the diacylglycerol acyltransferase 1 gene (dgat1) was identified as a strong candidate gene affecting mutton quality traits in sheep. single nucleotide polymorphism creates a single base mutation (c to t) in agct site of endonuclease alui. dgat1 is one of the candidate genes to improve carcass characteristics in feedlot animals. in order to study area t487c in exon 17 of the dgat1 polymorphism,...

The International HapMap Consortium recently completed genotyping over 3.8 million single nucleotide polymorphisms (SNPs) in three major populations, and the results of studying patterns of linkage disequilibrium indicate that characterization of 300,000-500,000 tag SNPs is sufficient to provide good genomic coverage for linkage-disequilibrium-based association studies in many populations. Thes...

n engl j med 358;2 www.nejm.org january 10, 2008 105 single-nucleotide polymorphisms (SNPs). His children, who were concerned about his health, spent $1,000 to give him the analysis as a holiday gift. The test report states that his genomic profile is consistent with an increased risk of both heart disease and diabetes, and because the company that performed the analysis stated that the test wa...

OBJECTIVE The objective of this study was to analyze the lung cancer related SNPs (Single Nucleotide Polymorphisms) and CNVs (copy number variations) with SNP microarrays, as well as to identify the CNV related genes and functions. MATERIALS AND METHODS The GSE29172 SNP array data were downloaded from Gene Expression Omnibus, including 100%, 30%, 50%, 70% cancer samples, and the mixture is ma...

There is an increasing interest in single nucleotide polymorphism (SNP) typing in the forensic field, not only for the usefulness of SNPs for defining Y chromosome or mtDNA haplogroups or for analyzing the geographical origin of samples, but also for the potential applications of autosomal SNPs. The interest of forensic researchers in autosomal SNPs has been attracted due to the potential advan...

The Illumina BovineLD BeadChip was designed to support imputation to higher density genotypes in dairy and beef breeds by including single-nucleotide polymorphisms (SNPs) that had a high minor allele frequency as well as uniform spacing across the genome except at the ends of the chromosome where densities were increased. The chip also includes SNPs on the Y chromosome and mitochondrial DNA loc...

An important piece of that information is the level of population-wide linkage disequilibrium (LD) in the region. Linkage disequilibrium refers to the non-random association of alleles at different loci and quantifies the level of informativeness between different markers. As such, it dictates marker density in marker-based studies (Goldstein and Weale, 2001; Weiss and Clark, 2002). A long exte...

Background: CDKN2A, encoding two important tumor suppressor proteins p16 and p14, is a tumor suppressor gene. Mutations in this gene and subsequently the defect in p16 and p14 proteins lead to the downregulation of RB1/p53 and cancer malignancy. To identify the structural and functional effects of mutations, various powerful bioinformatics tools are available. The aim of this study is the ident...

genetic factors underlying common disease are largely unknown. Discovery of disease-causing genes will transform our knowledge of the genetic contribution to human disease, lead to new genetic screens, and underpin research into new cures and improved lifestyles. The se-quencing of the human genome has catalyzed efforts to search for disease genes by the strategy of associating sequence variant...