نتایج جستجو برای: allele locus
تعداد نتایج: 205065 فیلتر نتایج به سال:
Breast cancer risk is a polygenic trait. To identify breast cancer modifier alleles that have a high population frequency and low penetrance we used a comparative genomics approach. Quantitative trait loci (QTL) were initially identified by linkage analysis in a rat mammary carcinogenesis model followed by verification in congenic rats carrying the specific QTL allele under study. The Mcs5a loc...
We present a new method that allows rapid determination of allele frequencies at loci exhibiting length polymorphism. In this method a fluorescence-labeled PCR primer is used to amplify the polymorphic region from pooled DNA samples originating from a large number of individuals. The fluorescent PCR products are separated by gel electrophoresis on an automatic DNA sequencer and the relative amo...
Genome-wide association studies identified numerous disease risk loci. Delineating molecular mechanisms influenced by cis-regulatory variants is essential to understand gene regulation and ultimately disease pathophysiology. Combining bioinformatics and public domain chromatin information with quantitative proteomics supports prediction of cis-regulatory variants and enabled identification of a...
Human sex hormone binding globulin (SHBG) level alteration and SHBG gene mutations, especially in rs6259 and rs727428 loci, are associated with male infertility. In this study, the rs6259 and rs727428 loci in SHBG gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to explore the direct relation between these 2 loci and male infertility in Han pop...
Imprinting at the H19/Igf2 locus depends on a differentially methylated domain (DMD) acting as a maternal-specific, methylation-sensitive insulator and a paternal-specific locus of hypermethylation. Four repeats in the DMD bind CTCF on the maternal allele and have been proposed to recruit methylation on the paternal allele. We deleted the four repeats and assayed the effects of the mutation at ...
S locus glycoprotein (SLG) and S locus receptor kinase (SRK) cDNAs were isolated from an S allele present in a number of self-compatible Brassica napus lines. This Aí0 allele did not segregate with self-incompatibility in crosses involving other self-incompatible B. napus lines. The SLG-Aí0 cDNA was found to contain an intact open reading frame and was predicted to encode an SLG protein with se...
The ABO locus in humans is characterized by elevated heterozygosity and very similar allele frequencies among populations scattered across the globe. Using knowledge of ABO protein function, we generated a simple model of asymmetric negative frequency dependent selection and genetic drift to explain the maintenance of ABO polymorphism and its loss in human populations. In our models, regardless...
The recent large genotyping studies have identified a new repertoire of disease susceptibility loci of unknown function, characterized by high allele frequencies and low relative risks, lending support to the common disease-common variant (CDCV) hypothesis. The variants explain a much larger proportion of the disease etiology, measured by the population attributable fraction, than of the famili...
The aim of this study was to investigate the effect of different strategies for handling lowquality or missing data on prediction accuracy for direct genomic values of protein yield, mastitis and fertility using a Bayesian variable model and a GBLUP model in the Danish Jersey population. The data contained 1 071 Jersey bulls that were genotyped with the Illumina Bovine 50K chip. After prelimina...
S locus glycoprotein (SLG) and S locus receptor kinase (SRK) cDNAs were isolated from an S allele present in a number of self-compatible Brassica napus lines. This A10 allele did not segregate with self-incompatibility in crosses involving other self-incompatible B. napus lines. The SLG-A10 cDNA was found to contain an intact open reading frame and was predicted to encode an SLG protein with se...
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