• The objective of this study was to analyse L. maculans isolates derived from canola stubble in commercial fields collected in 2010 and 2011 across western Canada for the presence and frequency of avirulence ( Avr ) genes. (gc.ca)
  • Isolates which did not possess any virulence genes or had a few scattered virulence-related genes were considered nonpathogenic. (asm.org)
  • b E. coli isolates carrying at least one antimicrobial resistance gene. (asm.org)
  • Among Pseudomonas aeroginosa strains isolated from urinary tract infections including 30 isolates, exotoxin A and alginate genes were observed in 21 (70%), and 26 (86.6%) isolates, respectively. (sid.ir)
  • Also, in other strains isolated from burn wound infections including 20 isolates, exotoxin A and alginate genes were detected in 16 (80%) and 20 (100%) isolates. (sid.ir)
  • We recently showed that the ATP-binding-cassette (ABC) transporter gene CgCDR1 was upregulated in C. glabrata clinical isolates resistant to azole antifungal agents (D. Sanglard, F. Ischer, D. Calabrese, P. A. Majcherczyk, and J. Bille, Antimicrob. (asm.org)
  • This gene was slightly expressed in clinical isolates but was upregulated in strains with the HFAR phenotype. (asm.org)
  • These results indicate that qac resistance genes are common and that linkage between resistance to disinfectants and penicillin resistance occurs frequently in clinical isolates in Norway. (asm.org)
  • This study compared the in-vitro ability of Enterococcus faecium isolates of different origin to acquire vanA by conjugation in relation to the occurrence of the esp gene. (diva-portal.org)
  • For our knowledge, our study is the first to investigate antiseptic resistance genes in enterococci and also qacG , qacH , and qacJ genes in staphylococci isolates in Turkey. (biomedcentral.com)
  • The objective of this study was to determine the prevalence of CTX-M gene in ESBL-producing P. aeruginosa isolates in clinical samples. (ac.ir)
  • Genetic polymorphisms of IFNG and IFNGR1 in association with the risk of pulmonary tuberculosis," Gene , vol. 543, no. 1, pp. 140-144, 2014. (hindawi.com)
  • Susceptibility to pulmonary tuberculosis: host genetic deficiency in tumor necrosis factor alpha (TNF-α) gene and tumor necrosis factor receptor 2 (TNFR2)," International Journal of Mycobacteriology , vol. 5, Supplement 1, pp. (hindawi.com)
  • In population genetics, allele frequency is used to reflect the genetic diversity of a population species. (easycalculation.com)
  • It is a measure of relative frequency of a gene on a genetic locus in a population. (easycalculation.com)
  • An analysis of data on the genetic variation among 2,400 British middle-aged men indicated that the men would have suffered 43 percent more heart attacks had the positive selection for the gene variant not occurred. (bio-medicine.org)
  • This broader study would aim to bridge the gap between medical scientists' detailed molecular understanding of the genetic mutation underlying a disease and the evolutionary biologists' insights into how natural selection acted on the gene to propagate that mutation in the population. (bio-medicine.org)
  • It is indisputable that normal infants of any genetic makeup can learn the language(s) they are exposed to in the first years of life, so we can assume with considerable confidence that there are no "genes for Chinese. (pnas.org)
  • It is also accepted that this variation can be partially attributed to genetic factors, most probably through a "many genes with small effects" model including both generalist and specialist genes ( 12 - 15 ). (pnas.org)
  • This study elucidates the effect of different maize genetic backgrounds on variation in gene frequency in sweet corn, sugary1 (su1) and sugary enhancer1 (se1), and supersweet corn, shrunken2 (sh2). (csic.es)
  • Carrier rates for the autosomal recessive gene concerned were 1 in 76 to 1 in 111 (95%) confidence limits), with a working estimate of 1 in 90 for genetic counselling purposes. (bmj.com)
  • This was originally demonstrated in individuals with the rare genetic disease xeroderma pigmentosum, the paradigm of cancer genes, and subsequently in the relationship between mismatch repair and colon cancer. (aacrjournals.org)
  • Genetic abnormalities leading to dysfunction of epithelial adhesion molecules including E-cadherin (7) , desmosome (8) , and tumor suppressor genes including p53 (9) , p16 (10) , and RASSF1A (11) genes are important steps in the development of NPC. (aacrjournals.org)
  • The objectives of this research were to identify the allelic frequency of growth hormone MspI enzyme-restriction, to define the genetic inequilibrium in selected superior and inferior body weight groups of the cows (G0) and to upgrade genetically the genetic equilibrium of their Ongole-crossbred progenies (G1) population. (academicjournals.org)
  • Allele frequencies of Msp1+ in both groups of G0 were not under genetic equilibrium. (academicjournals.org)
  • However, allele frequencies of Msp1+ in G1 population were under genetic equilibrium. (academicjournals.org)
  • These results are consistent with a requirement for increased crossover frequencies in the absence of genetic interference for obligate crossovers. (g3journal.org)
  • In conclusion, these data suggest crossover frequencies and the strength of genetic interference in an organism are mutually optimized to ensure obligate crossovers. (g3journal.org)
  • Molecular and genetic studies indicated different structural arrangements of blaZ and qacA/B , including variable intergenic distances and transcriptional directions of the two genes on the same plasmid within the strains. (asm.org)
  • Resistance genes on transferable genetic elements such as plasmids and transposons may lead to the epidemic spread of resistance between species. (asm.org)
  • Other studies evaluating more markers, that could potentially modulate RANTES gene transcription alongside other genetic modifiers of malaria susceptibility, may provide further explanations to these less dramatic findings. (biomedcentral.com)
  • METHODS: Perforin gene A91V missense transition (C>T change at position 272 in exon 2 of the perforin gene) and TNF-α gene promoter-1031 T>C nucleotide substitution are 2 candidate genetic predisposing factors due to their potential to alter inflammatory responses. (tjh.com.tr)
  • Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. (semanticscholar.org)
  • Rare and low-frequency functional protein coding variants (minor allele frequency ≤ 5%) measured by an exome array were aggregated by genes and evaluated by a gene-environment interaction (G×E) test and a joint test of genetic main and G×E interaction effects. (bcm.edu)
  • In conclusion, this study applied new gene-based statistical approaches and suggested that rare and low-frequency genetic variants interacted with alcohol consumption on lipid levels. (bcm.edu)
  • Main Outcomes and Measures: The frequency of rare pathogenic or likely pathogenic genetic variants. (umn.edu)
  • Because EGFR gene mutation status in Uighur patients with lung adenocarcinoma is not known, we designed this study to provide genetic evidence for effective treatment with EGFR-TKI therapy. (biomedcentral.com)
  • According to the first genetic study of the female orgasm, up to 45 per cent of the variation in women's ability to have them could be down to genes. (newscientist.com)
  • We show that gene copy-number changes are a common class of adaptive genetic change. (biomedcentral.com)
  • Ohno [ 1 ] theorized that newly duplicated genes were freed from the constraints of natural selection, implicating a dominant role of genetic drift in their early evolutionary dynamics. (biomedcentral.com)
  • In the following pages you will examine other ways a population might change through gene flow, genetic drift, the founder effect and genetic bottlenecks. (docplayer.net)
  • Starting Population: Black Dark Pale Frequencies Frequency % Some individuals are killed by chance Population after Genetic drift Black Dark Pale Frequencies Frequency % Notice the changes in phenotype and genotype frequencies due to random genetic drift. (docplayer.net)
  • Lemaux, Peggy 2006-09-27 00:00:00 Transposable elements have certain advantages over other approaches for identifying and determining gene function in large genome cereals. (deepdyve.com)
  • BLAST searches using a gene prediction program revealed that 86% of TNP flanking sequences matched either known or putative genes, indicating preferential Ds insertion into genic regions, critical in large genome species. (deepdyve.com)
  • Observed remobilization frequencies of primary, secondary, tertiary, and quaternary TNPs, coupled with the tendency for localized Ds transposition, validates a saturation mutagenesis approach using Ds to tag and characterize genes linked to Ds in large genome cereals like barley and wheat. (deepdyve.com)
  • Finally, we show that specific gene families transposed at specific points in evolutionary time, particularly after whole-genome duplication events in the Brassicales, and suggest that genes in mobile gene families are under different selection pressure than syntenic genes. (plantcell.org)
  • Expected Gene Ontology term frequency in a genome? (biostars.org)
  • Is there a concensus on which k-mers should be counted in a histogram graph of kmer multiplicity vs frequency to estimate the genome size? (biostars.org)
  • Interestingly, this modulation appears to be conserved in human cells and bioinformatic analyses of locus-specific, long-range cis-interactions suggest that it may underlie the dynamics of a significant number of gene-rich domains in mammals, thus contributing to genome evolution. (inserm.fr)
  • Eight loci (, , , , , , and ) remained significant after conditioning on the common index single nucleotide polymorphism (SNP) identified by previous genome-wide association studies, suggesting an independent role for rare and low-frequency variants at these loci. (bcm.edu)
  • Here we take advantage of the conserved nature of LanC enzymes to devise an in silico approach to identify potential lantibiotic-encoding gene clusters in genome sequenced bacteria. (biomedcentral.com)
  • Frequency of formation of chimeric molecules as a consequence of PCR coamplification of 16S rRNA genes from mixed bacterial genomes. (asm.org)
  • I'm looking for just some basic ballpark estimates of GO term frequency in some "average" genomes, or some benchmarks done with some current assemblies. (biostars.org)
  • one is to account for the hierarchical nature of the ontology and the way genes are annotated, e.g. the same gene in two different genomes may have been annotated using different related terms e.g. the parent in one case and a child term in the other. (biostars.org)
  • Chromosomal double-strand breaks induce gene conversion at high frequency in mammalian cells. (asm.org)
  • Chromosomal instability and mutation of the K- ras proto-oncogene and the p53 suppressor gene are common. (aacrjournals.org)
  • 3 2 Here we performed targeted resequencing of 52 genes associated with 11 distinct BMF syndromes in 45 patients with AA (known to be normal for TERC) that was seemingly idiopathic in nature (patients had no extra-hematopoietic features, family history or stigmata of known inherited BMF syndromes and normal chromosomal breakage scores). (haematologica.org)
  • Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. (semanticscholar.org)
  • Certain types of gene families, such as those encoding most families of transcription factors, maintain their chromosomal syntenic positions throughout angiosperm evolutionary time. (plantcell.org)
  • Here, we describe the chromosomal positional history of all genes in Arabidopsis thaliana throughout the rosid superorder. (plantcell.org)
  • furthermore, when strains of Neurospora were engineered in which frq expression could be driven from a region distinct from the resident wild type gene, it was found that FRQ repressed its own expression and that no level of constant expression could support a circadian clock. (wikipedia.org)
  • The restriction map of the gvpA gene region in class I mutants is unchanged but the gene copy number is reduced compared to the Vac + strains. (pnas.org)
  • for strains bearing hipA+ the frequency is 10(-6), and for hipA- strains the frequency is 10(-2). (asm.org)
  • In this study, frequency of exotoxin A and alginate genes in clinical pseudomonas aeroginosa strains isolated from nosocomial infections were analysed. (sid.ir)
  • The results of our study showed that alginate gene is so important in pseudomonas aeroginosa strains isolated from urinary tract infections and burn wound infections. (sid.ir)
  • Moreover, the higher frequency of antibiotic resistance among BC-resistant strains indicates that the presence of either resistance determinant selects for the other during antimicrobial therapy and disinfection in hospitals. (asm.org)
  • Epigenetic inactivation of genes by promoter hypermethylation, a major mechanism in the initiation and progression of tobacco-induced cancer, has also been associated with lung cancer induced through environmental and occupational exposures. (nih.gov)
  • Increased frequency for inactivation of genes by promoter hypermethylation and targeting of tumor suppressor genes such as GATA5 may be factors that contribute to the increased risk for lung cancer associated with radiation exposure. (nih.gov)
  • The recently discovered CpG island methylator phenotype (CIMP) has widespread concordant hypermethylation of the promoters of numerous genes that often results in transcriptional silencing of those genes. (aacrjournals.org)
  • The frq gene can be activated from two distinct cis-acting sequences in its promoter, a distal site, the clock-box, used in the context of circadian regulation, and a site close to the principal transcription start site that is used for light-induced expression (the proximal light-regulatory element or PLRE). (wikipedia.org)
  • Second, transcription factors activate the expression of downstream genes that will implement cellular responses 1 , 2 , 3 . (pubmedcentralcanada.ca)
  • The purpose of this study is to clarify the biologic actions of extremely low-frequency (ELF) alternate-current (AC) high magnetic fields, especially their effects on gene functions including DNA replication, repair and transcription. (nii.ac.jp)
  • www.ingenuity.com/variants) on the assumption that any disease causing or predisposing variant would not be seen at a high frequency in the general population. (haematologica.org)
  • Variants were selected that were rare (minor allele frequency of 0.0001 or less), had passed the Illumina filter, had a quality score of Q80 or above and resulted in a missense, stop gain/loss, insertion/deletion or splice site change. (haematologica.org)
  • Twenty rare variants remained and 19, from 12 different genes, were validated by Sanger sequencing (Table 1). (haematologica.org)
  • Rare variants identified in patients with IAA and their frequency per gene compared to a control population. (haematologica.org)
  • Results: P/LP variants were observed in 10 of the 12 genes evaluated, with SDHA , RET , and NF1 most frequently implicated. (endocrine-abstracts.org)
  • However, the frequency of germline P/LP variants in individuals with discordant cancers did not differ significantly to that observed in the control population, although it was notable that for the majority of genes the frequency of P/LP variants in the control cohort exceeded estimates of disease prevalence. (endocrine-abstracts.org)
  • Conclusion: Although P/LP germline variants in monogenic endocrine tumour genes may be observed in patients with discordant cancer phenotypes, in most instances these do not appear to be causal. (endocrine-abstracts.org)
  • Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. (bcm.edu)
  • We thus sequenced the entire 5-Mb MHC region in 20,635 individuals of Han Chinese ancestry (10,689 controls and 9,946 patients with psoriasis) and constructed a Han-MHC database that includes both variants and HLA gene typing results of high accuracy. (nature.com)
  • However, through segregation analysis, probable genotypes can be assigned to individuals that themselves were not tested, using known genotypes on relatives and a starting (presumed) gene frequency. (unl.edu)
  • The value of these probable genotypes in estimation of gene frequency was considered. (unl.edu)
  • In using probable genotypes the bias was lessened but the estimate of gene frequency still reflected the sampling strategy rather than the true population frequency. (unl.edu)
  • An increased frequency of homozygote genotypes was found in subjects with high serum triglycerides. (univalle.edu.co)
  • Ibrahim, Ibrahim M 2017-05-10 00:00:00 AbstractThrombophilia may be anticipated by single or combined hereditary defects in encoding genes factor V, Prothrombin, and MTHFR. (deepdyve.com)
  • These results suggest that ejaculation affects the expression of genes in the normal prostate tissue. (urotoday.com)
  • These results suggest that FM regulation of localization bursts may be a general control strategy utilized by the cell to coordinate multi-gene responses to external signals. (pubmedcentralcanada.ca)
  • These results show that VH18/2 is overrepresented in the B cell repertoire of normal subjects and suggest that the immune repertoire may be dominated by relatively few V genes. (rupress.org)
  • Our results indicated that the mutation frequency ranged from 3.39 × 10 -4 to 5.46 × 10 -2 in the hypermutator. (frontiersin.org)
  • We report initial results from a study to estimate the extent of DNA sequence variation among individuals in genes encoding proteins of the DNA repair pathways. (aacrjournals.org)
  • The results showed that Msp1+ allele frequencies in superior and inferior G0 groups were 0.45 and 0.18, respectively. (academicjournals.org)
  • Discussion & Conclusion: The results of our study confirm that exotoxin A and alginate genes presence is considered an important virulence factor of pseudomonas aeruginosa. (sid.ir)
  • The results of this study suggest that the severity of AD in a Polish population is associated with some specific haplotypes of the IL-31 gene, which can indicate their prognostic role also renews the questions concerning the role of IL-31 in pruritus in AD. (ovid.com)
  • The investigators concluded that the results of this study demonstrated that sputum gene signatures may offer a superior means of predicting future asthma exacerbations compared with the use of conventional biomarkers. (healthclue.eu)
  • Neither tolerance, resistance, impaired growth, nor reversion of spheroplasts accounts for high-frequency persistence. (asm.org)
  • Interaction network analysis revealed that the ribosome pathway might be a critical factor for high mutation frequency and multidrug resistance in MMR-deficient Salmonella hypermutators. (frontiersin.org)
  • Selection pressure from the race-specific resistance genes carried in canola cultivars has probably played a significant role in the current Avr profile, which may have also contributed to the recent increase in blackleg observed in western Canada. (gc.ca)
  • Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. (univalle.edu.co)
  • Deletion of CgCDR1 in C. glabrata rendered the null mutant hypersusceptible to azole derivatives and showed the importance of this gene in mediating azole resistance. (asm.org)
  • We observed that wild-type C. glabrata exposed to fluconazole in a medium containing the drug at 50 μg/ml developed resistance to this agent and other azoles at a surprisingly high frequency (2 × 10 −4 to 4 × 10 −4 ). (asm.org)
  • We show here that this high-frequency azole resistance (HFAR) acquired in vitro was due, at least in part, to the upregulation of CgCDR1 . (asm.org)
  • Deletion of both CgCDR1 and CgCDR2 suppressed the development of HFAR in a medium containing fluconazole at 5 μg/ml, showing that both genes are important mediators of resistance to azole derivatives in C. glabrata . (asm.org)
  • The frequencies of resistance to a range of antibiotics were significantly higher among BC-resistant staphylococci than among BC-sensitive staphylococci. (asm.org)
  • Known qac resistance genes reported in clinical staphylococci, qacA , qacB , and qacC/smr , are generally plasmid borne and are widely distributed in the environment ( 12 , 14 , 15 , 18 ). (asm.org)
  • It has been reported that antiseptic resistance genes, qac 's, caused tolerance to a variety of biocidal agents, such as benzalkonium chloride (BAC) and chlorhexidine digluconate (CHDG) in Staphylococcus spp . (biomedcentral.com)
  • Antiseptic resistance genes ( qacA/B , smr , qacG , qacH , and qacJ) isolated from Gram-positive cocci (69 Staphylococcus spp . (biomedcentral.com)
  • With an increase in the number of candidate genes for important traits in livestock, effective strategies for incorporating such genes into selection programmes are increasingly important. (unl.edu)
  • In the analysis, 238 high-interest cancer-susceptibility genes were assessed followed by testing of the mutational burden across 736 additional candidate genes. (umn.edu)
  • Genomic DNA samples from 20 children with neuroblastoma, including 16 patients with advanced disease, were screened for the presence of mutations in exons 5-9 of the p53 gene, where over 90% of mutations have been reported to be located in human cancer. (nih.gov)
  • We aimed to assess long-term outcomes of bariatric operations in patients characterized for eating behavior and rare mutations in the melanocortin-4 receptor ( MC4R ) gene, which is strongly implicated in energy balance. (diabetesjournals.org)
  • Impaired clock gene (CG) expression is linked to obesity and IR in T2D and it was shown in animals and T2D patients treated with oral anti-hyperglycemic drugs, that WL diet with restricted meal timing to specific hours, restored CG expression and was more effective for WL and for reduction of hyperglycemia compared to isocaloric WL diet, (commonly recommended for T2D), consisting of small meals randomly distributed along the day. (clinicaltrials.gov)
  • In two patients with active SLE the frequency of use of VH18/2 was not greater than that observed in normal subjects. (rupress.org)
  • The article presents a case series of eight patients with autosomal recessive Parkinson's disease (PD), in whom Parkin gene mutation carriers were observed with isolated limb dystonia as the feature of their disorder that lasted for years before the development of symptoms. (ebscohost.com)
  • We investigated the parkin gene in 118 patients with typical Parkinson's disease (PD), i.e. in patients who had an onset of PD after the age of 45 years. (ebscohost.com)
  • Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (ebscohost.com)
  • Frequency of Factor V Leiden G/A genotype in patients with DVT 7 (11.6%) had a significant association for DVT χ2 (OR = 5.1, P = 0.03). (deepdyve.com)
  • Some health care professionals, however, worry that this approach might result in accumulation of the disease gene, which is normally removed from the population through the death of homozygous patients. (who.int)
  • 1 In some cases, however, AA patients have been found to harbor mutations in genes encoding the RNA or reverse transcriptase component of telomerase (TERC and TERT, respectively). (haematologica.org)
  • The frequency of AAG, AGA, AGG, and GAA haplotypes of the IL-31 gene was higher in patients with AD than in controls. (ovid.com)
  • Thirty-three Menkes patients in whom no mutation had been detected with standard diagnostic tools were screened for exon duplications in the ATP7A gene. (biomedcentral.com)
  • Partial ATP7A gene duplication was identified in 20 unrelated patients including one patient with Occipital Horn Syndrome (OHS). (biomedcentral.com)
  • Duplications in the ATP7A gene are estimated from our material to be the disease causing mutation in 4% of the Menkes disease patients. (biomedcentral.com)
  • Among the 44 AHLH patients, 5 (11.3%) were heterozygous and the difference in the frequency of A91V transition, although striking (odds ratio: 2.8), was not statistically significant (p=0.09). (tjh.com.tr)
  • S65c frequency in Italian patients with hemochromatosis, porphyria cutanea tarda and chronic viral hepatitis with iron overload. (semanticscholar.org)
  • Use of a sputum gene expression signature of 6 biomarkers - the 6GS, which includes CLC , CPA3 , DNASE1L3 , ALPL , CXCR2 , and IL1B - can predict future exacerbation phenotypes in patients with moderate to severe asthma. (healthclue.eu)
  • The mutation frequency of XLMR genes in BP families is lower than can be expected on basis of the male to female ratio of patients with MR or observed recurrence risks. (mpg.de)
  • In recent years, a V617F somatic mutation in Janus kinase 2 (JAK2) gene which is highly specific for myeloproliferative disorders has been detected in 40 % to 50 % and 30 % to 35 % of Western patients with HVOTO and EHPVO, respectively. (cdc.gov)
  • To investigate the intrinsic mutation frequency and substitution bias of SHMs at the amino acid level, we analyzed functional human antibody repertoires and developed mGSSP (method for gene-specific substitution profile), a method to construct amino acid substitution profiles from next-generation sequencing-determined B cell transcripts. (frontiersin.org)
  • We aimed to investigate the association of the IL-31 gene haplotypes with pruritus and severity of AD, as well as their correlation to the serum IL-31 levels. (ovid.com)
  • Objective The diagnosis of partial androgen insensitivity syndrome (PAIS) should be reserved for infants with a pathogenic androgen receptor gene ( AR ) mutation. (bmj.com)
  • The frequency of a pathogenic or likely pathogenic cancer-susceptibility gene variant was 128 of 1062 individuals (12.1%) in the control group and 2527 of 27173 individuals (9.3%) in the ExAC group. (umn.edu)
  • A Vac - class II mutant, R1, contains the 1.3-kb insertion sequence, ISH3, within the gvpA gene, whereas four Vac δ- class II mutants contain other insertion sequences upstream of the gene. (pnas.org)
  • Crossovers were restored to wild-type frequency in the double mutant mlh3 Δ pch2 Δ (100 crossovers per meiosis), but obligate crossovers were compromised. (g3journal.org)
  • The frequency of the 566C → T mutation was 0.96% for all Finnish samples (n = 1976), with a strong enrichment of the mutant allele in the northeastern part of the country. (nus.edu.sg)
  • Strikingly, 97% of these products arose by gene conversion. (asm.org)
  • They contain insertion sequences within or upstream of the gvpA gene. (pnas.org)
  • Extensive variation was seen in the complementarity determining region 3 sequences of these rearranged V genes. (rupress.org)
  • There have been concerns about generation of chimeric sequences as a consequence of PCR coamplification of highly conserved genes, because such sequences may lead to reports of nonexistent organisms. (asm.org)
  • To quantify the frequency of chimeric molecule formation, mixed genomic DNAs from eight actinomycete species whose 16S rRNA sequences had been determined were used for PCR coamplification of 16S rRNA genes. (asm.org)
  • Gene is a particular sequence of nucleotides along a molecule of DNA which represents a functional unit of inheritance, and it is not known to subdivide (Rieger et al. (dagris.info)
  • After exclusion of Fragile X (Fra X) syndrome, probands from these families were tested for mutations in the coding sequence of 90 known and candidate XLMR genes. (mpg.de)
  • The possibility that heterozygous mutations in these genes also predispose to disease or lower the age of disease onset has been suggested, but. (ebscohost.com)
  • Two highly penetrant genes that predispose individuals to breast cancer (BRCA1 and BRCA2) are known to confer an increased risk of prostate cancer of about 3-fold and 7-fold, respectively, in breast cancer families. (eurekamag.com)
  • And in the case of heterozygous advantage (when the Aa fitness coefficient is 100% and the others are less), a stable limiting value for the frequency of A will manifest itself (Snapshot 3). (wolfram.com)
  • Heterozygous frequency varies in parallel with gene frequency. (who.int)
  • Therefore, they believe that if we prevent the marriage of 2 gene carriers, frequencies of the thalassaemia gene and individuals heterozygous for the gene might increase over time, and ultimately rise to a level where most people are gene carriers. (who.int)
  • We screened 29 human esophageal squamous cell carcinoma (ESC) cell lines for mutations of the p53 gene through all coding exons and exon-intron junctions. (nih.gov)
  • This study provides insight into exon duplications in the ATP7A gene. (biomedcentral.com)
  • Exon 7 of the FSHR gene was first amplified using a pair of biotinylated primers. (nus.edu.sg)