and passive (odds ratio = 1.20, 95% confidence interval: 1.11, 1.30) jobs at baseline. These data suggest that unfavorable work characteristics may have a spillover effect on leisure-time physical activity.......Unfavorable work characteristics, such as low job control and too high or too low job demands, have been suggested to increase the likelihood of physical inactivity during leisure time, but this has not been verified in large-scale studies. The authors combined individual-level data from 14...... European cohort studies (baseline years from 1985-1988 to 2006-2008) to examine the association between unfavorable work characteristics and leisure-time physical inactivity in a total of 170,162 employees (50% women; mean age, 43.5 years). Of these employees, 56,735 were reexamined after 2-9 years...

  16. Leisure-time physical inactivity and psychological distress in female-dominated occupations in Lithuania.

    Science.gov (United States)

    Malinauskiene, Vilija; Malinauskas, Romualdas; Malinauskas, Mindaugas

    2017-12-27

    Poor mental health, manifesting as psychological distress, has become a leading problem recently; therefore, determining associated factors is important, especially in female-dominated occupations, as women are more prone to psychological distress than men, in part due to demands of both professional and domestic tasks. The objective of the present study was to investigate associations between leisure-time physical inactivity and psychological distress, accounting for the possible relation of psychosocial factors at work (job demands, job control, social support at work, workplace bullying) and life events in representative samples of family physicians, internal medicine department nurses and secondary-school teachers in Lithuania. In total, 323 family physicians, 748 internal medicine department nurses and 517 secondary-school teachers were interviewed during 2012-2014 in Lithuania. Godin leisure-time exercise, Goldberg General Health, Job content, and Negative acts questionnaires were administered. Logistic regression was used. A high proportion of family physicians, nurses and teachers were physically inactive during leisure. Leisure-time physical inactivity was strongly associated with psychological distress, adjusting for age, workplace bullying, job demands, job control, social support at work and traumatic life events in all three female-dominated occupations. Efforts to increase leisure-time physical activity level in medical occupations could be beneficial.

  17. Inactive vaccine derived from velogenic strain of local Newcastle disease virus .

    Directory of Open Access Journals (Sweden)

    Darminto

    1996-03-01

    Full Text Available The objective of this research is to evaluate an application of an inactive Newcastle disease (ND vaccine derived from velogenic strain of local Newcastle disease virus (NDV. In this research . the Ira strain of velogenic ND virus was grown in specific pathogen free (SPF eggs and then was inactivated by formalin at a final concentration of 1 :1,000 at 4°C. The inactive antigen was then emulsified with an oil adjuvant or aluminium hydroxide gel before being administered for vaccination in layers and compared to a commercial inactive ND vaccine . Results indicated that application of these inactivated ND vaccines for booster vaccination following vaccination with an active lentogenic ND virus in pullets nearly producing eggs, resulted in high antibody titre which persisted for considerable long period of time and capable of protecting layers from sick of ND and from reducing egg production . Hence, it could be concluded that the inactivated vaccine emulsified in either oil-adjuvant (lanolin-paraffin or aluminium hydroxide gel were considered to be highly immunogenic and capable of protecting layers from sick of ND and from reducing egg production

  18. Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci

    Directory of Open Access Journals (Sweden)

    Houlston Richard S

    2011-02-01

    Full Text Available Abstract Background Common single-nucleotide polymorphisms (SNPs in ten chromosomal loci have been shown to predispose to colorectal cancer (CRC in genome-wide association studies. A plausible biological mechanism of CRC susceptibility associated with genetic variation has so far only been proposed for three loci, each pointing to variants that affect gene expression through distant regulatory elements. In this study, we aimed to gain insight into the molecular basis of seven low-penetrance CRC loci tagged by rs4779584 at 15q13, rs10795668 at 10p14, rs3802842 at 11q23, rs4444235 at 14q22, rs9929218 at 16q22, rs10411210 at 19q13, and rs961253 at 20p12. Methods Possible somatic gain of the risk allele or loss of the protective allele was studied by analyzing allelic imbalance in tumour and corresponding normal tissue samples of heterozygous patients. Functional variants were searched from in silico predicted enhancer elements locating inside the CRC-associating linkage-disequilibrium regions. Results No allelic imbalance targeting the SNPs was observed at any of the seven loci. Altogether, 12 SNPs that were predicted to disrupt potential transcription factor binding sequences were genotyped in the same population-based case-control series as the seven tagging SNPs originally. None showed association with CRC. Conclusions The results of the allelic imbalance analysis suggest that the seven CRC risk variants are not somatically selected for in the neoplastic progression. The bioinformatic approach was unable to pinpoint cancer-causing variants at any of the seven loci. While it is possible that many of the predisposition loci for CRC are involved in control of gene expression by targeting transcription factor binding sites, also other possibilities, such as regulatory RNAs, should be considered.

  19. Patterns and Determinants of Physical Inactivity in Rural and Urban Areas in Peru: A Population-Based Study.

    Science.gov (United States)

    Miranda, J Jaime; Carrillo-Larco, Rodrigo M; Gilman, Robert H; Avilez, Jose L; Smeeth, Liam; Checkley, William; Bernabe-Ortiz, Antonio

    2016-06-01

    Physical inactivity and sedentary behaviors have been linked with impaired health outcomes. Establishing the physical inactivity profiles of a given population is needed to establish program targets and to contribute to international monitoring efforts. We report the prevalence of, and explore sociodemographical and built environment factors associated with physical inactivity in 4 resource-limited settings in Peru: rural Puno, urban Puno, Pampas de San Juan de Miraflores (urban), and Tumbes (semiurban). Cross-sectional analysis of the CRONICAS Cohort Study's baseline assessment. Outcomes of interest were physical inactivity of leisure time (transport-related physical activity (not reporting walking or cycling trips) domains of the IPAQ, as well as watching TV, as a proxy of sedentarism (≥2 hours per day). Exposures included demographic factors and perceptions about neighborhood's safety. Associations were explored using Poisson regression models with robust standard errors. Prevalence ratios (PR) and 95% confidence intervals (95% CI) are presented. Data from 3593 individuals were included: 48.5% males, mean age 55.1 (SD: 12.7) years. Physical inactivity was present at rates of 93.7% (95% CI 93.0%-94.5%) and 9.3% (95% CI 8.3%-10.2%) within the leisure time and transport domains, respectively. In addition, 41.7% (95% CI 40.1%-43.3%) of participants reported watching TV for more than 2 hours per day. Rates varied according to study settings (P urban Lima. The pattern was different for transport-related physical inactivity: both Puno sites had around 75% to 50% lower prevalence of physical inactivity. Too much traffic was associated with higher levels of transport-related physical inactivity (PR = 1.24; 95% CI 1.01-1.54). Our study showed high levels of inactivity and marked contrasting patterns by rural/urban sites. These findings highlight the need to generate synergies to expand nationwide physical activity surveillance systems.

  20. Novel method for analysis of allele specific expression in triploid Oryzias latipes reveals consistent pattern of allele exclusion.

    Directory of Open Access Journals (Sweden)

    Tzintzuni I Garcia

    Full Text Available Assessing allele-specific gene expression (ASE on a large scale continues to be a technically challenging problem. Certain biological phenomena, such as X chromosome inactivation and parental imprinting, affect ASE most drastically by completely shutting down the expression of a whole set of alleles. Other more subtle effects on ASE are likely to be much more complex and dependent on the genetic environment and are perhaps more important to understand since they may be responsible for a significant amount of biological diversity. Tools to assess ASE in a diploid biological system are becoming more reliable. Non-diploid systems are, however, not uncommon. In humans full or partial polyploid states are regularly found in both healthy (meiotic cells, polynucleated cell types and diseased tissues (trisomies, non-disjunction events, cancerous tissues. In this work we have studied ASE in the medaka fish model system. We have developed a method for determining ASE in polyploid organisms from RNAseq data and we have implemented this method in a software tool set. As a biological model system we have used nuclear transplantation to experimentally produce artificial triploid medaka composed of three different haplomes. We measured ASE in RNA isolated from the livers of two adult, triploid medaka fish that showed a high degree of similarity. The majority of genes examined (82% shared expression more or less evenly among the three alleles in both triploids. The rest of the genes (18% displayed a wide range of ASE levels. Interestingly the majority of genes (78% displayed generally consistent ASE levels in both triploid individuals. A large contingent of these genes had the same allele entirely suppressed in both triploids. When viewed in a chromosomal context, it is revealed that these genes are from large sections of 4 chromosomes and may be indicative of some broad scale suppression of gene expression.

  1. Preferential binding of allosteric modulators to active and inactive conformational states of metabotropic glutamate receptors

    Directory of Open Access Journals (Sweden)

    Klein-Seetharaman Judith

    2008-02-01

    Full Text Available Abstract Metabotropic glutamate receptors (mGluRs are G protein coupled receptors that play important roles in synaptic plasticity and other neuro-physiological and pathological processes. Allosteric mGluR ligands are particularly promising drug targets because of their modulatory effects – enhancing or suppressing the response of mGluRs to glutamate. The mechanism by which this modulation occurs is not known. Here, we propose the hypothesis that positive and negative modulators will differentially stabilize the active and inactive conformations of the receptors, respectively. To test this hypothesis, we have generated computational models of the transmembrane regions of different mGluR subtypes in two different conformations. The inactive conformation was modeled using the crystal structure of the inactive, dark state of rhodopsin as template and the active conformation was created based on a recent model of the light-activated state of rhodopsin. Ligands for which the nature of their allosteric effects on mGluRs is experimentally known were docked to the modeled mGluR structures using ArgusLab and Autodock softwares. We find that the allosteric ligand binding pockets of mGluRs are overlapping with the retinal binding pocket of rhodopsin, and that ligands have strong preferences for the active and inactive states depending on their modulatory nature. In 8 out of 14 cases (57%, the negative modulators bound the inactive conformations with significant preference using both docking programs, and 6 out of 9 cases (67%, the positive modulators bound the active conformations. Considering results by the individual programs only, even higher correlations were observed: 12/14 (86% and 8/9 (89% for ArgusLab and 10/14 (71% and 7/9 (78% for AutoDock. These findings strongly support the hypothesis that mGluR allosteric modulation occurs via stabilization of different conformations analogous to those identified in rhodopsin where they are induced by

  2. The prevalence and correlates of physical inactivity among adults in Ho Chi Minh City

    Directory of Open Access Journals (Sweden)

    Phongsavan Philayrath

    2008-06-01

    Full Text Available Abstract Background Socioeconomic changes have led to profound changes in individuals' lifestyles, including the adoption of unhealthy food consumption patterns, prevalent tobacco use, alcohol abuse and physical inactivity, especially in large cities like Ho Chi Minh City (HCMC. The Stepwise Approach to Surveillance of Non-communicable Disease Risk Factors survey was conducted to identify physical activity patterns and factors associated with 'insufficient' levels of physical activity for health in adults in HCMC. Methods A cross-sectional survey was conducted in 2005 among 1906 adults aged 25–64 years using a probability proportional to size cluster sampling method to estimate the prevalence of non-communicable disease risk factors including physical inactivity. Data on socioeconomic status, health behaviours, and time spent in physical activity during work, commuting and leisure time were collected. Physical activity was measured using the validated Global Physical Activity Questionnaire (GPAQ. Responders were classified as 'sufficiently active' or 'insufficiently active' using the GPAQ protocol. Correlates of insufficient physical activity were identified using multivariable logistic regression. Results A high proportion of adults were physically inactive, with only 56.2% (95% CI = 52.1–60.4 aged 25–64 years in HCMC achieving the minimum recommendation of 'doing 30 minutes moderate-intensity physical activity for at least 5 days per week'. The main contributors to total physical activity among adults were from working and active commuting. Leisure-time physical activity represented a very small proportion (9.4% of individuals' total activity level. Some differences in the pattern of physical activity between men and women were noted, with insufficient activity levels decreasing with age among women, but not among men. Physical inactivity was positively associated with high income (OR = 1.77, 95% CI = 1.05–2.97 and high household

  3. Physical inactivity and pain in older men and women with hip fracture history.

    Science.gov (United States)

    Salpakoski, Anu; Portegijs, Erja; Kallinen, Mauri; Sihvonen, Sanna; Kiviranta, Ilkka; Alen, Markku; Rantanen, Taina; Sipilä, Sarianna

    2011-01-01

    Hip fracture patients often suffer from pain for several months after surgery. This may lead to physical inactivity and subsequent mobility limitation and disability. The purpose of this study was to investigate the association between severe musculoskeletal pain and the level of physical activity in older people with a history of hip fracture. Data were collected from 60- to 85-year-old (n = 78) community-dwelling people, 0.7-7.5 years after hip fracture. Physical activity was assessed with the Yale Physical Activity Survey (YPAS). According to the YPAS summary index distribution, the participants were divided into the physically inactive and physically active groups. Musculoskeletal pain in the lower back, hip or knee region was assessed by the Visual Analog Scale. Pain was defined as severe pain if the subject rated the pain 66 mm or over (upper third of the scale) in at least one of the relevant body regions in the lower body. Thirty-three subjects (42%) experienced severe pain in the lower body, of whom 23 (70%) reported severe pain in the operated hip. Twenty-three patients (30%) used pain medication prescribed by a physician. The level of musculoskeletal pain was significantly higher in the physically inactive (62%) than in the physically active (31%) group (p = 0.011). Logistic regression analysis showed that people with severe pain had over three times (OR: 3.5, 95% CI: 1.30-9.39) the risk for physical inactivity compared to those with less or no pain. Multivariate adjustments for balance confidence, time since fracture, number of chronic diseases and type of surgery did not materially change the estimate (OR: 3.0, 95% CI: 1.00-9.30). Pain is an important associated factor of physical inactivity in older people with a hip fracture history. Pain management may be important in restoring and sustaining the level of physical activity after hip fracture. Further prospective and experimental studies are, however, needed to explore the causality between pain and

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

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  5. Haplotypic Background of a Private Allele at High Frequency in the Americas

    OpenAIRE

    Schroeder, Kari B.; Jakobsson, Mattias; Crawford, Michael H.; Schurr, Theodore G.; Boca, Simina M.; Conrad, Donald F.; Tito, Raul Y.; Osipova, Ludmilla P.; Tarskaia, Larissa A.; Zhadanov, Sergey I.; Wall, Jeffrey D.; Pritchard, Jonathan K.; Malhi, Ripan S.; Smith, David G.; Rosenberg, Noah A.

    2009-01-01

    Recently, the observation of a high-frequency private allele, the 9-repeat allele at microsatellite D9S1120, in all sampled Native American and Western Beringian populations has been interpreted as evidence that all modern Native Americans descend primarily from a single founding population. However, this inference assumed that all copies of the 9-repeat allele were identical by descent and that the geographic distribution of this allele had not been influenced by natural selection. To invest...

  6. Correlation Between HLA-A, B and DRB1 Alleles and Severe Fever with Thrombocytopenia Syndrome.

    Directory of Open Access Journals (Sweden)

    Shu-Jun Ding

    2016-10-01

    Full Text Available Severe fever with thrombocytopenia syndrome (SFTS is an emerging hemorrhagic fever caused by a tick-borne bunyavirus (SFTSV in East Asian countries. The role of human leukocyte antigen (HLA in resistance and susceptibility to SFTSV is not known. We investigated the correlation of HLA locus A, B and DRB1 alleles with the occurrence of SFTS.A total of 84 confirmed SFTS patients (patient group and 501 unrelated non-SFTS patients (healthy individuals as control group from Shandong Province were genotyped by PCR-sequence specific oligonucleotide probe (PCR-SSOP for HLA-A, B and DRB1 loci.Allele frequency was calculated and compared using χ2 test or the Fisher's exact test. A corrected P value was calculated with a bonferronis correction. Odds Ratio (OR and 95% confidence intervals (CI were calculated by Woolf's method.A total of 11 HLA-A, 23 HLA-B and 12 HLA-DRB1 alleles were identified in the patient group, whereas 15 HLA-A, 30 HLA-B and 13 HLA-DRB1 alleles were detected in the control group. The frequencies of A*30 and B*13 in the SFTS patient group were lower than that in the control group (P = 0.0341 and 0.0085, Pc = 0.5115 and 0.252. The ORs of A*30 and B*13 in the SFTS patient group were 0.54 and 0.49, respectively. The frequency of two-locus haplotype A*30-B*13 was lower in the patient group than in the control group(5.59% versus 12.27%, P = 0.037,OR = 0.41, 95%CI = 0.18-0.96 without significance(Pc>0.05. A*30-B*13-DRB1*07 and A*02-B*15-DRB1*04 had strong associations with SFTS resistance and susceptibility respectively (Pc = 0.0412 and 0.0001,OR = 0.43 and 5.07.The host HLA class I polymorphism might play an important role with the occurrence of SFTS. Negative associations were observed with HLA-A*30, HLA-B*13 and Haplotype A*30-B*13, although the associations were not statistically significant. A*30-B*13-DRB1*07 had negative correlation with the occurrence of SFTS; in contrast, haplotype A*02-B*15-DRB1*04 was positively correlated with SFTS.

  7. Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.

    Science.gov (United States)

    Olkhovych, N V; Gorovenko, N G

    2016-01-01

    The pseudodeficiency of lysosomal hydrolases described as a significant reduction in enzyme activi­ty in vitro in clinically healthy individuals, can lead to diagnostic errors in the process of biochemical analysis of lysosomal storage disease in case of its combination with pathology of another origin. Pseudodeficiency is mostly caused by some non-pathogenic changes in the corresponding gene. These changes lead to the in vitro lability of the enzyme molecule, whereas in vivo the enzyme retains its functional activity. To assess the prevalence of the most common lysosomal hydrolases pseudodeficiency alleles in Ukraine, we have determined the frequency of alleles c.1055A>G and c.* 96A>G in the ARSA gene, substitutions c.739C>T (R247W) and c.745C>T (R249W) in the HEXA gene, c.1726G>A (G576S) and c.2065G>A (E689K) in the GAA gene, c.937G>T (D313Y) in the GLA1 gene and c.898G>A (A300T) in the IDUA gene in a group of 117 healthy individuals from different regions of the country and 14 heterozygous carriers of pathogenic mutations in the HEXA gene (parents of children with confirmed diagnosis of Tay-Sachs disease). The total frequency of haplotypes, associated with arylsulfatase A pseudodeficiency, in healthy people in Ukraine (c.1055G/c.*96G and c.1055G/c.*96A haplotypes) was 10.3%. The frequency of c.739C>T (R247W) allele, associated with hexo­saminidase A pseudodeficiency, among Tay-Sachs carriers from Ukraine was 7.1%. The total frequency of α-glucosidase pseudodeficiency haplotypes in healthy individuals in Ukraine (c.1726A/c.2065A and c.1726G/c.2065A haplotypes) was 2.6%. No person among examined individuals with the substitution c.937G>T (D313Y) in the GLA1 gene and c.898G>A (A300T) in the IDUA gene was found. The differential diagnostics of lysosomal storage diseases requires obligatory determination of the presence of the pseudodeficiency alleles, particularly the ones with high incidence in the total population. Ignoring phenomenon of pseudodeficiency may

  8. Diminished levels of allelic losses by homologous recombination in radiation-hypersensitive cells

    International Nuclear Information System (INIS)

    Tatsumi, K.; Abe, M.; Hoki, Y.; Kubo, E.; Muto, M.; Araki, R.; Sato, K.

    2003-01-01

    Mitotic recombination (MR) due to somatic crossing-over is a predominant mechanism for allelic losses in mammalian cells either spontaneous or radiation-induced. A selectable mutation assay accompanying real-time detection PCR was developed to analyze the second step in loss-of-function mutations employing a human lympho-blastoid cell line derived from an obligate heterozygote of 2,8-dihydroxyadenine urolithiasis, adenine phosphoribosyltransferase (APRT) deficiency with a nonsense mutation at exon 3 of the gene. 68 % of spontaneously arising 2,6-diaminopurine resistance (DAP r ) mutant clones were associated with loss of heterozygosity (LOH), while 92 % of 2 Gy gamma-ray induced mutant clones were so associated. Investigation of gene dosage revealed that about one half of the spontaneously arising mutant clones and two-thirds of those induced by gamma-rays showed reduction to homozygosity of the constitutionally inactivated APRT allele. In an ataxia telangiectasia (AT) cell subline in which a new inactivation mutation had been introduced into one APRT allele by ICR-191, MR rarely occurred and exclusively deletions predominated in both spontaneous and X-ray induced DAP r mutants with LOH. A similar assay system was also developed with C3H mouse FM3A mammary tumor cells, SR-1, carrying a C .T transition at exon 5 of an APRT allele. In an XRCC7 (DNA-PKcs) deficient subline of SR-1, SX9 , spontaneous mutation frequencies for the Aprt locus (8AA r ) was 10 -3 , which was about 10 times higher than that in parental SR-1 cells. Mutation frequencies induced by X-rays comparably increased in a dose-dependent manner for the Aprt locus in both cell lines. Against our expectation, the lack of an NHEJ pathway of DNA double strand break repair resulted in a lower proportion (11.1 %) of MR with deletions (77.8 %) as the molecular cause for 8AA r mutations following X-irradiation, while virtually all of X-ray induced 8AA r mutant clones were MR in the control SR-1 cells. Factors

  9. Differentiating Plasmodium falciparum alleles by transforming Cartesian X,Y data to polar coordinates

    Directory of Open Access Journals (Sweden)

    Zimmerman Peter A

    2010-06-01

    Full Text Available Abstract Background Diagnosis of infectious diseases now benefits from advancing technology to perform multiplex analysis of a growing number of variables. These advances enable simultaneous surveillance of markers characterizing species and strain complexity, mutations associated with drug susceptibility, and antigen-based polymorphisms in relation to evaluation of vaccine effectiveness. We have recently developed assays detecting single nucleotide polymorphisms (SNPs in the P. falciparum genome that take advantage of post-PCR ligation detection reaction and fluorescent microsphere labeling strategies. Data from these assays produce a spectrum of outcomes showing that infections result from single to multiple strains. Traditional methods for distinguishing true positive signal from background can cause false positive diagnoses leading to incorrect interpretation of outcomes associated with disease treatment. Results Following analysis of Plasmodium falciparum dihydrofolate reductase SNPs associated with resistance to a commonly used antimalarial drug, Fansidar (Sulfadoxine/pyrimethamine, and presumably neutral SNPs for parasite strain differentiation, we first evaluated our data after setting a background signal based on the mean plus three standard deviations for known negative control samples. Our analysis of single allelic controls suggested that background for the absent allele increased as the concentration of the target allele increased. To address this problem, we introduced a simple change of variables from customary (X,Y (Cartesian coordinates to planar polar coordinates (X = rcos(θ, Y = rsin(θ. Classification of multidimensional fluorescence signals based on histograms of angular and radial data distributions proved more effective than classification based on Cartesian thresholds. Comparison with known diallelic dilution controls suggests that histogram-based classification is effective for major:minor allele concentration ratios as

  10. A novel Phakopsora pachyrhizi resistance allele (Rpp) contributed by PI 567068A.

    Science.gov (United States)

    King, Zachary R; Harris, Donna K; Pedley, Kerry F; Song, Qijian; Wang, Dechun; Wen, Zixiang; Buck, James W; Li, Zenglu; Boerma, H Roger

    2016-03-01

    The Rpp6 locus of PI 567102B was mapped from 5,953,237 to 5,998,461 bp (chromosome 18); and a novel allele at the Rpp6 locus or tightly linked gene Rpp[PI567068A] of PI 567068A was mapped from 5,998,461 to 6,160,481 bp. Soybean rust (SBR), caused by the obligate, fungal pathogen Phakopsora pachyrhizi is an economic threat to soybean production, especially in the Americas. Host plant resistance is an important management strategy for SBR. The most recently described resistance to P. pachyrhizi (Rpp) gene is Rpp6 contributed by PI 567102B. Rpp6 was previously mapped to an interval of over four million base pairs on chromosome 18. PI 567068A was recently demonstrated to possess a resistance gene near the Rpp6 locus, yet PI 567068A gave a differential isolate reaction to several international isolates of P. pachyrhizi. The goals of this research were to fine map the Rpp6 locus of PI 567102B and PI 567068A and determine whether or not PI 567068A harbors a novel Rpp6 allele or another allele at a tightly linked resistance locus. Linkage mapping in this study mapped Rpp6 from 5,953,237 to 5,998,461 bp (LOD score of 58.3) and the resistance from PI 567068A from 5,998,461 to 6,160,481 bp (LOD score of 4.4) (Wm82.a1 genome sequence). QTL peaks were 139,033 bp apart from one another as determined by the most significant SNPs in QTL mapping. The results of haplotype analysis demonstrated that PI 567102B and PI 567068A share the same haplotype in the resistance locus containing both Rpp alleles, which was designated as the Rpp6/Rpp[PI567068A] haplotype. The Rpp6/Rpp[PI567068A] haplotype identified in this study can be used as a tool to rapidly screen other genotypes that possess a Rpp gene(s) and detect resistance at the Rpp6 locus in diverse germplasm.

  11. Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine

    Directory of Open Access Journals (Sweden)

    N. V. Olkhovych

    2016-10-01

    Full Text Available The pseudodeficiency of lysosomal hydrolases described as a significant reduction in enzyme activi­ty in vitro in clinically healthy individuals, can lead to diagnostic errors in the process of biochemical analysis of lysosomal storage disease in case of its combination with pathology of another origin. Pseudodeficiency is mostly caused by some non-pathogenic changes in the corresponding gene. These changes lead to the in vitro lability of the enzyme molecule, whereas in vivo the enzyme retains its functional activity. To assess the prevalence of the most common lysosomal hydrolases pseudodeficiency alleles in Ukraine, we have determined the frequency of alleles c.1055A>G and c.* 96A>G in the ARSA gene, substitutions c.739C>T (R247W and c.745C>T (R249W in the HEXA gene, c.1726G>A (G576S and c.2065G>A (E689K in the GAA gene, c.937G>T (D313Y in the GLA1 gene and c.898G>A (A300T in the IDUA gene in a group of 117 healthy individuals from different regions of the country and 14 heterozygous carriers of pathogenic mutations in the HEXA gene (parents of children with confirmed diagnosis of Tay-Sachs disease. The total frequency of haplotypes, associated with arylsulfatase A pseudodeficiency, in healthy people in Ukraine (c.1055G/c.*96G and c.1055G/c.*96A haplotypes was 10.3%. The frequency of c.739C>T (R247W allele, associated with hexo­saminidase A pseudodeficiency, among Tay-Sachs carriers from Ukraine was 7.1%. The total frequency of α-glucosidase pseudodeficiency haplotypes in healthy individuals in Ukraine (c.1726A/c.2065A and c.1726G/c.2065A haplotypes was 2.6%. No person among examined individuals with the substitution c.937G>T (D313Y in the GLA1 gene and c.898G>A (A300T in the IDUA gene was found. The differential diagnostics of lysosomal storage diseases requires obligatory determination of the presence of the pseudodeficiency alleles, particularly the ones with high incidence in the total population. Ignoring phenomenon of

  12. Towards allele mining of bacterial wilt disease resistance gene in tomato

    International Nuclear Information System (INIS)

    Galvez, H.F.; Narciso, J.O.; Opina, N.L.; Canama, A.O.; Colle, M.G.; Latiza, M.A.; Caspillo, C.L.; Bituin, J.L.; Frankie, R.B.; Hautea, D.M.

    2005-01-01

    Tomato (Lycopersicon esculentum Mill.) is the most important vegetable commodity of the Philippines. Bacterial wilt caused by Ralstonia solanacearum is one serious constraint in tomato production particularly during off-season planting. A major locus derived from H7996 that confers resistance to bacterial wilt has been mapped in the tomato genome. To validate the biological function of the resistance locus and generate multiple allele -mimics-, targeted mutation was induced in tomato using gamma ray and ethyl methane sulfonate (EMS) mutagens. Suitable mutagen treatment was established by evaluating a wide range of mutagen doses/concentrations for a) percent seed germination, b) reduction in plant height, and c) loss of resistance. Six hundred Gy and 1.0% EMS were identified to generate large M1 families of H7996. From 10,000 initial seeds treated with either gamma ray or EMS, a total of 3,663 M1 plants were generated. M2 seeds were harvested from all surviving M1 plants. Several DNA markers have been resourced and are being developed specific to the bacterial wilt resistant gene. In the large M2 population, of H7996, both the phenotypic manifestation of bacterial wilt susceptibility and nucleotide changes in the resistance locus will be evaluated. Large M3 families for the different allele series of the bacterial wilt resistance gene will be established for future high throughput TILLING (Targeting Induced Local Lesions in Genomes) analysis in the gene region

  13. Association of an Agouti allele with fawn or sable coat color in domestic dogs.

    Science.gov (United States)

    Berryere, Tom G; Kerns, Julie A; Barsh, Gregory S; Schmutz, Sheila M

    2005-04-01

    The type of pigment synthesized in mammalian hair, yellow-red pheomelanin or black-brown eumelanin, depends on the interaction between Agouti protein and the Melanocortin 1 receptor. Although the genetics of pigmentation is broadly conserved across most mammalian species, pigment type-switching in domestic dogs is unusual because a yellow-tan coat with variable amounts of dark hair is thought to be caused by an allele of the Agouti locus referred to as fawn or sable (a(y)). In a large survey covering thirty seven breeds, we identified an Agouti allele with two missense alterations, A82S and R83H, which was present (heterozygous or homozygous) in 41 dogs (22 breeds) with a fawn or sable coat, but was absent from 16 dogs (8 breeds) with a black-and-tan or tricolor phenotype. In an additional 33 dogs (14 breeds) with a eumelanic coat, 8 (German Shepherd Dogs, Groenendaels, Schipperkes, or Shetland Sheepdogs) were homozygous for a previously reported mutation, non-agouti R96C; the remainder are likely to have carried dominant black, which is independent of and epistatic to Agouti. This work resolves some of the complexity in dog coat color genetics and provides diagnostic opportunities and practical guidelines for breeders.

  14. Absence of the RET+3:T allele in the MTC patients

    Directory of Open Access Journals (Sweden)

    Borun Pawel

    2012-10-01

    Full Text Available Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152 for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development.

  15. Transmission advantage favors selfing allele in experimental populations of self-incompatible Witheringia solanacea (solanaceae).

    Science.gov (United States)

    Stone, Judy L; VanWyk, Emily J; Hale, Jennifer R

    2014-07-01

    The evolution of self-fertilization is one of the most commonly traversed transitions in flowering plants, with profound implications for population genetic structure and evolutionary potential. We investigated factors influencing this transition using Witheringia solanacea, a predominantly self-incompatible (SI) species within which self-compatible (SC) genotypes have been identified. We showed that self-compatibility in this species segregates with variation at the S-locus as inherited by plants in F1 and F2 generations. To examine reproductive assurance and the transmission advantage of selfing, we placed SC and SI genotypes in genetically replicated gardens and monitored male and female reproductive success, as well as selfing rates of SC plants. Self-compatibility did not lead to increased fruit or seed set, even under conditions of pollinator scarcity, and the realized selfing rate of SC plants was less than 10%. SC plants had higher fruit abortion rates, consistent with previous evidence showing strong inbreeding depression at the embryonic stage. Although the selfing allele did not provide reproductive assurance under observed conditions, it also did not cause pollen discounting, so the transmission advantage of selfing should promote its spread. Given observed numbers of S-alleles and selfing rates, self-compatibility should spread even under conditions of exceedingly high initial inbreeding depression. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

  16. Molecular strain typing of Brucella abortus isolates from Italy by two VNTR allele sizing technologies.

    Science.gov (United States)

    De Santis, Riccardo; Ancora, Massimo; De Massis, Fabrizio; Ciammaruconi, Andrea; Zilli, Katiuscia; Di Giannatale, Elisabetta; Pittiglio, Valentina; Fillo, Silvia; Lista, Florigio

    2013-10-01

    Brucellosis, one of the most important re-emerging zoonoses in many countries, is caused by bacteria belonging to the genus Brucella. Furthermore these bacteria represent potential biological warfare agents and the identification of species and biovars of field strains may be crucial for tracing back source of infection, allowing to discriminate naturally occurring outbreaks instead of bioterrorist events. In the last years, multiple-locus variable-number tandem repeat analysis (MLVA) has been proposed as complement of the classical biotyping methods and it has been applied for genotyping large collections of Brucella spp. At present, the MLVA band profiles may be resolved by automated or manual procedures. The Lab on a chip technology represents a valid alternative to standard genotyping techniques (as agarose gel electrophoresis) and it has been previously used for Brucella genotyping. Recently, a new high-throughput genotyping analysis system based on capillary gel electrophoresis, the QIAxcel, has been described. The aim of the study was to evaluate the ability of two DNA sizing equipments, the QIAxcel System and the Lab chip GX, to correctly call alleles at the sixteen loci including one frequently used MLVA assay for Brucella genotyping. The results confirmed that these technologies represent a meaningful advancement in high-throughput Brucella genotyping. Considering the accuracy required to confidently resolve loci discrimination, QIAxcel shows a better ability to measure VNTR allele sizes compared to LabChip GX.

  17. A high-throughput method for genotyping S-RNase alleles in apple

    DEFF Research Database (Denmark)

    Larsen, Bjarne; Ørgaard, Marian; Toldam-Andersen, Torben Bo

    2016-01-01

    We present a new efficient screening tool for detection of S-alleles in apple. The protocol using general and multiplexed primers for PCR reaction and fragment detection on an automatized capillary DNA sequencer exposed a higher number of alleles than any previous studies. Analysis of alleles...

  18. Allele-specific suppression of mutant huntingtin using antisense oligonucleotides: providing a therapeutic option for all Huntington disease patients.

    Science.gov (United States)

    Skotte, Niels H; Southwell, Amber L; Østergaard, Michael E; Carroll, Jeffrey B; Warby, Simon C; Doty, Crystal N; Petoukhov, Eugenia; Vaid, Kuljeet; Kordasiewicz, Holly; Watt, Andrew T; Freier, Susan M; Hung, Gene; Seth, Punit P; Bennett, C Frank; Swayze, Eric E; Hayden, Michael R

    2014-01-01

    Huntington disease (HD) is an inherited, fatal neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. The mutant protein causes neuronal dysfunction and degeneration resulting in motor dysfunction, cognitive decline, and psychiatric disturbances. Currently, there is no disease altering treatment, and symptomatic therapy has limited benefit. The pathogenesis of HD is complicated and multiple pathways are compromised. Addressing the problem at its genetic root by suppressing mutant huntingtin expression is a promising therapeutic strategy for HD. We have developed and evaluated antisense oligonucleotides (ASOs) targeting single nucleotide polymorphisms that are significantly enriched on HD alleles (HD-SNPs). We describe our structure-activity relationship studies for ASO design and find that adjusting the SNP position within the gap, chemical modifications of the wings, and shortening the unmodified gap are critical for potent, specific, and well tolerated silencing of mutant huntingtin. Finally, we show that using two distinct ASO drugs targeting the two allelic variants of an HD-SNP could provide a therapeutic option for all persons with HD; allele-specifically for roughly half, and non-specifically for the remainder.

  19. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations : Case series, review and follow-up guidelines

    NARCIS (Netherlands)

    Herkert, Johanna C; Niessen, Renée C; Olderode-Berends, Maria J W; Veenstra-Knol, Hermine E; Vos, Yvonne J; van der Klift, Heleen M; Scheenstra, Rene; Tops, Carli M J; Karrenbeld, Arend; Peters, Frans T M; Hofstra, Robert M W; Kleibeuker, Jan H; Sijmons, Rolf H

    BACKGROUND: Bi-allelic germline mutations of one of the DNA mismatch repair genes, so far predominantly found in PMS2, cause constitutional MMR-deficiency syndrome. This rare disorder is characterised by paediatric intestinal cancer and other malignancies. We report the clinical, immunohistochemical

  20. Baseline risk assessment of ground water contamination at the inactive uriniferous lignite ashing site near Belfield, North Dakota

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1994-08-01

    This Baseline Risk Assessment of Ground Water Contamination at the Inactive Uraniferous Lignite Ashing Site Near Belfield, North Dakota, evaluates potential impacts to public health or the environment resulting from ground water contamination at the site where coal containing uranium was burned to produce uranium. The US Department of Energy`s Uranium Mill Tailings Remedial Action (UMTRA) Project is evaluating plans to remedy soil and ground water contamination at the site. Phase I of the UMTRA Project consists of determining the extent of soil contamination. Phase II of the UMTRA Project consists of evaluating ground water contamination. Under Phase II, results of this risk assessment will help determine what remedial actions may be necessary for contaminated ground water at the site. This risk assessment evaluates the potential risks to human health and the environment resulting from exposure to contaminated ground water as it relates to historic processing activities at the site. Potential risk is quantified for constituents introduced from the processing activities, and not for those constituents naturally occurring in water quality in the site vicinity. Background ground water quality has the potential to cause adverse health effects from exposure through drinking. Any risks associated with contaminants attributable to site activities are incremental to these risks from background ground water quality. This incremental risk from site-related contaminants is quantified in this risk assessment. The baseline risk from background water quality is incorporated only into the assessment of potential chemical interactions and the definition of the overall site condition.

  1. Baseline risk assessment of ground water contamination at the inactive uraniferous lignite ashing site near Belfield, North Dakota

    International Nuclear Information System (INIS)

    1994-08-01

    This Baseline Risk Assessment of Ground Water Contamination at the Inactive Uraniferous Lignite Ashing Site Near Belfield, North Dakota, evaluates potential impacts to public health or the environment resulting from ground water contamination at the site where coal containing uranium was burned to produce uranium. The US Department of Energy's Uranium Mill Tailings Remedial Action (UMTRA) Project is evaluating plans to remedy soil and ground water contamination at the site. Phase I of the UMTRA Project consists of determining the extent of soil contamination. Phase II of the UMTRA Project consists of evaluating ground water contamination. Under Phase II, results of this risk assessment will help determine what remedial actions may be necessary for contaminated ground water at the site. This risk assessment evaluates the potential risks to human health and the environment resulting from exposure to contaminated ground water as it relates to historic processing activities at the site. Potential risk is quantified for constituents introduced from the processing activities, and not for those constituents naturally occurring in water quality in the site vicinity. Background ground water quality has the potential to cause adverse health effects from exposure through drinking. Any risks associated with contaminants attributable to site activities are incremental to these risks from background ground water quality. This incremental risk from site-related contaminants is quantified in this risk assessment. The baseline risk from background water quality is incorporated only into the assessment of potential chemical interactions and the definition of the overall site condition

  2. Loss of a single allele for Ku80 leads to progenitor dysfunction and accelerated aging in skeletal muscle

    Science.gov (United States)

    Didier, Nathalie; Hourdé, Christophe; Amthor, Helge; Marazzi, Giovanna; Sassoon, David

    2012-01-01

    Muscle wasting is a major cause of morbidity in the elderly. Ku80 is required for DNA double strand repair and is implicated in telomere maintenance. Complete loss-of-function leads to reduced post-natal growth and severe progeria in mice. We examined the role of Ku80 in age-related skeletal muscle atrophy. While complete loss of Ku80 leads to pronounced aging in muscle as expected, accompanied by accumulation of DNA damage, loss of a single allele is sufficient to accelerate aging in skeletal muscle although post-natal growth is normal. Ku80 heterozygous muscle shows no DNA damage accumulation but undergoes premature telomere shortening that alters stem cell self-renewal through stress response pathways including p53. These data reveal an unexpected requirement for both Ku80 alleles for optimal progenitor function and prevention of early onset aging in muscle, as well as providing a useful model for therapeutic approaches. PMID:22915554

  3. The acute effects of strength training on inflammatory markers predicting atherosclerosis: a study on inactive middle-aged men

    Directory of Open Access Journals (Sweden)

    Bizheh N

    2011-06-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Cardiovascular diseases, especially atherosclerosis, are the main causes of morbidity and mortality worldwide. The disease has had an increasing prevalence in Iran in recent years. Homocysteine and C-reactive protein (CRP are two novel cardiovascular risk factors that independently predict risks of atherosclerosis. The purpose of this study was to investigate the effects of one session of circuit resistance training on the blood levels of the aforesaid inflammatory markers in inactive middle-aged men."n"nMethods: The participants of this study included twenty-three healthy but inactive middle-aged men who were overweight and were randomly divided into two experimental (n=14 and control (n=9 groups. The activity included doing exercises with the subjects' 35% one-repetition maximum (1-RM intensity at ten different stations. Blood levels of homocysteine and hs-CRP were measured before and after the exercise."n"nResults: Analysis of data using independent samples t-test showed a significant increment in the serum levels of homocysteine and hs-CRP after training in the experimental (P<0.05 versus the control group."n"nConclusion: Elevation of homocysteine levels is due to the increase in protein metabolism

  4. Lack of exercise is a major cause of chronic diseases

    Science.gov (United States)

    Booth, Frank W.; Roberts, Christian K.; Laye, Matthew J.

    2014-01-01

    Chronic diseases are major killers in the modern era. Physical inactivity is a primary cause of most chronic diseases. The initial third of the article considers: activity and prevention definitions; historical evidence showing physical inactivity is detrimental to health and normal organ functional capacities; cause vs. treatment; physical activity and inactivity mechanisms differ; gene-environment interaction [including aerobic training adaptations, personalized medicine, and co-twin physical activity]; and specificity of adaptations to type of training. Next, physical activity/exercise is examined as primary prevention against 35 chronic conditions [Accelerated biological aging/premature death, low cardiorespiratory fitness (VO2max), sarcopenia, metabolic syndrome, obesity, insulin resistance, prediabetes, type 2 diabetes, non-alcoholic fatty liver disease, coronary heart disease, peripheral artery disease, hypertension, stroke, congestive heart failure, endothelial dysfunction, arterial dyslipidemia, hemostasis, deep vein thrombosis, cognitive dysfunction, depression and anxiety, osteoporosis, osteoarthritis, balance, bone fracture/falls, rheumatoid arthritis, colon cancer, breast cancer, endometrial cancer, gestational diabetes, preeclampsia, polycystic ovary syndrome, erectile dysfunction, pain, diverticulitis, constipation, and gallbladder diseases]. The article ends with consideration of deterioration of risk factors in longer-term sedentary groups; clinical consequences of inactive childhood/adolescence; and public policy. In summary, the body rapidly maladapts to insufficient physical activity, and if continued, results in substantial decreases in both total and quality years of life. Taken together, conclusive evidence exists that physical inactivity is one important cause of most chronic diseases. In addition, physical activity primarily prevents, or delays, chronic diseases, implying that chronic disease need not be an inevitable outcome during life

  5. Topical thermal therapy with hot packs suppresses physical inactivity-induced mechanical hyperalgesia and up-regulation of NGF.

    Science.gov (United States)

    Nakagawa, Tatsuki; Hiraga, Shin-Ichiro; Mizumura, Kazue; Hori, Kiyomi; Ozaki, Noriyuki; Koeda, Tomoko

    2017-10-12

    We focused on the analgesic effect of hot packs for mechanical hyperalgesia in physically inactive rats. Male Wistar rats were randomly divided into four groups: control, physical inactivity (PI), PI + sham treatment (PI + sham), and PI + hot pack treatment (PI + hot pack) groups. Physical inactivity rats wore casts on both hind limbs in full plantar flexed position for 4 weeks. Hot pack treatment was performed for 20 min a day, 5 days a week. Although mechanical hyperalgesia and the up-regulation of NGF in the plantar skin and gastrocnemius muscle were observed in the PI and the PI + sham groups, these changes were significantly suppressed in the PI + hot pack group. The present results clearly demonstrated that hot pack treatment was effective in reducing physical inactivity-induced mechanical hyperalgesia and up-regulation of NGF in plantar skin and gastrocnemius muscle.

  6. Effect of inactive yeast cell wall on growth performance, survival rate and immune parameters in Pacific White Shrimp (Litopenaeus vannamei

    Directory of Open Access Journals (Sweden)

    Rutchanee Chotikachinda

    2008-10-01

    Full Text Available Effects of dietary inactive yeast cell wall on growth performance, survival rate, and immune parameters in pacific white shrimp (Litopenaeus vannamei was investigated. Three dosages of inactive yeast cell wall (0, 1, and 2 g kg-1 were tested in three replicate groups of juvenile shrimps with an average initial weight of 7.15±0.05 g for four weeks. There was no significant difference in final weight, survival rate, specific growth rate, feed conversion ratio, feed intake, protein efficiency ratio, and apparent net protein utilization of each treatments. However, different levels of inactive yeast cell wall showed an effect on certain immune parameters (p<0.05. Total hemocyte counts, granular hemocyte count, and bacterial clearance were better in shrimp fed diets supplemented with 1 and 2 g kg-1 inactive yeast cell wall as compared with thecontrol group.

  7. The Rh allele frequencies in Gaza city in Palestine

    Directory of Open Access Journals (Sweden)

    Skaik Younis

    2011-01-01

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

  8. Autoimmune disease classification by inverse association with SNP alleles.

    Directory of Open Access Journals (Sweden)

    Marina Sirota

    2009-12-01

    Full Text Available With multiple genome-wide association studies (GWAS performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction of allele-specific disease associations for SNPs. In this work, we refine the notion of a genetic variation profile for a given disease to capture strength of association with multiple SNPs in an allele-specific fashion. We apply this method to compare genetic variation profiles of six autoimmune diseases: multiple sclerosis (MS, ankylosing spondylitis (AS, autoimmune thyroid disease (ATD, rheumatoid arthritis (RA, Crohn's disease (CD, and type 1 diabetes (T1D, as well as five non-autoimmune diseases. We quantify pair-wise relationships between these diseases and find two broad clusters of autoimmune disease where SNPs that make an individual susceptible to one class of autoimmune disease also protect from diseases in the other autoimmune class. We find that RA and AS form one such class, and MS and ATD another. We identify specific SNPs and genes with opposite risk profiles for these two classes. We furthermore explore individual SNPs that play an important role in defining similarities and differences between disease pairs. We present a novel, systematic, cross-platform approach to identify allele-specific relationships between disease pairs based on genetic variation as well as the individual SNPs which drive the relationships. While recognizing similarities between diseases might lead to identifying novel treatment options, detecting differences between diseases previously thought to be similar may point to key novel disease-specific genes and pathways.

  9. Increased risk of venous thrombosis by AB alleles of the ABO blood group and Factor V Leiden in a Brazilian population

    OpenAIRE

    Lima, Magaly B. P. L. V.; de Oliveira-Filho, Aldemir Branco; Campos, Júlia F.; Melo, Fárida C. B. C.; Neves, Washington Batista das; Melo, Raul Antônio Morais; Lemos, José Alexandre Rodrigues

    2009-01-01

    Most cases of a predisposition to venous thrombosis are caused by resistance to activated protein C, associated in 95% of cases with the Factor V Leiden allele (FVL or R506Q). Several recent studies report a further increased risk of thrombosis by an association between the AB alleles of the ABO blood group and Factor V Leiden. The present study investigated this association with deep vein thrombosis (DVT) in individuals treated at the Hemocentro de Pernambuco in northeastern Brazil. A case-c...

  10. Remedial Action Plan and site design for stabilization of the inactive uranium mill tailings site at Gunnison, Colorado

    International Nuclear Information System (INIS)

    1992-10-01

    The US Environmental Protection Agency (EPA) has established health and environmental protection regulations to correct and prevent groundwater contamination resulting from processing activities at inactive uranium milling sites (40 CFR 192). The US Department of Energy (DOE) is responsible for assessing the inactive uranium processing sites. The DOE has determined this assessment shall include information on hydrogeologic site characterization. This document contains appendices to Attachment 3, Groundwater Hydrology Report included are calculations

  11. Mental health and physical inactivity during pregnancy: a cross-sectional study nested in the BRISA cohort study

    OpenAIRE

    Takahasi, Eliana Harumi Morioka; Alves, Maria Teresa Seabra Soares de Britto e; Alves, Gilberto Sousa; Silva, Antônio Augusto Moura da; Batista, Rosângela Fernandes Lucena; Simões, Vanda Maria Ferreira; Del-Ben, Cristina Marta; Barbieri, Marco Antonio

    2013-01-01

    The aim of this study was to investigate the association between mental health and physical inactivity in 1,447 pregnant women in the second trimester of pregnancy. Subjects answered the short version of the International Physical Activity Questionnaire. Symptoms of depression and anxiety, and stress levels were assessed using the Center for Epidemiological Studies Depression Scale, the Beck Anxiety Inventory and the Perceived Stress Scale, respectively. The rate of physical inactivity was lo...

  12. Clinical manifestations of intermediate allele carriers in Huntington disease.

    Science.gov (United States)

    Cubo, Esther; Ramos-Arroyo, María A; Martinez-Horta, Saul; Martínez-Descalls, Asunción; Calvo, Sara; Gil-Polo, Cecilia

    2016-08-09

    There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. We assessed a cohort of participants at risk with Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. NCT01590589. © 2016 American Academy of Neurology.

  13. AB0 blood subgroup allele frequencies in the Turkish population.

    Science.gov (United States)

    Akbas, Fahri; Aydin, Müge; Cenani, Asim

    2003-09-01

    We determined the AB0 blood group system with a PCR based technique termed APLP (Amplified Product Length Polymorphism) in the Turkish population. The method includes ten different allele specific primers and permits identification of the major AB0 genotypes and its suballeles (A1-A2-B-0A-02-0G-AG). The suballeles were amplified in a single tube reaction. We have determined AB0 phenotypes in 129 Turkish individuals. No significant deviation from the Hardy-Weinberg equilibrium was observed.

  14. Identification and characterization of two CD4 alleles in Microminipigs

    OpenAIRE

    Matsubara, Tatsuya; Nishii, Naohito; Takashima, Satoshi; Takasu, Masaki; Imaeda, Noriaki; Aiki-Oshimo, Kayo; Yamazoe, Kazuaki; Kakisaka, Michinori; Takeshima, Shin-nosuke; Aida, Yoko; Kametani, Yoshie; Kulski, Jerzy K.; Ando, Asako; Kitagawa, Hitoshi

    2016-01-01

    Background We previously identified two phenotypes of CD4+ cells with and without reactions to anti-pig CD4 monoclonal antibodies by flow cytometry in a herd of Microminipigs. In this study, we analyzed the coding sequences of CD4 and certified the expression of CD4 molecules in order to identify the genetic sequence variants responsible for the positive and negative PBMCs reactivity to anti-pig CD4 monoclonal antibodies. Results We identified two CD4 alleles, CD4.A and CD4.B, corresponding t...

  15. Organometallic Half-Sandwich Dichloridoruthenium(II) Complexes with 7-Azaindoles: Synthesis, Characterization and Elucidation of Their Anticancer Inactivity against A2780 Cell Line

    Science.gov (United States)

    Štarha, Pavel; Hanousková, Lucie; Trávníček, Zdeněk

    2015-01-01

    A series of organometallic half-sandwich dichloridoruthenium(II) complexes of the general formula [Ru(η6-p-cym)(naza)Cl2] (1–8; p-cym = p-cymene; naza = 7-azaindole or its derivatives) was synthesised and fully characterized by elemental analysis, mass spectrometry, and infrared and multinuclear NMR spectroscopy. A single-crystal X-ray structural analysis of [Ru(η6-p-cym)(2Me4Claza)Cl2] (6) revealed a typical piano-stool geometry with an N7-coordination mode of 2-methyl-4-chloro-7-azaindole (2Me4Claza). The complexes have been found to be inactive against human ovarian cancer cell line A2780 up to the highest applied concentration (IC50 > 50.0 μM). An inactivity of the complexes is caused by their instability in water-containing solvents connected with a release of the naza N-donor ligand, as proved by the detailed 1H NMR, mass spectrometry and fluorescence experiments. PMID:26606245

  16. Daily pilates exercise or inactivity for patients with low back pain: a clinical prospective observational study.

    Science.gov (United States)

    Notarnicola, A; Fischetti, F; Maccagnano, G; Comes, R; Tafuri, S; Moretti, B

    2014-02-01

    Studies have shown the effectiveness of a few weekly pilates sessions as helping to reduce lower back pain (LBP). However many patients fear that physical activity can actually make the pain and disability worse. We carried out this observational prospective clinical study to look at the effects that taking part in daily pilates has one on side and on the other the effects of LBP management without physical exercise. The volunteers who participated in this study were recruited from among some local cultural associations. Patients affected by LBP were evaluated. The subjects were 60 volunteers (27 males and 33 females) with a mean age of 51.2 years who had chronic low back pain (CLBP). They were allocated to pilates group (N.=30) or inactivity control group (N.=30). The pilates group performed one-hour lesson of pilates exercise, 5 lessons per week during the following 6 months. The inactivity group continued with their normal daily activities. The Roland-Morris Disability, the Oswestry, the SF-36 and the Spinal Functional Sort Questionaries of all subjects were measured at the baseline (T1) and at 6 months (T2). At T2 improvements were observed in the pilates group with increases in physical and social functioning, general health and vitality (Ppilates. Some authors underlined the possible risk of a lack of adherence to an exercise program at home. This study suggests that a daily pilates program is effective for the management of CLBP. On the other hand, the inactivity contributes to further worsening, inducing a vicious cycle in which pain and physical activity intolerance follow each other.

  17. Muscle inactivity and activity patterns after sedentary time--targeted randomized controlled trial.

    Science.gov (United States)

    Pesola, Arto J; Laukkanen, Arto; Haakana, Piia; Havu, Marko; Sääkslahti, Arja; Sipilä, Sarianna; Finni, Taija

    2014-11-01

    Interventions targeting sedentary time are needed. We used detailed EMG recordings to study the short-term effectiveness of simple sedentary time-targeted tailored counseling on the total physical activity spectrum. This cluster randomized controlled trial was conducted between 2011 and 2013 (InPact, ISRCTN28668090), and short-term effectiveness of counseling is reported in the present study. A total of 133 office workers volunteered to participate, from which muscle activity data were analyzed from 48 (intervention, n = 24; control, n = 24). After a lecture, face-to-face tailored counseling was used to set contractually binding goals regarding breaking up sitting periods and increasing family based physical activity. Primary outcome measures were assessed 11.8 ± 1.1 h before and a maximum of 2 wk after counseling including quadriceps and hamstring muscle inactivity time, sum of the five longest muscle inactivity periods, and light muscle activity time during work, commute, and leisure time. Compared with those in the controls, counseling decreased the intervention group's muscle inactivity time by 32.6 ± 71.8 min from 69.1% ± 8.5% to 64.6% ± 10.9% (whole day, P work, P activity time increased by 20.6 ± 52.6 min, from 22.2% ± 7.9% to 25.0% ± 9.7% (whole day, P work, P work time, average EMG amplitude (percentage of EMG during maximal voluntary isometric contraction (MVC) (%EMG MVC)) increased from 1.6% ± 0.9% to 1.8% ± 1.0% (P activity. During work time, average EMG amplitude increased by 13%, reaching an average of 1.8% of EMG MVC. If maintained, this observed short-term effect may have health-benefiting consequences.

  18. Are Self-report Measures Able to Define Individuals as Physically Active or Inactive?

    Science.gov (United States)

    Steene-Johannessen, Jostein; Anderssen, Sigmund A; van der Ploeg, Hidde P; Hendriksen, Ingrid J M; Donnelly, Alan E; Brage, Søren; Ekelund, Ulf

    2016-02-01

    Assess the agreement between commonly used self-report methods compared with objectively measured physical activity (PA) in defining the prevalence of individuals compliant with PA recommendations. Time spent in moderate and vigorous PA (MVPA) was measured at two time points in 1713 healthy individuals from nine European countries using individually calibrated combined heart rate and movement sensing. Participants also completed the Recent Physical Activity Questionnaire (RPAQ), short form of the International Physical Activity Questionnaire (IPAQ), and short European Prospective Investigation into Cancer and Nutrition Physical Activity Questionnaire (EPIC-PAQ). Individuals were categorized as active (e.g., reporting ≥150 min of MVPA per week) or inactive, based on the information derived from the different measures. Sensitivity and specificity analyses and Kappa statistics were performed to evaluate the ability of the three PA questionnaires to correctly categorize individuals as active or inactive. Prevalence estimates of being sufficiently active varied significantly (P for all PAQ 39.9% [95% CI, 37.5-42.1] and objective measure 48.5% [95% CI, 41.6-50.9]. All self-report methods showed low or moderate sensitivity (IPAQ 20.0%, RPAQ 18.7%, and EPIC-PAQ 69.8%) to correctly classify inactive people and the agreement between objective and self-reported PA was low (ĸ = 0.07 [95% CI, 0.02-0.12], 0.12 [95% CI, 0.06-0.18], and 0.19 [95% CI, 0.13-0.24] for IPAQ, RPAQ, and EPIC-PAQ, respectively). The modest agreement between self-reported and objectively measured PA suggests that population levels of PA derived from self-report should be interpreted cautiously. Implementation of objective measures in large-scale cohort studies and surveillance systems is recommended.

  19. Cardiovascular risk in active, insufficiently active and inactive users of public parks

    Directory of Open Access Journals (Sweden)

    Gustavo Fernades de Oliveira

    2008-07-01

    Full Text Available http://dx.doi.org/10.5007/1980-0037.2008v10n2p170 Physical activity has been recommended for heart disease prevention and rehabilitation. However, when performed incorrectly, which is more common when practiced without supervision and in public places, the risk of cardiovascular events increases. The objective of this study was to compare cardiovascular risk factors among users of São Paulo´s public parks with differing levels of physical activity – active, insuffi ciently active, and inactive. The evaluation consisted of a questionnaire about cardiovascular diseases, symptoms and risk factors; physical activity practice; and anthropometric and arterial blood pressure measurements. There was no difference between the groups in terms of the prevalence of cardiovascular disease or controllable risk factors. However, inactive people had a higher prevalence of cardiovascular symptoms (35%. With regard to uncontrollable cardiovascular risk factors, there was a higher prevalence of the gender/age factor among active (50% and insuffi ciently active (45% subjects, and heredity was more prevalent among inactive people (35%. There was no difference in obesity or blood pressure between the groups. The study also showed that active and insuffi ciently active subjects have a better knowledge of their health status, and a higher prevalence of being prescribed physical activity by physicians. The results demonstrate that most of the people who exercise in public parks are elderly and are at a moderate to high cardiovascular risk from this practice, which suggests that a physical education professional should be present.

  20. Anthropometric measurements of students athletes in relation to physically inactive students

    Directory of Open Access Journals (Sweden)

    Namik Trtak

    2012-04-01

    Full Text Available Introduction: Anthropometry is a method of anthropology that refers to the measuring and testing the human body and to the relationship between the size of its individual parts.The task of anthropometry is as accurately as possible quantitatively characterize the morphological features of the human body.Measurements are made due to the anthropometric points which can be: fixed (standard on the site of prominence and virtual (change due to the bodyposition. Goals of research: To evaluate the impact of basketball on the growth and development of seventeen years old adolescents and prevention of deformities of the spinal column and chest.Methods: The study included 40 respondents. Criteria for inclusion: male respondents aged 17 years who played basketball for more than one year, male respondents aged 17 years who are physically inactive. Criteria for exclusion: female respondents, respondents who played basketball for less than one year, respondents who are engaged in some other sport professionally or recreationally, respondents younger and olderthan 17 years. In the study,there were made measurements of thorax scope in the axillary and mamilar level, measurements of body weight and height and measurements of Body mass index.Results of research: Out of 40 respondents 20 are basketball players and 20 physically inactive. Compared to the average value between the two groups of respondents certain differences were observed, which aremost noticeable in body weight (basketball players had more weigh about, 5 kg on average and height (basketball players are taller, about 7 cm on average. During the anthropometric measurements of thoraxdeformities of the spinal column have been observed which affect the deformation of the thorax. Of the 20 players one has a deformity of the spinal column, and out of the same number of physically inactive studentseven 12 have deformed spine.Conclusion: Basketball has a positive effect on the proper growth and development

  1. Allelic Diversity of Major Histocompatibility Complex Class II DRB Gene in Indian Cattle and Buffalo

    Directory of Open Access Journals (Sweden)

    Sachinandan De

    2011-01-01

    Full Text Available The present study was conducted to study the diversity of MHC-DRB3 alleles in Indian cattle and buffalo breeds. Previously reported BoLA-DRB exon 2 alleles of Indian Zebu cattle, Bos taurus cattle, buffalo, sheep, and goats were analyzed for the identities and divergence among various allele sequences. Comparison of predicted amino acid residues of DRB3 exon 2 alleles with similar alleles from other ruminants revealed considerable congruence in amino acid substitution pattern. These alleles showed a high degree of nucleotide and amino acid polymorphism at positions forming peptide-binding regions. A higher rate of nonsynonymous substitution was detected at the peptide-binding regions, indicating that BoLA-DRB3 allelic sequence evolution was driven by positive selection.

  2. Living in a Box or Call of the Wild? Revisiting Lifetime Inactivity and Sarcopenia

    Science.gov (United States)

    Hindle, Allyson

    2011-01-01

    Abstract Significance The accepted effects of aging in mammalian skeletal muscle are progressive atrophy and weakening, or sarcopenia. Canonical hallmarks of aging in skeletal muscle include a reduction in muscle fiber cross-sectional area, a loss in muscle fibers through apoptosis and denervation, and infiltration of connective tissue or fibrosis. Emerging thought suggests that pro-inflammatory signaling and oxidative stress may contribute to sarcopenia. Critical Issues Unfortunately, most of the mammalian models used to examine and understand sarcopenia are confounded by the pervasive influence of prolonged physical inactivity. Further, the potential for underlying metabolic disorder and chronic disease (e.g., type II diabetes and cardiovascular disease) may accelerate skeletal muscle wasting. Because physical inactivity may share elevated pro-inflammatory (tumor necrosis factor-alpha and inducible nitric oxide synthase) and insufficient stress response (insulin-like growth factor-1 [IGF-1], heat-shock protein 25 [HSP25], NAD-dependent deacetylase sirtuin-3 [SIRT-3], and peroxisome proliferator-activated receptor-gamma coactivator 1[PGC-1α]) signaling with aging and chronic disease, it is critical to distinguish true aging from chronic inactivity or underlying disease. Conversely, the efficacy of exercise and caloric restrictive interventions against sarcopenia in aging populations appears highly effective when (a) conducted across the lifespan, or (b) at higher intensities when commenced in middle age or later. Recent Advances While the prospective mechanisms by which exercise or daily activity provide have not been elucidated, upregulation of HSPs, PGC-1α, and IGF-1 may ameliorate inflammatory signaling, apoptosis, and sarcopenia. Limited data indicate that the aging phenotype exhibited by mammals living in their natural habitat (Weddell seal and shrews) express limited apoptosis and fiber atrophy, whereas significant collagen accumulation remains. In

  3. Structural characteristics of active and inactive glutamate dehydrogenases from the hyperthermophile Pyrobaculum islandicum.

    Science.gov (United States)

    Ohshima, Toshihisa

    2012-01-01

    The enzymes from hyperthermophiles are generally extremely thermostable and lose little or no activity during long periods under a variety conditions. This high stability is very attractive, in that it gives the enzymes potential for use in numerous bioprocesses. My research group has investigated this high stability from the viewpoint of the relationship between function and structure. In this review, I describe the molecular mechanism underlying the extreme stability of unboiled NAD-dependent glutamate dehydrogenase from the hyperthermophile Pyrobaculum islandicum. I also describe the activation of the inactive recombinant enzyme produced in mesophilic Escherichia coli from the viewpoint of the relationship between structure and activity.

  4. Radium-226 in plants and substrates at inactive uranium mill sites in the southwestern United States

    International Nuclear Information System (INIS)

    Marple, M.L.; Potter, L.D.

    1982-01-01

    The uptake and translocation of contaminants from uranium mill tailings piles and other similar wastes could be an important transport mechanism of these contaminants into the environment. The content of Ra-226, the radionuclide of most concern in this context, was investigated in plants growing on inactive uranium mill tailings sites in Four Corners Region of the southwestern United States and in plants grown under greenhouse conditions with minimal surficial contamination. This study provides a basis for estimating intake levels for herbivores and for evaluating transfer coefficients

  5. Tank Waste Remediation System Inactive Miscellaneous Underground Storage Tanks Program Plan

    International Nuclear Information System (INIS)

    Gustavson, R.D.

    1995-12-01

    The Program Management Plan (PMP) describes the approach that will be used to manage the Tank Waste Remediation System (TWRS) Inactive Miscellaneous Underground Storage Tank (IMUST) Program. The plan describes management, technical, and administrative control systems that will be used to plan and control the IMUSTs Program performance. The technical data to determine the IMUSTs status for inclusion in the Single Shell Tank Farm Controlled Clean and Stable (CCS) Program. The second is to identify and implement surveillance, characterization, stabilization, and modifications to support CCS prior to final closure

  6. Expression of genes from the human active and inactive X chromosomes.

    OpenAIRE

    Brown, C J; Carrel, L; Willard, H F

    1997-01-01

    X-chromosome inactivation results in the cis-limited inactivation of many, but not all, of the genes on one of the pair of X chromosomes in mammalian females. In addition to the genes from the pseudoautosomal region, which have long been anticipated to escape inactivation, genes from several other regions of the human X chromosome have now been shown to escape inactivation and to be expressed from both the active and inactive X chromosomes. The growing number of genes escaping inactivation em...

  7. Living in a box or call of the wild? Revisiting lifetime inactivity and sarcopenia.

    Science.gov (United States)

    Lawler, John M; Hindle, Allyson

    2011-11-01

    The accepted effects of aging in mammalian skeletal muscle are progressive atrophy and weakening, or sarcopenia. Canonical hallmarks of aging in skeletal muscle include a reduction in muscle fiber cross-sectional area, a loss in muscle fibers through apoptosis and denervation, and infiltration of connective tissue or fibrosis. Emerging thought suggests that pro-inflammatory signaling and oxidative stress may contribute to sarcopenia. Unfortunately, most of the mammalian models used to examine and understand sarcopenia are confounded by the pervasive influence of prolonged physical inactivity. Further, the potential for underlying metabolic disorder and chronic disease (e.g., type II diabetes and cardiovascular disease) may accelerate skeletal muscle wasting. Because physical inactivity may share elevated pro-inflammatory (tumor necrosis factor-alpha and inducible nitric oxide synthase) and insufficient stress response (insulin-like growth factor-1 [IGF-1], heat-shock protein 25 [HSP25], NAD-dependent deacetylase sirtuin-3 [SIRT-3], and peroxisome proliferator-activated receptor-gamma coactivator 1[PGC-1α]) signaling with aging and chronic disease, it is critical to distinguish true aging from chronic inactivity or underlying disease. Conversely, the efficacy of exercise and caloric restrictive interventions against sarcopenia in aging populations appears highly effective when (a) conducted across the lifespan, or (b) at higher intensities when commenced in middle age or later. While the prospective mechanisms by which exercise or daily activity provide have not been elucidated, upregulation of HSPs, PGC-1α, and IGF-1 may ameliorate inflammatory signaling, apoptosis, and sarcopenia. Limited data indicate that the aging phenotype exhibited by mammals living in their natural habitat (Weddell seal and shrews) express limited apoptosis and fiber atrophy, whereas significant collagen accumulation remains. In addition, aging shrews displayed a remarkable ability to

  8. G6PD deficiency alleles in a malaria-endemic region in the Western Brazilian Amazon.

    Science.gov (United States)

    Dombrowski, Jamille G; Souza, Rodrigo M; Curry, Jonathan; Hinton, Laura; Silva, Natercia R M; Grignard, Lynn; Gonçalves, Ligia A; Gomes, Ana Rita; Epiphanio, Sabrina; Drakeley, Chris; Huggett, Jim; Clark, Taane G; Campino, Susana; Marinho, Claudio R F

    2017-06-15

    Plasmodium vivax parasites are the predominant cause of malaria infections in the Brazilian Amazon. Infected individuals are treated with primaquine, which can induce haemolytic anaemia in glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals and may lead to severe and fatal complications. This X-linked disorder is distributed globally and is caused by allelic variants with a geographical distribution that closely reflects populations exposed historically to endemic malaria. In Brazil, few studies have reported the frequency of G6PD deficiency (G6PDd) present in malaria-endemic areas. This is particularly important, as G6PDd screening is not currently performed before primaquine treatment. The aim of this study was to determine the prevalence of G6PDd in the region of Alto do Juruá, in the Western Brazilian Amazon, an area characterized by a high prevalence of P. vivax infection. Five-hundred and sixteen male volunteers were screened for G6PDd using the fluorescence spot test (Beutler test) and CareStart™ G6PD Biosensor system. Demographic and clinical-epidemiological data were acquired through an individual interview. To assess the genetic basis of G6PDd, 24 SNPs were genotyped using the Kompetitive Allele Specific PCR assay. Twenty-three (4.5%) individuals were G6PDd. No association was found between G6PDd and the number of malaria cases. An increased risk of reported haemolysis symptoms and blood transfusions was evident among the G6PDd individuals. Twenty-two individuals had the G6PDd A(-) variant and one the G6PD A(+) variant. The Mediterranean variant was not present. Apart from one polymorphism, almost all SNPs were monomorphic or with low frequencies (0-0.04%). No differences were detected among ethnic groups. The data indicates that ~1/23 males from the Alto do Juruá could be G6PD deficient and at risk of haemolytic anaemia if treated with primaquine. G6PD A(-) is the most frequent deficiency allele in this population. These results concur

  9. Low frequency of the scrapile resistance-associated allele and presence of lysine-171 allele of the prion protein gene in Italian Biellese ovine breed

    NARCIS (Netherlands)

    Acutis, P.L.; Sbaiz, L.; Verburg, F.J.; Riina, M.V.; Ru, G.; Moda, G.; Caramelli, M.; Bossers, A.

    2004-01-01

    Frequencies of polymorphisms at codons 136, 154 and 171 of the prion protein (PrP) gene were studied in 1207 pure-bred and cross-bred Italian Biellese rams, a small ovine breed of about 65 000 head in Italy. Aside from the five most common alleles (VRQ, ARQ, ARR, AHQ and ARH), the rare ARK allele

  10. Diversity of MHC class I alleles in Spheniscus humboldti.

    Science.gov (United States)

    Kikkawa, Eri; Tanaka, Masafumi; Naruse, Taeko K; Tsuda, Tomi T; Tsuda, Michio; Murata, Koichi; Kimura, Akinori

    2017-02-01

    The major histocompatibility complex locus (MHC) is a gene region related to immune response and exhibits a remarkably great diversity. We deduced that polymorphisms in MHC genes would help to solve several issues on penguins, including classification, phylogenetic relationship, and conservation. This study aimed to elucidate the structure and diversity of the so far unknown MHC class I gene in a penguin species. The structure of an MHC class I gene from the Humboldt penguin (Spheniscus humboldti) was determined by using an inverse PCR method. We designed PCR primers to directly determine nucleotide sequences of PCR products from the MHC class I gene and to obtain recombinant clones for investigating the diversity of the MHC class I gene in Humboldt penguins. A total of 24 MHC class I allele sequences were obtained from 40 individuals. Polymorphisms were mainly found in exons 2 and 3, as expected from the nature of MHC class I genes in vertebrate species including birds and mammals. Phylogenetic analyses of MHC class I alleles have revealed that the Humboldt penguin is closely related to the Red Knot (Calidris canutus) belonging to Charadriiformes.

  11. Inbreeding and PKU allele frequency: Estimating by microsatellite approaches.

    Science.gov (United States)

    Santos, Luciana L; da Fonseca, Cleusa G; Vaintraub, Marco T; Vaintraub, Patricia; Januário, José N; de Aguiar, Marcos J B; Raquel Santos Carvalho, Maria

    2010-01-01

    Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q(2)). However, these estimates can be strongly biased due to inbreeding in the population. The purpose of this study was to gain a better understanding of how inbreeding in the Minas Gerais State population affects phenylketonuria (PKU) incidence in the state and to determine the inbreeding coefficient based on microsatellites. Inbreeding coefficients of samples of 104 controls and 76 patients with PKU were estimated through a microsatellite approach. Besides, the amount and distribution of genetic variation within and among patients with PKU and control samples were characterized. No genetic differentiation was observed between the samples. However, the Fis value found for samples of patients with PKU (0.042) was almost 15 times higher than that found among controls (0.003). When corrected by the inbreeding coefficient found among the controls, the PKU allele frequency decreased to 0.0057. The results enables us to infer that at least 35% of the PKU recessive homozygotes from the Minas Gerais population could be due to consanguineous marriages and suggest that microsatellites can be an useful approach to estimate inbreeding coefficients. (c) 2010 Wiley-Liss, Inc.

  12. A genetic model of melanoma tumorigenesis based on allelic losses

    Energy Technology Data Exchange (ETDEWEB)

    Hayward, N.K.; Palmer, J.M.; Walters, M.K. [Queensland Institute of Medical Research, Herston (Australia)] [and others

    1994-09-01

    Previous karyotypic studies have indicated a possible series of non-random chromosomal events involved in the progression of melanoma. We sought to define a model of melanocyte tumorigenesis by studying allelic deletions of polymorphic simple tandem repeat markers mapping to chromosome 1, 6q, 7, 9p, 10, 11, 17, and 21 in thirty matched pairs of melanoma and constitutional DNAs. The most frequent and earliest deletions were found on 9p (57%) and 10q (32%) and with the exception of one case, no sample has loss of markers on another chromosome without concomitant loss of markers on 9p and/or 10q. Losses on 6q were also a frequent (32%) event that sometimes occurred in primary melanomas, whereas losses of loci on distal 1p (26%) or 11q (26%) occurred only in metastic melanomas. A background rate (0-17%) of allele loss was seen on chromosomes 7, 17, and 21. Homozygous deletions in a panel of 31 melanoma cell lines were only detected for markers on 9p (4 cases). These data strongly support the previous model of melanoma tumorigenesis based primarily on karyotypic findings in melanocytic lesions. However, we have been able to further augment the model by delimiting the regions of loss on 10q to a region distal to D10S254, and on 1p, to between D1S243 and D1S160.

  13. Characterization of ROP18 alleles in human toxoplasmosis.

    Science.gov (United States)

    Sánchez, Víctor; de-la-Torre, Alejandra; Gómez-Marín, Jorge Enrique

    2014-04-01

    The role of the virulent gene ROP18 polymorphisms is not known in human toxoplasmosis. A total of 320 clinical samples were analyzed. In samples positive for ROP18 gene, we determined by an allele specific PCR, if patients got the upstream insertion positive ROP18 sequence Toxoplasma strain (mouse avirulent strain) or the upstream insertion negative ROP18 sequence Toxoplasma strain (mouse virulent strain). We designed an ELISA assay for antibodies against ROP18 derived peptides from the three major clonal lineages of Toxoplasma. 20 clinical samples were of quality for ROP18 allele analysis. In patients with ocular toxoplasmosis, a higher inflammatory reaction on eye was associated to a PCR negative result for the upstream region of ROP18. 23.3%, 33% and 16.6% of serums from individuals with ocular toxoplasmosis were positive for type I, type II and type III ROP18 derived peptides, respectively but this assay was affected by cross reaction. The absence of Toxoplasma ROP18 promoter insertion sequence in ocular toxoplasmosis was correlated with severe ocular inflammatory response. Determination of antibodies against ROP18 protein was not useful for serotyping in human toxoplasmosis. © 2013.

  14. Searching for alleles associated with complicated outcomes after burn injury.

    Science.gov (United States)

    Barber, Robert C; Diaz-Arrastia, Ramon; Purdue, Gary F

    2007-01-01

    Sepsis is a serious and growing health problem among patients admitted to intensive care units. When accompanied by organ failure, sepsis carries a 30-50% case-fatality rate. Although our understanding of burn pathophysiology has grown in recent years, we are still unable to identify accurately patients who are at increased risk for infectious complications and death. Genetic predisposition is likely to explain a portion of this variation. Understanding which genes and allelic variants contribute to disease risk would increase our ability to predict who is at increased risk and intervene accordingly, as well as identify molecular targets for novel and individualized therapies. Several obstacles exist to identification of which specific alleles and loci contribute to patient risk, including achievement of sufficient statistical power, population admixture and epistatic interaction among multiple genes and environmental factors. Although increasing sample size will resolve most, if not all, of these issues, slow patient accrual often makes this solution impractical for a single institution within a reasonable timeframe. This situation is complicated by the fact that traditional analysis methods perform poorly in the face of data sparseness. Identification of risk factors for severe sepsis and death after burn injury will likely require collaborative patient enrollment as well as development of advanced analytical methodologies. While overcoming these obstacles may prove difficult, the effort is warranted, as the ultimate benefit to patients is considerable.

  15. Acceleration of flowering in Arabidopsis thaliana by Cape Verde Islands alleles of FLOWERING H is dependent on the floral promoter FD.

    Science.gov (United States)

    Seedat, Noorina; Dinsdale, Adrian; Ong, Eng Kok; Gendall, Anthony Richard

    2013-07-01

    Flowering time in the model plant Arabidopsis thaliana is regulated by both external environmental signals and internal developmental pathways. Natural variation at the FLOWERING H (FLH) locus has previously been described, with alleles present in the Cape Verde Islands accession causing early flowering, particularly after vernalization. The mechanism of FLH-induced early flowering is not understood. Here, the integration of FLH activity into the known flowering time pathways is described using molecular and genetic approaches. The identification of molecular markers that co-segregated with the FLH locus allowed the generation of multiple combinations of FLH alleles with mutations in flowering time genes in different flowering pathways. Combining an early flowering FLH allele with mutations in vernalization pathway genes that regulate FLC expression revealed that FLH appears to act in parallel to FLC. Surprisingly, the early flowering allele of FLH requires the floral integrator FD, but not FT, to accelerate flowering. This suggests a model in which some alleles of FLH are able to affect the FD-dependent activity of the floral activator complex.

  16. R331W Missense Mutation of Oncogene YAP1 Is a Germline Risk Allele for Lung Adenocarcinoma With Medical Actionability.

    Science.gov (United States)

    Chen, Hsuan-Yu; Yu, Sung-Liang; Ho, Bing-Ching; Su, Kang-Yi; Hsu, Yi-Chiung; Chang, Chi-Sheng; Li, Yu-Cheng; Yang, Shi-Yi; Hsu, Pin-Yen; Ho, Hao; Chang, Ya-Hsuan; Chen, Chih-Yi; Yang, Hwai-I; Hsu, Chung-Ping; Yang, Tsung-Ying; Chen, Kun-Chieh; Hsu, Kuo-Hsuan; Tseng, Jeng-Sen; Hsia, Jiun-Yi; Chuang, Cheng-Yen; Yuan, Shinsheng; Lee, Mei-Hsuan; Liu, Chia-Hsin; Wu, Guan-I; Hsiung, Chao A; Chen, Yuh-Min; Wang, Chih-Liang; Huang, Ming-Shyan; Yu, Chong-Jen; Chen, Kuan-Yu; Tsai, Ying-Huang; Su, Wu-Chou; Chen, Huei-Wen; Chen, Jeremy J W; Chen, Chien-Jen; Chang, Gee-Chen; Yang, Pan-Chyr; Li, Ker-Chau

    2015-07-10

    Adenocarcinoma is the most dominant type of lung cancer in never-smoker patients. The risk alleles from genome-wide association studies have small odds ratios and unclear biologic roles. Here we have taken an approach featuring suitable medical actionability to identify alleles with low population frequency but high disease-causing potential. Whole-genome sequencing was performed for a family with an unusually high density of lung adenocarcinoma with available DNA from the affected mother, four affected daughters, and one nonaffected son. Candidate risk alleles were confirmed by matrix-assisted laser desorption ionization time of flight mass spectroscopy. Validation was conducted in an external cohort of 1,135 participants without cancer and 1,312 patients with lung adenocarcinoma. Family follow-ups were performed by genotyping the relatives of the original proband and the relatives of the identified risk-allele carriers. Low-dose computed tomography scans of the chest were evaluated for lung abnormalities. YAP1 R331W missense mutation from the original family was identified and validated in the external controls and the cohort with lung adenocarcinoma. The YAP1 mutant-allele carrier frequency was 1.1% in patients with lung adenocarcinoma compared with 0.18% in controls (P = .0095), yielding an odds ratio (adjusted for age, sex, and smoking status) of 5.9. Among the relatives, YAP1-mutant carriers have overwhelmingly higher frequencies of developing lung adenocarcinoma or ground-glass opacity lung lesions than those who do not carry the mutation (10:0 v 1:7; P < .001). YAP1 mutation was shown to increase the colony formation ability and invasion potential of lung cancer cells. These results implicated YAP1 R331W as an allele predisposed for lung adenocarcinoma with high familial penetrance. Low-dose computed tomography scans may be recommended to this subpopulation, which is at high risk for lung cancer, for personalized prevention and health management. © 2015 by

  17. Null allele, allelic dropouts or rare sex detection in clonal organisms: simulations and application to real data sets of pathogenic microbes.

    Science.gov (United States)

    Séré, Modou; Kaboré, Jacques; Jamonneau, Vincent; Belem, Adrien Marie Gaston; Ayala, Francisco J; De Meeûs, Thierry

    2014-07-15

    Pathogens and their vectors are organisms whose ecology is often only accessible through population genetics tools based on spatio-temporal variability of molecular markers. However, molecular tools may present technical difficulties due to the masking of some alleles (allelic dropouts and/or null alleles), which tends to bias the estimation of heterozygosity and thus the inferences concerning the breeding system of the organism under study. This is especially critical in clonal organisms in which deviation from panmixia, as measured by Wright's FIS, can, in principle, be used to infer both the extent of clonality and structure in a given population. In particular, null alleles and allelic dropouts are locus specific and likely produce high variance of Wright's FIS across loci, as rare sex is expected to do. In this paper we propose a tool enabling to discriminate between consequences of these technical problems and those of rare sex. We have performed various simulations of clonal and partially clonal populations. We introduce allelic dropouts and null alleles in clonal data sets and compare the results with those that exhibit increasing rates of sexual recombination. We use the narrow relationship that links Wright's FIS to genetic diversity in purely clonal populations as assessment criterion, since this relationship disappears faster with sexual recombination than with amplification problems of certain alleles. We show that the relevance of our criterion for detecting poorly amplified alleles depends partly on the population structure, the level of homoplasy and/or mutation rate. However, the interpretation of data becomes difficult when the number of poorly amplified alleles is above 50%. The application of this method to reinterpret published data sets of pathogenic clonal microbes (yeast and trypanosomes) confirms its usefulness and allows refining previous estimates concerning important pathogenic agents. Our criterion of superimposing between the FIS

  18. Flavonoid-induced conversion of catalase to its inactive form--Compound II.

    Science.gov (United States)

    Krych, J; Gebicki, J L; Gebicka, L

    2014-11-01

    Flavonoids (FlaOHs), plant polyphenols, are ubiquitous components of human diet and are known as antioxidants. However, their prooxidant activity has also been reported. We have recently found that FlaOHs inhibit catalase, the heme enzyme which catalyzes the decomposition of hydrogen peroxide (H2O2) into water and molecular oxygen. The catalytic cycle proceeds with the formation of the intermediate, Compound I (Cpd I), an oxoferryl porphyrin π-cation radical, the two-electron oxidation product of a heme group. Under conditions of low H2O2 fluxes and in the presence of an appropriate substrate, Cpd I can undergo one-electron reduction to inactive Compound II (Cpd II), oxoferryl derivative without radical site. Here we show that in vitro, under low fluxes of H2O2, FlaOHs reduce Cpd I to inactive Cpd II. Measurable amounts of Cpd II can be formed even in the presence of reduced nicotinamide adenine dinucleotide phosphate (NADPH) at concentration comparable with the investigated FlaOHs. Possible mechanisms of electron transfer from FlaOH molecule to the heme are discussed.

  19. On conditional residual lifetime and conditional inactivity time of k-out-of-n systems

    International Nuclear Information System (INIS)

    Tavangar, Mahdi; Bairamov, Ismihan

    2015-01-01

    In designing structures of technical systems, the reliability engineers often deal with the reliability analysis of coherent systems. Coherent system has monotone structure function and all components of the system are relevant. This paper considers some particular models of coherent systems having identical components with independent lifetimes. The main purpose of the paper is to study conditional residual lifetime of coherent system, given that at a fixed time certain number of components have failed but still there are some functioning components. Different aging and stochastic properties of variables connected with the conditional residual lifetimes of the coherent systems are obtained. An expression for the parent distribution in terms of conditional mean residual lifetime is provided. The similar result is obtained for the conditional mean inactivity time of the failed components of coherent system. The conditional mean inactivity time of failed components presents an interest in many engineering applications where the reliability of system structure is important for designing and constructing of systems. Some illustrative examples with given particular distributions are also presented. - Highlights: • Comparisons of conditional residual lifetime of k-out-of-n systems are derived. • The behavior of the coherent system is explored for IHR distributions. • The parent distribution is expressed in terms of conditional MRL and MIT. • Some illustrative examples are given to clarify the results of the paper.

  20. Split2 Protein-Ligation Generates Active IL-6-Type Hyper-Cytokines from Inactive Precursors.

    Science.gov (United States)

    Moll, Jens M; Wehmöller, Melanie; Frank, Nils C; Homey, Lisa; Baran, Paul; Garbers, Christoph; Lamertz, Larissa; Axelrod, Jonathan H; Galun, Eithan; Mootz, Henning D; Scheller, Jürgen

    2017-12-15

    Trans-signaling of the major pro- and anti-inflammatory cytokines Interleukin (IL)-6 and IL-11 has the unique feature to virtually activate all cells of the body and is critically involved in chronic inflammation and regeneration. Hyper-IL-6 and Hyper-IL-11 are single chain designer trans-signaling cytokines, in which the cytokine and soluble receptor units are trapped in one complex via a flexible peptide linker. Albeit, Hyper-cytokines are essential tools to study trans-signaling in vitro and in vivo, the superior potency of these designer cytokines are accompanied by undesirable stress responses. To enable tailor-made generation of Hyper-cytokines, we developed inactive split-cytokine-precursors adapted for posttranslational reassembly by split-intein mediated protein trans-splicing (PTS). We identified cutting sites within IL-6 (E 134 /S 135 ) and IL-11 (G 116 /S 117 ) and obtained inactive split-Hyper-IL-6 and split-Hyper-IL-11 cytokine precursors. After fusion with split-inteins, PTS resulted in reconstitution of active Hyper-cytokines, which were efficiently secreted from transfected cells. Our strategy comprises the development of a background-free cytokine signaling system from reversibly inactivated precursor cytokines.

  1. Any link between sexual inactivity and treadle pump performance characteristics: The Malawi case

    Science.gov (United States)

    Joseph, Chidanti-Malunga; Yamikani, Malunga

    In mitigating the effects of climate change in Malawi, government promotes the use of low cost irrigation technologies to small-scale farmers, especially in wetlands where water is available. The treadle pump is one such technology. The pump is a manual water lifting device operated by feet. Although the technology has been widely accepted by small-scale farmers, there are documented reports that some farmers abandon the technology, preferring other technologies such as river diversion. One theory for the abandonment is that female farmers claim that the technology makes their male counterparts sexually inactive. This research seeks to find an explanation to the misconception. The study analyzed the physical characteristics of the treadle pump and its users. The results show that the technology is male-dominated (30% were females out of a sample of 40). The results also show that the technology is labor-intensive with very small discharge rates (an average of 0.78 l/s) achieved regardless of the BMI of the operator. With such small discharge rates, in order to fulfill irrigation requirements of a crop, the operator has to pump for long hours. This exercise makes men naturally tired, perhaps making them sexually inactive as well.

  2. Cold-active alkaline phosphatase is irreversibly transformed into an inactive dimer by low urea concentrations.

    Science.gov (United States)

    Hjörleifsson, Jens Guðmundur; Ásgeirsson, Bjarni

    2016-07-01

    Alkaline phosphatase is a homodimeric metallo-hydrolase where both Zn(2+) and Mg(2+) are important for catalysis and stability. Cold-adapted alkaline phosphatase variants have high activity at low temperatures and lower thermal stability compared with variants from mesophilic hosts. The instability, and thus inactivation, could be due to loose association of the dimers and/or loosely bound Mg(2)(+) in the active site, but this has not been studied in detail for the cold-adapted variants. Here, we focus on using the intrinsic fluorescence of Trp in alkaline phosphatase from the marine bacterium Vibrio splendidus (VAP) to probe for dimerization. Trp→Phe substitutions showed that two out of the five native Trp residues contributed mostly to the fluorescence emission. One residue, 15Å away from the active site (W460) and highly solvent excluded, was phosphorescent and had a distant role in substrate binding. An additional Trp residue was introduced to the dimer interface to act as a possible probe for dimerization. Urea denaturation curves indicated that an inactive dimer intermediate, structurally equivalent to the native state, was formed before dimer dissociation took place. This is the first example of the transition of a native dimer to an inactive dimer intermediate for alkaline phosphatase without using mutagenesis, ligands, or competitive inhibition. Copyright © 2016 Elsevier B.V. All rights reserved.

  3. Overweight, obesity, and inactivity and urban design in rapidly growing Chinese cities.

    Science.gov (United States)

    Day, Kristen; Alfonzo, Mariela; Chen, Yufei; Guo, Zhan; Lee, Karen K

    2013-05-01

    China faces rising rates of overweight, obesity, and physical inactivity among its citizens. Risk is highest in China's rapidly growing cities and urban populations. Current urban development practices and policies in China heighten this risk. These include policies that support decentralization in land use planning; practices of neighborhood gating; and policies and practices tied to motor vehicle travel, transit planning, and bicycle and pedestrian infrastructure. In this paper, we review cultural, political, and economic issues that influence overweight, obesity, and inactivity in China. We examine key urban planning features and policies that shape urban environments that may compromise physical activity as part of everyday life, including walking and bicycling. We review the empirical research to identify planning and design strategies that support physical activity in other high-density cities in developing and developed countries. Finally, we identify successful strategies to increase physical activity in another growing, high-density city - New York City - to suggest strategies that may have relevance for rapidly urbanizing Chinese cities. Copyright © 2013 Elsevier Ltd. All rights reserved.

  4. Relationships among physical inactivity, deconditioning, and walking impairment in persons with multiple sclerosis.

    Science.gov (United States)

    Sandroff, Brian M; Klaren, Rachel E; Motl, Robert W

    2015-04-01

    We have previously proposed a conceptual model of physical inactivity, physiological deconditioning, and walking impairment in persons with multiple sclerosis (MS) that suggests engaging in physical activity and improving physiological conditioning may lead to improvements in walking performance. This cross-sectional study examined the nature of associations among physical activity, aerobic capacity, and walking performance in persons with MS and healthy controls. The sample included 31 persons with MS and 31 controls matched by age, sex, height, and weight. Participants completed the 6-minute walk (6MW), wore an ActiGraph model GT3X accelerometer for 7 days as an objective measure of physical activity (expressed as time spent in moderate-to-vigorous physical activity [MVPA]), and completed an incremental exercise test on a cycle ergometer as a measure of aerobic capacity (VO2peak). Hierarchical linear regression analyses indicated that MVPA and VO2peak partially explained group differences in 6MW performance (R = 0.782), although group remained a significant predictor of 6MW performance (β = 0.304; P deconditioning, perhaps occurring as a result of physical inactivity, may explain variability in walking impairment in persons with MS. These findings support the design and implementation of targeted interventions for improving walking impairment in this population. for more insights from the authors (see Supplemental Digital Content 1, http://links.lww.com/JNPT/A93).

  5. Frequency of dental caries in active and inactive systemic lupus erythematous patients: salivary and bacterial factors.

    Science.gov (United States)

    Loyola Rodriguez, J P; Galvan Torres, L J; Martinez Martinez, R E; Abud Mendoza, C; Medina Solis, C E; Ramos Coronel, S; Garcia Cortes, J O; Domínguez Pérez, R A

    2016-10-01

    The objective of this study was to determine dental caries frequency and to analyze salivary and bacterial factors associated with active and inactive systemic lupus erythematous (SLE) patients. Also, a proposal to identify dental caries by a surface, teeth, and the patient was developed. A cross-sectional, blinded study that included 60 SLE patients divided into two groups of 30 subjects each, according to the Activity Index for Diagnosis of Systemic Lupus Erythematous (SLEDAI). The decayed, missing, and filled teeth (DMFT) index and Integrative Dental Caries Index (IDCI) were used for analyzing dental caries. The saliva variables recorded were: flow, pH, and buffer capacity. The DNA copies of Streptococcus mutans and Streptococcus sobrinus were estimated by real-time PCR. The caries frequency was 85% for SLE subjects (73.3% for inactive systemic lupus erythematous (ISLE) and 100% for active systemic lupus erythematous (ASLE)); DMFT for the SLE group was 12.6 ± 5.7 and the IDCI was (9.8 ± 5.9). The ASLE group showed a salivary flow of 0.65 compared with 0.97 ml/1 min from the ISLE group; all variables mentioned above showed a statistical difference (p dental caries in epidemiological studies. © The Author(s) 2016.

  6. Interaction of anammox bacteria and inactive methanogenic granules under high nitrogen selective pressure.

    Science.gov (United States)

    Ni, Shou-Qing; Fessehaie, Anania; Lee, Po-Heng; Gao, Bao-Yu; Xu, Xing; Sung, Shihwu

    2010-09-01

    Granular anammox reactors usually adopted anaerobic/aerobic granules as source sludge, in which the washout of other species and enrichment of anammox biomass were very slow because of the competition of the coexisting bacteria. In this study, inactive methanogenic granules were proved to be suitable for rapid anammox granulation under high nitrogen concentrations by investigating their interaction with anammox bacteria. The start-up nitrite concentration was significantly higher than the published toxic level for anammox bacteria and other lab-scale studies. The nitrogen loading rate increased from 141 to 480 mg/L/d in 120 days operation with a total nitrogen removal efficiency of 96.0+/-0.6%. Anammox granules with a diameter of 1.3+/-0.4mm were observed over the course of three months. Molecular analysis showed that over 67% of the cells in the anammox granules were anammox bacteria after 90 days. The accommodations and proliferations of anammox bacteria in the inactive methanogenic granules might be the main reason for the high anammox purity in a short period. The important role of the extracellular polymer in the granule structure was observed via morphological observation. Copyright 2010 Elsevier Ltd. All rights reserved.

  7. Detection of (Inactivity Periods in Human Body Motion Using Inertial Sensors: A Comparative Study

    Directory of Open Access Journals (Sweden)

    Miguel Damas

    2012-05-01

    Full Text Available Determination of (inactivity periods when monitoring human body motion is a mandatory preprocessing step in all human inertial navigation and position analysis applications. Distinction of (inactivity needs to be established in order to allow the system to recompute the calibration parameters of the inertial sensors as well as the Zero Velocity Updates (ZUPT of inertial navigation. The periodical recomputation of these parameters allows the application to maintain a constant degree of precision. This work presents a comparative study among different well known inertial magnitude-based detectors and proposes a new approach by applying spectrum-based detectors and memory-based detectors. A robust statistical comparison is carried out by the use of an accelerometer and angular rate signal synthesizer that mimics the output of accelerometers and gyroscopes when subjects are performing basic activities of daily life. Theoretical results are verified by testing the algorithms over signals gathered using an Inertial Measurement Unit (IMU. Detection accuracy rates of up to 97% are achieved.

  8. Impaired cognitive flexibility during sleep deprivation among carriers of the Brain Derived Neurotrophic Factor (BDNF) Val66Met allele.

    Science.gov (United States)

    Grant, Leilah K; Cain, Sean W; Chang, Anne-Marie; Saxena, Richa; Czeisler, Charles A; Anderson, Clare

    2018-02-15

    Accumulating evidence points to a genetic contribution to explain inter-individual vulnerability to sleep deprivation. A functional polymorphism in the BDNF gene, which causes a valine (Val) to methionine (Met) amino acid substitution at Codon 66, has been associated with cognitive impairment, particularly in populations with impaired frontal functioning. We hypothesised that sleep deprivation, which affects frontal function, may lead to cognitive dysfunction in Met allele carriers. To examine this, we investigated, in different BDNF genotypes, the effects of sleep deprivation on cognitive flexibility, as measured by response inhibition using the Stroop Color Naming Task. Thirty healthy, adults of European ancestry, including 12 heterozygous Met allele carriers and 18 Val/Val homozygotes, underwent 30-h of extended wakefulness under constant routine conditions. A computerised Stroop task was administered every 2h. Error rate and reaction times increased with time awake for all individuals. Participants with the Val/Met genotype made more errors on incongruent trials after 20h awake. While Val/Met participants also took significantly longer to respond when inhibiting a prepotent response irrespective of time awake, this was particularly evident during the biological night. Our study shows that carriers of the BDNF Met allele are more vulnerable to the impact of prolonged wakefulness and the biological night on a critical component of executive function, as measured by response inhibition on the Stroop task. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Distribution of DRB1 and DQB1 HLA class II alleles in occupational asthma due to western red cedar.

    Science.gov (United States)

    Horne, C; Quintana, P J; Keown, P A; Dimich-Ward, H; Chan-Yeung, M

    2000-05-01

    Occupational asthma caused by western red cedar is a common problem in sawmill industries. The objective of this study was to examine a possible association of human leukocyte antigen (HLA) class II genetic markers with susceptibility or resistance to western red cedar induced asthma. The distribution of DRB1 and DQB1 HLA class II alleles and DRB1-DQB1 haplotypes was studied in 56 Caucasian patients with proven red cedar asthma and 63 healthy Caucasian control subjects exposed to red cedar dust. DRB1 and DQB1 high resolution typing was performed by the polymerase chain reaction-based method. Patients with red cedar asthma had a higher frequency of HLA DQB1*0603 and DQB1*0302 alleles compared to a group of healthy exposed control subjects and a reduced frequency of DQB1*0501 allele. The frequency of the DRB1*0401-DQB1* 0302 haplotype was increased and the DRB1*0101-DQB1*0501 haplotype was reduced. These findings suggest that genetic factors such as human leukocyte antigen class II antigens may be associated with susceptibility or resistance to development of red cedar asthma.

  10. Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

    Directory of Open Access Journals (Sweden)

    Satoru Noguchi

    2014-01-01

    Full Text Available Ullrich congenital muscular dystrophy (UCMD is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6A1, COL6A2, and COL6A3, are reported to be causative. In the sporadic forms, a heterozygous point mutation causing glycine substitution in the triple helical domain has been identified in higher rate. In this study, we examined the efficacy of siRNAs, which target point mutation site, on specific knockdown toward transcripts from mutant allele and evaluated consequent cellular phenotype of UCMD fibroblasts. We evaluated the effect of siRNAs targeted to silence-specific COL6A1 alleles in UCMD fibroblasts, where simultaneous expression of both wild-type and mutant collagen VI resulted in defective collagen localization. Addition of mutant-specific siRNAs allowed normal extracellular localization of collagen VI surrounding fibroblasts, suggesting selective inhibition of mutant collagen VI. Targeting the single-nucleotide COL6A1 c.850G>A (p.G284R mutation responsible a sporadic autosomal dominant form of UCMD can potently and selectively block expression of mutant collagen VI. These results suggest that allele-specific knockdown of the mutant mRNA can potentially be considered as a therapeutic procedure in UCMD due to COL6A1 point mutations.

  11. A new analysis tool for individual-level allele frequency for genomic studies.

    Science.gov (United States)

    Yang, Hsin-Chou; Lin, Hsin-Chi; Huang, Mei-Chu; Li, Ling-Hui; Pan, Wen-Harn; Wu, Jer-Yuarn; Chen, Yuan-Tsong

    2010-07-05

    Allele frequency is one of the most important population indices and has been broadly applied to genetic/genomic studies. Estimation of allele frequency using genotypes is convenient but may lose data information and be sensitive to genotyping errors. This study utilizes a unified intensity-measuring approach to estimating individual-level allele frequencies for 1,104 and 1,270 samples genotyped with the single-nucleotide-polymorphism arrays of the Affymetrix Human Mapping 100K and 500K Sets, respectively. Allele frequencies of all samples are estimated and adjusted by coefficients of preferential amplification/hybridization (CPA), and large ethnicity-specific and cross-ethnicity databases of CPA and allele frequency are established. The results show that using the CPA significantly improves the accuracy of allele frequency estimates; moreover, this paramount factor is insensitive to the time of data acquisition, effect of laboratory site, type of gene chip, and phenotypic status. Based on accurate allele frequency estimates, analytic methods based on individual-level allele frequencies are developed and successfully applied to discover genomic patterns of allele frequencies, detect chromosomal abnormalities, classify sample groups, identify outlier samples, and estimate the purity of tumor samples. The methods are packaged into a new analysis tool, ALOHA (Allele-frequency/Loss-of-heterozygosity/Allele-imbalance). This is the first time that these important genetic/genomic applications have been simultaneously conducted by the analyses of individual-level allele frequencies estimated by a unified intensity-measuring approach. We expect that additional practical applications for allele frequency analysis will be found. The developed databases and tools provide useful resources for human genome analysis via high-throughput single-nucleotide-polymorphism arrays. The ALOHA software was written in R and R GUI and can be downloaded at http://www.stat.sinica.edu.tw/hsinchou/genetics/aloha/ALOHA.htm.

  12. A new analysis tool for individual-level allele frequency for genomic studies

    Directory of Open Access Journals (Sweden)

    Pan Wen-Harn

    2010-07-01

    Full Text Available Abstract Background Allele frequency is one of the most important population indices and has been broadly applied to genetic/genomic studies. Estimation of allele frequency using genotypes is convenient but may lose data information and be sensitive to genotyping errors. Results This study utilizes a unified intensity-measuring approach to estimating individual-level allele frequencies for 1,104 and 1,270 samples genotyped with the single-nucleotide-polymorphism arrays of the Affymetrix Human Mapping 100K and 500K Sets, respectively. Allele frequencies of all samples are estimated and adjusted by coefficients of preferential amplification/hybridization (CPA, and large ethnicity-specific and cross-ethnicity databases of CPA and allele frequency are established. The results show that using the CPA significantly improves the accuracy of allele frequency estimates; moreover, this paramount factor is insensitive to the time of data acquisition, effect of laboratory site, type of gene chip, and phenotypic status. Based on accurate allele frequency estimates, analytic methods based on individual-level allele frequencies are developed and successfully applied to discover genomic patterns of allele frequencies, detect chromosomal abnormalities, classify sample groups, identify outlier samples, and estimate the purity of tumor samples. The methods are packaged into a new analysis tool, ALOHA (Allele-frequency/Loss-of-heterozygosity/Allele-imbalance. Conclusions This is the first time that these important genetic/genomic applications have been simultaneously conducted by the analyses of individual-level allele frequencies estimated by a unified intensity-measuring approach. We expect that additional practical applications for allele frequency analysis will be found. The developed databases and tools provide useful resources for human genome analysis via high-throughput single-nucleotide-polymorphism arrays. The ALOHA software was written in R and R GUI and

  13. Allele Variants of Enterotoxigenic Escherichia coli Heat-Labile Toxin Are Globally Transmitted and Associated with Colonization Factors

    KAUST Repository

    Joffré, Enrique

    2015-01-15

    Enterotoxigenic Escherichia coli (ETEC) is a significant cause of morbidity and mortality in the developing world. ETEC-mediated diarrhea is orchestrated by heat-labile toxin (LT) and heat-stable toxins (STp and STh), acting in concert with a repertoire of more than 25 colonization factors (CFs). LT, the major virulence factor, induces fluid secretion after delivery of a monomeric ADP-ribosylase (LTA) and its pentameric carrier B subunit (LTB). A study of ETEC isolates from humans in Brazil reported the existence of natural LT variants. In the present study, analysis of predicted amino acid sequences showed that the LT amino acid polymorphisms are associated with a geographically and temporally diverse set of 192 clinical ETEC strains and identified 12 novel LT variants. Twenty distinct LT amino acid variants were observed in the globally distributed strains, and phylogenetic analysis showed these to be associated with different CF profiles. Notably, the most prevalent LT1 allele variants were correlated with major ETEC lineages expressing CS1 + CS3 or CS2 + CS3, and the most prevalent LT2 allele variants were correlated with major ETEC lineages expressing CS5 + CS6 or CFA/I. LTB allele variants generally exhibited more-stringent amino acid sequence conservation (2 substitutions identified) than LTA allele variants (22 substitutions identified). The functional impact of LT1 and LT2 polymorphisms on virulence was investigated by measuring total-toxin production, secretion, and stability using GM1-enzyme-linked immunosorbent assays (GM1-ELISA) and in silico protein modeling. Our data show that LT2 strains produce 5-fold more toxin than LT1 strains (P < 0.001), which may suggest greater virulence potential for this genetic variant. Our data suggest that functionally distinct LT-CF variants with increased fitness have persisted during the evolution of ETEC and have spread globally.

  14. ALADYN - a spatially explicit, allelic model for simulating adaptive dynamics.

    Science.gov (United States)

    Schiffers, Katja H; Travis, Justin Mj

    2014-12-01

    ALADYN is a freely available cross-platform C++ modeling framework for stochastic simulation of joint allelic and demographic dynamics of spatially-structured populations. Juvenile survival is linked to the degree of match between an individual's phenotype and the local phenotypic optimum. There is considerable flexibility provided for the demography of the considered species and the genetic architecture of the traits under selection. ALADYN facilitates the investigation of adaptive processes to spatially and/or temporally changing conditions and the resulting niche and range dynamics. To our knowledge ALADYN is so far the only model that allows a continuous resolution of individuals' locations in a spatially explicit landscape together with the associated patterns of selection.

  15. Clinical manifestations of intermediate allele carriers in Huntington disease

    DEFF Research Database (Denmark)

    Cubo, Esther; Ramos-Arroyo, María A; Martinez-Horta, Saul

    2016-01-01

    into IA carriers (27-35 CAG) and controls (IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. RESULTS: Of 12......OBJECTIVE: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. METHODS: We assessed......,190 participants, 657 (5.38%) with IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores...

  16. Introgressive hybridization: brown bears as vectors for polar bear alleles.

    Science.gov (United States)

    Hailer, Frank

    2015-03-01

    The dynamics and consequences of introgression can inform about numerous evolutionary processes. Biologists have therefore long been interested in hybridization. One challenge, however, lies in the identification of nonadmixed genotypes that can serve as a baseline for accurate quantification of admixture. In this issue of Molecular Ecology, Cahill et al. (2015) analyse a genomic data set of 28 polar bears, eight brown bears and one American black bear. Polar bear alleles are found to be introgressed into brown bears not only near a previously identified admixture zone on the Alaskan Admiralty, Baranof and Chichagof (ABC) Islands, but also far into the North American mainland. Elegantly contrasting admixture levels at autosomal and X chromosomal markers, Cahill and colleagues infer that male-biased dispersal has spread these introgressed alleles away from the Late Pleistocene contact zone. Compared to a previous study on the ABC Island population in which an Alaskan brown bear served as a putatively admixture-free reference, Cahill et al. (2015) utilize a newly sequenced Swedish brown bear as admixture baseline. This approach reveals that brown bears have been impacted by introgression from polar bears to a larger extent (up to 8.8% of their genome), than previously known, including the bear that had previously served as admixture baseline. No evidence for introgression of brown bear into polar bear is found, which the authors argue could be a consequence of selection. Besides adding new exciting pieces to the puzzle of polar/brown bear evolutionary history, the study by Cahill and colleagues highlights that wildlife genomics is moving from analysing single genomes towards a landscape genomics approach. © 2015 John Wiley & Sons Ltd.

  17. The microcephalin ancestral allele in a Neanderthal individual.

    Directory of Open Access Journals (Sweden)

    Martina Lari

    Full Text Available BACKGROUND: The high frequency (around 0.70 worldwide and the relatively young age (between 14,000 and 62,000 years of a derived group of haplotypes, haplogroup D, at the microcephalin (MCPH1 locus led to the proposal that haplogroup D originated in a human lineage that separated from modern humans >1 million years ago, evolved under strong positive selection, and passed into the human gene pool by an episode of admixture circa 37,000 years ago. The geographic distribution of haplogroup D, with marked differences between Africa and Eurasia, suggested that the archaic human form admixing with anatomically modern humans might have been Neanderthal. METHODOLOGY/PRINCIPAL FINDINGS: Here we report the first PCR amplification and high-throughput sequencing of nuclear DNA at the microcephalin (MCPH1 locus from Neanderthal individual from Mezzena Rockshelter (Monti Lessini, Italy. We show that a well-preserved Neanderthal fossil dated at approximately 50,000 years B.P., was homozygous for the ancestral, non-D, allele. The high yield of Neanderthal mtDNA sequences of the studied specimen, the pattern of nucleotide misincorporation among sequences consistent with post-mortem DNA damage and an accurate control of the MCPH1 alleles in all personnel that manipulated the sample, make it extremely unlikely that this result might reflect modern DNA contamination. CONCLUSIONS/SIGNIFICANCE: The MCPH1 genotype of the Monti Lessini (MLS Neanderthal does not prove that there was no interbreeding between anatomically archaic and modern humans in Europe, but certainly shows that speculations on a possible Neanderthal origin of what is now the most common MCPH1 haplogroup are not supported by empirical evidence from ancient DNA.

  18. Combined portal, splenic and mesenteric venous thrombosis in inactive ulcerative colitis with heterozygous mutation in MTHFR gene: A rare case of thrombophilia

    Directory of Open Access Journals (Sweden)

    Gül Gürsoy

    2011-01-01

    Full Text Available Thrombophilia is a rare but potentially catastrophic phenomenon occurring in patients having tendency of thrombosis. It may lead to serious complications. The etiology of thrombophilia is thought to be multifactorial and related to both acquired and inherited factors. Inflammatory bowel disease is an acquired cause of thrombophilia. Thromboembolic events are seen during inflammatory bowel disease, especially during the active period of the disease. In inflammatory bowel disease, thrombus formation in portal, splenic and mesenteric veins are not common. Besides, the association of genetic disorders related to metabolism of homocysteine with inflammatory bowel disease has been evidenced, especially in Crohn disease and rarely in ulcerative colitis. We present a rare case of ulcerative colitis in association with combined portal, splenic and mesenteric vein thrombosis. The patient was recently diagnosed with the disease which was in the inactive period. Interestingly, our patient was also heterozygous for the mutation in methylenetetrahydrofolate reductase (MTHFR gene.

  19. Physical inactivity prevalence and trends among Mexican adults: results from the National Health and Nutrition Survey (ENSANUT) 2006 and 2012.

    Science.gov (United States)

    Medina, Catalina; Janssen, Ian; Campos, Ismael; Barquera, Simón

    2013-11-11

    Lifestyles such as unhealthy diets and the lack of physical activity have been contributed to the increased prevalence of obesity. In 2012, the world health organization published the first global recommendation for physical activity and health. People who do not meet at least 150 minutes of moderate-to-vigorous physical activity are considered to be physically inactive. The prevalence of physical inactivity worldwide is 31%, however there is insufficient data from prevalence and trends of physical inactivity in Mexican population. The purposes of this study are to describe the physical inactivity prevalence and recent trends in Mexican adults and to examine the association between physical inactivity with biologic and sociodemographic characteristics. Representative samples of 17,183 and 10,729 adults (aged 20 to 69 years) who participated in the National Health and Nutrition Survey (ENSANUT) in 2006 and 2012, respectively. Moderate-to-vigorous physical activity (MVPA) was assessed using the short form version of the International Physical Activity Questionnaire (IPAQ), which was administered in face-to-face interviews. Self-reported IPAQ MVPA levels were adjusted using an equation derived from a previous validation study. Participants were considered inactive if they engaged in <150-minutes/week of moderate physical activity or <75 minutes/week of vigorous physical activity according to WHO classification criteria. The prevalence of physical inactivity was significantly higher in 2012 (19.4%, 95% CI: 18.1, 20.7) than in 2006 (13.4%, 95% CI: 12.5, 14.5). Adults in the obese category, 60-69 age group, and those in the highest socioeconomic status tertile were more likely to be physically inactive. The proportion of the Mexican adult population who do not meet the minimum WHO physical activity criteria has increased by 6% points between 2006 and 2012. Given the increasing prevalence of obesity, the aging of the population, and the shift in socioeconomic status in

  20. Narcolepsy-Associated HLA Class I Alleles Implicate Cell-Mediated Cytotoxicity

    Science.gov (United States)

    Tafti, Mehdi; Lammers, Gert J.; Dauvilliers, Yves; Overeem, Sebastiaan; Mayer, Geert; Nowak, Jacek; Pfister, Corinne; Dubois, Valérie; Eliaou, Jean-François; Eberhard, Hans-Peter; Liblau, Roland; Wierzbicka, Aleksandra; Geisler, Peter; Bassetti, Claudio L.; Mathis, Johannes; Lecendreux, Michel; Khatami, Ramin; Heinzer, Raphaël; Haba-Rubio, José; Feketeova, Eva; Baumann, Christian R.; Kutalik, Zoltán; Tiercy, Jean-Marie

    2016-01-01

    Study Objectives: Narcolepsy with cataplexy is tightly associated with the HLA class II allele DQB1*06:02. Evidence indicates a complex contribution of HLA class II genes to narcolepsy susceptibility with a recent independent association with HLA-DPB1. The cause of narcolepsy is supposed be an autoimmune attack against hypocretin-producing neurons. Despite the strong association with HLA class II, there is no evidence for CD4+ T-cell-mediated mechanism in narcolepsy. Since neurons express class I and not class II molecules, the final effector immune cells involved might include class I-restricted CD8+ T-cells. Methods: HLA class I (A, B, and C) and II (DQB1) genotypes were analyzed in 944 European narcolepsy with cataplexy patients and in 4,043 control subjects matched by country of origin. All patients and controls were DQB1*06:02 positive and class I associations were conditioned on DQB1 alleles. Results: HLA-A*11:01 (OR = 1.49 [1.18–1.87] P = 7.0*10−4), C*04:01 (OR = 1.34 [1.10–1.63] P = 3.23*10−3), and B*35:01 (OR = 1.46 [1.13–1.89] P = 3.64*10−3) were associated with susceptibility to narcolepsy. Analysis of polymorphic class I amino-acids revealed even stronger associations with key antigen-binding residues HLA-A-Tyr9 (OR = 1.32 [1.15–1.52] P = 6.95*10−5) and HLA-C-Ser11 (OR = 1.34 [1.15–1.57] P = 2.43*10−4). Conclusions: Our findings provide a genetic basis for increased susceptibility to infectious factors or an immune cytotoxic mechanism in narcolepsy, potentially targeting hypocretin neurons. Citation: Tafti M, Lammers GJ, Dauvilliers Y, Overeem S, Mayer G, Nowak J, Pfister C, Dubois V, Eliaou JF, Eberhard HP, Liblau R, Wierzbicka A, Geisler P, Bassetti CL, Mathis J, Lecendreux M, Khatami R, Heinzer R, Haba-Rubio J, Feketeova E, Baumann CR, Kutalik Z, Tiercy JM. Narcolepsy-associated HLA class I alleles implicate cell-mediated cytotoxicity. SLEEP 2016;39(3):581–587. PMID:26518595