• We compared the genotype frequencies of 45 SNPs in 30 cytokine and chemokine genes in two healthy Chinese populations and one Caucasian population. (johnshopkins.edu)
  • To further characterize common genetic variation in worldwide populations at the IL4 locus, we genotyped 9 SNPs at the IL4 gene in the Human Diversity Panel's (N=1056) individuals from 52 world geographic regions. (johnshopkins.edu)
  • The involvement of single-nucleotide polymorphisms (SNPs) in the TLR genes in infectious pathogenicity, including toxoplasmic retinochoroiditis, points at a possible involvement of TLR alterations in immunity against T. gondii . (springer.com)
  • Six phenotypes were observed as a result of two single nucleotide polymorphisms (SNPs) at amino acid positions 112 and 158. (dovepress.com)
  • 4 Nonetheless, different frequencies of single nucleotide polymorphisms (SNPs) by race have led some investigators to search for genetic differences that cause racial disparities in PTB. (bmj.com)
  • After genotyping and applying various filters, researchers focused on three focal populations, pooling samples according to date (prior to DFTD or after DFTD introduction) in an attempt to identify single nucleotide polymorphisms (SNPs) and associated genes that had extreme allele frequency changes in response to DFTD. (reasons.org)
  • Two candidate regions-one on chromosome 2 and one on chromosome 3-were identified and contained nine unique SNPs that had allele frequency changes at or greater than the 97.5 percentile for the population harboring that specific SNP. (reasons.org)
  • The researchers admit that further investigation is absolutely necessary to identify which genetic changes and which genes may play a functional role in resistance to DFTD, as their findings point merely to disease-responsive SNPs. (reasons.org)
  • However, combinations of snps in the IL-4Ralpha and CD14 genes were found to be significantly associated with DA. (cdc.gov)
  • We performed a large case-control study involving 414 patients and 1199 cancer-free controls to investigate whether single nucleotide polymorphisms (SNPs) in the WDR4 gene are associated with Wilms tumor susceptibility. (jcancer.org)
  • In addition, unconditioned logistic regression analysis was performed, odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association between WDR4 gene SNPs and Wilms tumor susceptibility as well as the strength of the associations. (jcancer.org)
  • However, the degrees of linkage disequilibrium (LD) of the DRD4 7R allele with single nucleotide polymorphisms (SNPs) outside the DRD4 locus have not been evaluated. (discovermagazine.com)
  • Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
  • As part of a project on environmental disasters in minority populations, this study aimed to evaluate differences in the sequence of N-acetyltransferase 2 ( NAT2 ) as a metabolic susceptibility gene in yet unexplored ethnicities. (aacrjournals.org)
  • Conclusion s : The present study suggests that the SLC6A4 rs140701 polymorphism variant may be associated with susceptibility to PD, and 5-HTTLPR polymorphism may be a predictor of response to sertraline in the treatment of PD. (researchsquare.com)
  • C gene polymorphisms to the susceptibility to rheumatoid arthritis (RA). (biomedcentral.com)
  • Haplotypes of IL-4 receptor and CD14 genetic polymorphisms are markers of susceptibility for diisocyanate asthma. (cdc.gov)
  • However, the relationship between polymorphisms in the WDR4 gene and susceptibility to Wilms tumor remains to be fully investigated. (jcancer.org)
  • SNP, single-nucleotide polymorphism. (cdc.gov)
  • Eight single nucleotide polymorphisms (SNP) in the NAT2 coding region and a variant in the 3′ flanking region were analyzed in 290 unrelated Kyrgyz and 140 unrelated Romanians by SNP-specific PCR analysis. (aacrjournals.org)
  • Single nucleotide polymorphisms (snp) for IL-4Ralpha (Ile75Val, Glu400Ala, Glu 576 Arg or Q576R, Cys431Arg), IL-13 (R130Q) and CD14 (C159T) were analyzed to elucidate disease-associated genotypes. (cdc.gov)
  • [ 9 ] They discovered one low frequency single nucleotide polymorphism (SNP) in the noncoding 5' untranslated (UTR) region of the gene RBM8A in 4 of the cases and another low frequency noncoding SNP in the first intron of the same gene. (medscape.com)
  • ABSTRACT This study aimed to evaluate the association of plasma MIF level and -173 G/C single nucleotide polymorphism of the MIF gene with the occurrence, severity and mortality of sepsis patients. (who.int)
  • Up to now there gle nucleotide polymorphism (SNP) late and MacConkey agar (Oxoid) have been no published data about the was identified in the untranslated 5´ plates both aerobically and anaerobi- incidence of sepsis in developing coun- region of the MIF gene at position -173 cally using BD GasPack EZ anaerobic tries. (who.int)
  • We observed low haplotype diversity, yet strikingly different haplotype frequencies between non-African populations, which may indicate different selective pressures on the IL4 gene in different parts of the world. (johnshopkins.edu)
  • The frequency of the IC haplotype (shared between I75V and C159T) was 0.44 in DA + workers vs. 023 among DA- subjects (p=0.04). (cdc.gov)
  • The QC haplotype frequency (Q576R, C159T) of 0.667 in the DA + group was more frequent (0.425) than in the DA- groups (p=0.03). (cdc.gov)
  • Furthermore, the frequency of IQC haplotype (l75V, Q576R, C159T) was 0.44 in DA + workers vs. 0.217 in the DA - group (p=0.04). (cdc.gov)
  • However, when we applied this approach to published sequence data on SLC45A2, another human pigmentation candidate gene, we could readily confirm evidence for positive selection, as previously detected with sequence-based and some haplotype-based tests. (discovermagazine.com)
  • In some cases, the increased risk is related to a group of specific variants in several genes, a combination known as a C3 glomerulopathy at-risk haplotype. (medlineplus.gov)
  • The results have demonstrated that many new variants of the coa gene are present in Minia, Egypt, different from those reported in the previous studies. (hindawi.com)
  • In a previous study Lambert et al 3 sequenced the transcription factor LBP-1c / CP2 / LSF gene, which lies within the chromosome 12 AD locus, in order to identify any genetic variants that may modify the risk of developing AD. (bmj.com)
  • Therefore, the certain variants in the serotonin-related genes, such as serotonin transporter (5-HTT), 5-HT1A receptor (5-HTR1A), 5-HT2A receptor (5HTR2A) and catechol-O-methyltransferase (COMT) genes, may influence 5-HT neurotransmission, and they are good candidates for the study of PD. (researchsquare.com)
  • It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. (amrita.edu)
  • With regard to glucose homeostasis, genetic variants in the IGF2R gene have been shown to be associated with both type 1 [ 5 ] and type 2 diabetes (T2DM) [ 6 ]. (hindawi.com)
  • However, whether circulating IGF2R is determined by IGF2R gene variants and how soluble IGR2R is related to diabetes in adults are currently unknown. (hindawi.com)
  • Highly polymorphic regions (such as HLA genes) are not represented either due to difficulty with designing primers because of the lack of constant regions flanking the variants. (tripod.com)
  • In this translational study, rare sequence variants in MKRN3 , DLK1 , KISS1 , and KISS1R genes were investigated in patients with CPP. (frontiersin.org)
  • In the latter analysis, the status of variants in genes known to be related with pubertal timing was compared with an in-house Cypriot control cohort (n = 43). (frontiersin.org)
  • Three previously described pathogenic MKRN3 variants located in the coding region of the gene were identified in 12 index girls with CPP. (frontiersin.org)
  • Candidate gene variants of the immune system and sudden infant death syndrome. (cdc.gov)
  • Several normal variants (polymorphisms) in complement system-related genes are associated with an increased likelihood of developing C3 glomerulopathy. (medlineplus.gov)
  • The researchers speculate that the cereblon gene on chromosome 2 (a myeloma treatment target in humans) and two genes on chromosome 3, CD146 and THY1 (immune system regulators involved in cell-to-cell communication and cellular adhesion in humans), are likely to be of greatest interest. (reasons.org)
  • Our results indicated that LD of the DRD4 7R allele was not extended compared to SNP alleles with the similar frequency. (discovermagazine.com)
  • A 133 bp fragment, spanning exon 11 of the APC gene was amplified, and Rsal digestion of the PCR product defined the alleles as either homozygous 133 bp (Rsa(-/-)) or 87 and 46 bp (Rsa(+/+)) fragments, and heterozygous (Rsa(+/-)) exhibiting the three fragments. (who.int)
  • Further studies are needed for considering the role of U-II in migraine pathophysiology and for deciding if UTS2 gene may be a novel candidate gene in migraine cases. (nih.gov)
  • CONCLUSIONS Our data support LBP-1c / CP2 / LSF as a candidate gene/risk factor for AD and provide justification for future studies to investigate the role of this gene in Alzheimer's disease. (bmj.com)
  • Pharmacogenomic studies focusing on candidate gene polymorphisms implicated in antidepressant response, especially in the serotonergic pathway. (researchsquare.com)
  • [ 6 ] Another proposed candidate gene is a HOX gene. (medscape.com)
  • Sepsis is defined as a host's response to been a candidate gene for investigation into blood culture bottles (Egyptian infection resulting from an imbalance in inflammatory disease, and studies Diagnostic Media) then incubated at between systemic pro-inflammatory focusing on elucidation of MIF gene 37 °C for 7-14 days. (who.int)
  • The genotype frequency was highest for AA (0.707), followed by AT (0.277) and TT (0.016). (wayne.edu)
  • The TLR9 gene genotype frequency was similar both in SLE patients and the control group. (bvsalud.org)
  • These results suggest that there is substantial genetic diversity in immune genes and exploration of SNP associations with immune-related diseases that vary in incidence across these two populations may be warranted. (johnshopkins.edu)
  • 163 In Lepidoptera, polymorphism can be seen not only between individuals in a population but also between the sexes as sexual dimorphism, between geographically separated populations in geographical polymorphism and also between generations flying at different seasons of the year (seasonal polymorphism). (wikipedia.org)
  • ALFRED is a resource of gene frequency data on human populations supported by the Yale Center for Medical Informatics. (yale.edu)
  • The association of APOE allele frequencies and dementia remain unknown in populations from developing countries. (uaeu.ac.ae)
  • Blood DNA collected from two hospital-based populations showed that the APOE allele frequencies in a group of non-demented 67 Tanzanians over the age of 65 years were found to be 14% for ε2, 61% for ε3 and 25% for ε4. (uaeu.ac.ae)
  • These results appear similar to those reported in a recent study in Nigerian Africans where a lack of correlation between APOE-ε4 allele frequency and Alzheimer type of dementia was noted, and imply that APOE-ε4 allele may not necessarily be a risk factor in some populations of Africa. (uaeu.ac.ae)
  • Although some tests were marginally significant for some populations and genes, none of them were significant after multiple-testing correction. (discovermagazine.com)
  • Influence of functional polymorphism in MIF promoter on sudden cardiac death in Chinese populations. (cdc.gov)
  • Mutation in the C3 and CFH genes, as well as other complement system-related genes, have been found to cause the condition in other populations. (medlineplus.gov)
  • We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)
  • Nous avons donc étudié l'association de deux polymorphismes - R353Q au niveau du codon 353 intervenant sur la région catalytique et le polymorphisme d'insertion de 10 paires de bases (pb) impliquant la région du promoteur - avec les taux de FVIIc chez 176 Tunisiens en bonne santé. (who.int)
  • Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
  • 1 The research is relatively vague in regard to what may actually be providing some Tasmanian devils with resistance to a transmissible form of cancer known as DFTD (devil facial tumor disease), but data points to changes in allele frequencies in two regions of chromosomes 2 and 3. (reasons.org)
  • The candidate regions identified in chromosomes 2 and 3 correspond to regions harboring five genes (one on chromosome 2 and four on chromosome 3) associated with immune function or cancer in other mammals. (reasons.org)
  • Polymorphism is the appearance of forms or "morphs" differing in color and number of attributes within a single species. (wikipedia.org)
  • T polymorphism of the WDR4 gene was significantly associated with Wilms tumor. (jcancer.org)
  • Yet, the allele frequency changes driven by selection and exploited in selection detection methods, are similar to those caused by the strong neutral genetic drift expected during a bottleneck. (biorxiv.org)
  • Based on characteristics of DFTD, the allele frequency changes in these regions, and localized genes and the homologous gene product function in other mammals, the researchers suggest that these allele changes are indicative of an adaptive immune response to DFTD cells. (reasons.org)
  • All of the genotypes analyzed were in Hardy-Weinberg equilibrium, but different degrees of linkage were observed for polymorphisms in the CYP1A1 and EPHX1 genes. (scielo.br)
  • Do the placental barrier, parasite genotype and Toll-like receptor polymorphisms contribute to the course of primary infection with various Toxoplasma gondii genotypes in pregnant women? (springer.com)
  • Low penetrance genotypes will only be expressed in a small frequency of individuals bearing them (as in acute intermittent porphyria). (tripod.com)
  • Assessment of APOE genotypes in the group of elderly Kenyan subjects from Nairobi also revealed high frequencies of the ε4 allele with no clear difference in frequency between demented and non-demented subjects. (uaeu.ac.ae)
  • The -491A/T polymorphism of the promoter region of the APOE gene was also examined. (wayne.edu)
  • The APOE frequencies found in this study differ significantly from those obtained in earlier Norwegian APOE phenotypings. (wayne.edu)
  • The apolipoprotein E (APOE) gene is located on chromosome 19 and encodes a glycoprotein that is 299 amino acids long. (dovepress.com)
  • We recently initiated a project to examine APOE frequencies in non-demented and demented elderly East Africans. (uaeu.ac.ae)
  • Our preliminary observations suggest that elderly East Africans with no apparent clinical AD possess relatively high APOE-ε4 allele frequencies compared to normal ageing subjects from Western countries including African-Americans. (uaeu.ac.ae)
  • The records cover gene frequency and population size for much of the twentieth century. (wikipedia.org)
  • Another example is the genetic polymorphism of larval developmental rates seen in the Phengaris rebeli, in which there exist slow-developing larvae (SDL) (75% of the total P. rebeli larval population) and fast-developing larvae (FDL) (25% of the total P. rebeli larvae population). (wikipedia.org)
  • It is important to note that previous studies have been conducted in different ethnic groups, few of them have examined the relationship between these gene polymorphisms and PD in Chinese population. (researchsquare.com)
  • Genotype Frequencies of UDP-Glucuronosyltransferase 1A1 Promoter Gene Polymorphism in the Population of Healthy Croatian Pre-Scholars (str. (srce.hr)
  • The NBDPS allows researchers to investigate gene-medication associations because it collected information on the timing, duration, and frequency of medication use, and has a diverse racial and ethnic study population, representative of the population of the United States. (cdc.gov)
  • The researchers speculate that genes in these regions may end up being key in providing Tasmanian devils with resistance to the aggressive and easily transmitted form of cancer that has wiped out 80 percent of the population in just two decades. (reasons.org)
  • Combined P values for each gene-population pair did not improve these results. (discovermagazine.com)
  • The polymorphisms associated with warfarin sensitivity often differ by population and ethnic background. (medlineplus.gov)
  • The aim of this study is to investigate the insulin-like growth factor type 2 (IGF2R) gene and circulating soluble IGF2R in relation to type 2 diabetes (T2DM). (hindawi.com)
  • It is therefore the purpose of the present study to investigate the IGF2R gene and circulating soluble IGF2R in relation to T2DM in adults. (hindawi.com)
  • The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccoud's arthropathy (JA). (bvsalud.org)
  • The current study aimed to use Coagulase gene polymorphism to identify methicillin-resistant Staphylococcus aureus (MRSA) subtypes isolated from nasal carriers in Minia governorate, Egypt, evaluate the efficiency of these methods in discriminating variable strains, and compare these subtypes with antibiotypes. (hindawi.com)
  • The aim of this study was to use coa gene polymorphism to identify MRSA subtypes isolated from nasal carriers in Minia governorate, Upper Egypt, evaluate the efficiency of these typing methods in discriminating variable strains, and compare these subtypes with antibiotypes. (hindawi.com)
  • MATERIAL AND METHODS: In esophageal mucosal samples of 79 patients with: GERD (n=33), BE (n=27), BE+dysplasia (n=8) and ADC (n=11) we have studied LOH of APC tumor suppressor gene using PCR-restriction fragment length polymorphism (RFLP). (who.int)
  • We detected a significant association between the T21M polymorphism in the UTS2 gene and migraine (53.8 % in patients, 40.4 % in controls, p = 0.035), but not with S89N polymorphism (p = 0.620). (nih.gov)
  • Recently several reports have cleotide (designated as 0/10 bp) in the pro- focused on the association between the moter region of the gene at position -323 factor VII of the cascade coagulation and [ 13,14 ]. (who.int)
  • The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)
  • In this study we have typed for the 3′UTR polymorphism in a series of necropsy confirmed AD cases and age matched non-demented controls to see if we could confirm an association between this polymorphism and sporadic AD, and thus give further support for the role of this genetic variant as a risk factor in AD. (bmj.com)
  • The aim of the present study was to examine the association of serotonin-related gene polymorphisms with PD risk. (researchsquare.com)
  • The SLC6A4(rs140701, rs3813034, 5-HTTLPR and STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 gene polymorphisms were genotyped and assessed for the potential association. (researchsquare.com)
  • A few studies have investigated the association between the 5-HTT linked polymorphic region (5-HTTLPR), 5-HTR1A rs6295, 5-HTR2A rs6313, COMT rs4680 polymorphisms and PD[8-16]. (researchsquare.com)
  • To get a better understanding of a possible mechanism for the teratogenicity of these and other medications, such as gene-medication interaction, the Birth Defects Monitoring and Research Branch is planning a genome-wide association study (GWAS) with enhanced pharmacogenomic content among mothers of infants with and without birth defects who used specific medications. (cdc.gov)
  • A SNP association with a trait is usually attributed to the changes in the activity of the gene where the SNP is located. (tripod.com)
  • Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to chromium. (nel.edu)
  • Halasova E, Matakova T, Musak L, Polakova V, Vodicka P. Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to chromium. (nel.edu)
  • This A1298C polymorphism is known to have a lower effect in reducing enzyme activity, compared with the 677 mutation. (biomedcentral.com)
  • An intronic mutation may well result in a non-functional gene (like the splicing site mutation in CYP21A2 ). (tripod.com)
  • This is one definition of mutation and polymorphism. (tripod.com)
  • A specific mutation in one of the complement system-related genes, CFHR5 , has been found to cause C3 glomerulopathy in people from the Mediterranean island of Cyprus. (medlineplus.gov)
  • CONCLUSIONS: APC gene inactivation concerns minority of patients with esophageal adenocarcinoma, however, its detection indicates higher risk of progression to ADC. (who.int)
  • The aim of this study was to analyze the plasma U-II levels along with genotype distributions and allele frequencies for UTS2 Thr21Met and Ser89Asn polymorphisms among the patients with migraine without aura (MWoA). (nih.gov)
  • Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. (scirp.org)
  • [ 4 ] The two missense mutations (C282Y and H63D) of the HFE gene are responsible for most cases of HH in patients of European descent. (medscape.com)
  • We also assessed whether these two MTHFR gene polymorphisms may be implicated in the development of cardiovascular (CV) events and subclinical atherosclerosis manifested by the presence of endothelial dysfunction, in a series of Spanish patients with RA. (biomedcentral.com)
  • No significant differences in allele or genotype frequencies for the MTHFR gene polymorphisms between RA patients and controls were found. (biomedcentral.com)
  • C gene polymorphism confers an increased risk for subclinical atherosclerosis and CV events in patients with RA. (biomedcentral.com)
  • Ser9Gly polymorphism of the DRD3 gene is associated with worse premorbid social functioning and an earlier age of onset in female but not male schizophrenic patients. (ox.ac.uk)
  • however, despite investigations of the c-mpl gene in patients with TAR, no mutations have been found in this gene. (medscape.com)
  • [ 8 ] All patients and 75% of unaffected parents in this cohort had the microdeletion, suggesting co-inheritance of an additional modifier gene for disease expression. (medscape.com)
  • A study by Manukjan et al indicated that in patients with TAR syndrome, those with the 5'UTR SNP in RBM8A have a significantly lower platelet count than do patients with the intron-1 SNP in this gene. (medscape.com)
  • Une étude a été menée dans des unités de soins intensifs en chirurgie pour adultes de l'hôpital universitaire de Zagazig, (Égypte) auprès de 25 patients atteints de septicémie, de 27 patients atteints d'une septicémie sévère et de 28 témoins. (who.int)
  • All patients completed a questionnaire to identify possible risk factors and subsequently underwent peripheral blood collection to study the LOX gene. (bvsalud.org)
  • RESULTS: Among 79 patients, there were 16 heterozygous (20%) for APC gene. (who.int)
  • The frequency of heterozygous cases in control group was significantly higher than in patients group (p = 0.018), whereas Rsa (-/-) were the most frequent in patients group (p = 0.008). (who.int)
  • The specific polymorphism may identify patients with high risk of progression into BE. (who.int)
  • This arrest is caused by an abnormal expression of genes, often as a result of chromosomal translocations or abnormalities of chromosome number. (medscape.com)
  • Certain VKORC1 gene polymorphisms decrease the amount of functional VKORC1 enzyme available to help activate clotting proteins. (medlineplus.gov)
  • Polymorphisms in XRCC3 gene did not modulate the frequencies of CAs, CTAs and CSAs. (nel.edu)
  • also Thr21Met polymorphism was associated with the risk of migraine disease. (nih.gov)
  • Analysis of HFE gene polymorphisms may help detect early disease. (medscape.com)
  • The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against cardiovascular disease. (who.int)
  • 10976 in exon 8 in the catalytic region of ing factors that may increase cardiovascu- the FVII gene and an insertion of a decanu- lar disease. (who.int)
  • Genetic polymorphism of cytochrome P450 4F2, vitamin E level and histological response in adults and children with nonalcoholic fatty liver disease who participated in PIVENS and TONIC clinical trials. (oregonstate.edu)
  • The disease is usually inherited in an autosomal recessive manner and is caused by mutations in the HFE gene. (medscape.com)
  • HH can be classified as types 1, 2, 3, and 4, with type 1 due to mutations in the HFE gene being most prevalent form and relatively common in Caucasians. (medscape.com)
  • Database comparisons of the NAT2 minor allele frequencies support that Romanians belong to Caucasians and Kyrgyz are in between Caucasians and East Asians. (aacrjournals.org)
  • These findings also suggest that there is no sex-associated inheritance of these polymorphisms, and sex-specific symptoms appear as a result of independent biological processes. (medscape.com)
  • T polymorphism and CV events or endothelial dysfunction was observed. (biomedcentral.com)
  • DNA sequence analysis of the 3′-end of the Coagulase ( coa ) gene revealed heterogeneity in the 81 bp tandem repeats region that encoding repeated 27-amino-acid sequences in the C-terminal region. (hindawi.com)
  • Furthermore, sequence homology between mammalian and fungal genes in the GPI pathway show modest conservation raising the chances of finding fungal-selective molecules with good therapeutic index 8 . (nature.com)
  • It is best to be aware of these definitions while sticking with the recommendations of the Human Genome Variation Society and to use ' sequence variant ' , ' alteration ' or ' allelic variant ' for any genomic change regardless of their frequency or phenotypic effects. (tripod.com)
  • Applying all commonly used neutrality-test statistics for allele frequency distribution to the newly generated sequence data provided conflicting results regarding evidence for positive selection. (discovermagazine.com)
  • Application of Approximate Bayesian Computation Markov chain Monte Carlo based to these sequence data using a simple forward simulator revealed broad posterior distributions of the selective parameters for all four genes, providing no support for positive selection. (discovermagazine.com)
  • However, Fleischman and colleagues did not detect mutations in the coding sequence of HOX genes known to affect radial development. (medscape.com)
  • The ion occupancies derived from the MRD data are substantially higher than previously reported, suggesting that groove-bound ions significantly influence the energetics and structural polymorphism of DNA in vivo. (lu.se)
  • Long time readers will be familiar with the large literature in behavior genetics/genomics and dopamine receptor genes. (discovermagazine.com)
  • The allele frequencies in the -491 site of the promoter region were 0.845 for the A allele and 0.155 for the T allele. (wayne.edu)
  • Sheppard found that the polymorphism is maintained by selective mating: each genotype preferentially mates with other morphs. (wikipedia.org)
  • [ 1 ] Type 2, the severest form of HH, results frm mutations in hemojuvelin BMP co-receptor (HJV) and hepcidin antimicrobial peptide (HAMP) genes. (medscape.com)
  • HH is usually inherited in an autosomal recessive manner, type 4 being the only autosomal dominant form and resulting from mutations in the solute carrier family 40-member 1(SLC40A1) gene. (medscape.com)
  • The frequency of the C282Y and H63D mutations is 5.4% and 13.5%, respectively. (medscape.com)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. (medlineplus.gov)
  • DNA repair gene polymorphisms were determined by Real-Time allelic discrimination assay. (nel.edu)
  • AIM OF THE STUDY: To evaluate the polymorphism and prevalence of loss of heterozygosity (LOH) of APC tumor suppressor gene in mataplasia, dysplasia and adenocarcinoma. (who.int)
  • This species, and others in its genus, have been extensively studied for understanding the genetic basis for polymorphism and Batesian mimicry. (wikipedia.org)
  • Public Health visited hospital A during March 21-22, 2022, suggested that a different carbapenemase gene was present. (cdc.gov)
  • ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)
  • A recent study suggested that the A allele of the 3′UTR biallelic polymorphism in the LBP-1c / CP2 / LSF gene was associated with reduced AD risk. (bmj.com)
  • Numerous studies have evaluated the relationship between RNASEL gene polymorphisms (rs486907 G>A and rs627928 T>G) and the risk of cancer. (medscimonit.com)
  • While these polymorphisms increase the risk of C3 glomerulopathy, many people who inherit these genetic changes will never develop the condition. (medlineplus.gov)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
  • Per copy frequency of T allele (Val) was found to be 0.14 in cases versus 0.19 in controls (p (scirp.org)
  • They found that the A allele of a G/A polymorphism located in the 3′UTR was associated with sporadic AD in samples diagnosed predominantly by clinical, rather than pathological, criteria. (bmj.com)
  • Most human genetic variation is found within ancestral groups with only 5%-10% of gene frequencies differing between ancestral groups. (bmj.com)
  • All children found negative ( n = 44) for the MKRN3 gene were further investigated by whole exome sequencing (WES). (frontiersin.org)
  • The identified isolates were tested by Coagulase gene RFLP typing. (hindawi.com)
  • Both isolates had active-on-imipenem metallo-beta-lactamase emase genes. (cdc.gov)
  • CRPA isolates for carbapenemase genes and implementation of occupied room X while receiving mechanical ventilation for sink hygiene interventions, was critical in the identification of 4 weeks. (cdc.gov)
  • Seasonal polyphenism in Eurema hecabe Environmental polymorphism, where genetic heritability plays no role, is often termed polyphenism. (wikipedia.org)
  • Abundant evidence has shown that serotonin-related gene polymorphisms played an important role in the clinical effects of antidepressants. (researchsquare.com)
  • To explore the role of RNASEL gene polymorphisms in prostate cancer, we carried out the present meta-analysis. (medscimonit.com)
  • Our study investigates chromosomal damage related to chromium exposure, considering the role of polymorphisms in relevant DNA repair genes. (nel.edu)
  • The HOX family of genes plays a major role in embryogenesis and cell differentiation, including differentiation of hematopoietic cell lines. (medscape.com)
  • While changes in specific genes, particularly CYP2C9 and VKORC1 , affect how the body reacts to warfarin, many other factors, including sex, age, weight, diet, and other medications, also play a role in the body's interaction with this drug. (medlineplus.gov)
  • The aim of this study was to assess the correlation between polymorphisms in the genes coding for mannose-binding lectin (MBL) and interleukin-1 receptor antagonist (IL1-Ra) and RVCC in women from São Paulo, Brazil. (usp.br)
  • in this retrospective cohort study, LOX G473A polymorphism frequency was assessed in 148 women with breast cancer and 245 women without breast cancer. (bvsalud.org)
  • Upon contact with tissue ferences in FVII activity levels and in geno- factor exposed by vascular injury, FVII is type frequencies depend on the ethnic cleaved to its two-chain active form, which groups [ 15 ]. (who.int)
  • Here, we use a reporter gene-based screen in Saccharomyces cerevisiae for the discovery of antifungal inhibitors of GPI-anchoring of proteins, and identify the oligocyclopropyl-containing natural product jawsamycin (FR-900848) as a potent hit. (nature.com)
  • Most of these genes provide instructions for making proteins that help regulate a part of the body's immune response known as the complement system. (medlineplus.gov)