We analyzed all the exons and exon-intron junctions of the CYP2D6 gene from 286 Japanese individuals. We detected two novel single nucleotide polymorphisms (SNPs) 2556C>T in exon 5 (Thr261Ile) and 3835A>C in exon 8 (Lys404Gln). Both these SNPs showed a frequency of 0.002.

The much-anticipated fixed-array, genome-wide SNP genotyping technologies make large-scale genome-wide association scans now possible for large numbers of subjects. In this paper we reconsider the problem (Satagopan and Elston [2003] Genet Epidemiol 25:149-157) of optimizing a two-stage genotyping design to deal with important new issues that are relevant when studies are expanded from candidat...

PURPOSE Studies in relatives have generally yielded high heritability estimates for refractive error: twins 75-90%, families 15-70%. However, because related individuals often share a common environment, these estimates are inflated (via misallocation of unique/common environment variance). We calculated a lower-bound heritability estimate for refractive error free from such bias. METHODS Bet...

A dense set of single nucleotide polymorphisms (SNP) covering the genome and an efficient method to assess SNP genotypes are expected to be available in the near future. An outstanding question is how to use these technologies efficiently to identify genes affecting liability to complex disorders. To achieve this goal, we propose a statistical method that has several optimal properties: It can ...

Proper management and genetic monitoring of the modern European bison (Bison bonasus) population is one most important responsibilities for this species’ conservation. Up-to-date, complex analysis performed using a consistent molecular method needed as tool to further validate maintain diversity species. The identification line when pedigree data are missing, well parentage individuals, crucial...

There is growing interest in the use of single nucleotide polymorphisms for evolutionary and population genetics. We tested the efficacy of one of the available single nucleotide polymorphism techniques, single-base extension, in distinguishing four cryptic species of Microtus. Sequence data were available for these species at nuclear and mitochondrial loci and their identity could be independe...

interferon- gamma (ifn- γ) is an important immune regulator and inflammatory cytokine which is implicated in the pathogenesis of multiple sclerosis (ms). a single nucleotide polymorphism, t to a, at position +874 in the first intron has previously been shown. this polymorphism is associated with ifn- γ production level. to study the effect of this polymorphism on susceptibility to multiple scle...

BACKGROUND Atopic dermatitis is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease. AIMS To evaluate whether single nucleotide polymorphisms in the TLR2 gene c.2258C>T (R753Q) (rs5743708) and TLR2 c.-148+1614T>A (A-16934T) (rs4696480) (NM_0032643) are associated with atopic dermatitis in Tu...

Genetic Analysis Workshop 18 provided a platform for evaluating genomic prediction power based on single-nucleotide polymorphisms from single-nucleotide polymorphism array data and sequencing data. Also, Genetic Analysis Workshop 18 provided a diverse pedigree structure to be explored in prediction. In this study, we attempted to combine pedigree information with single-nucleotide polymorphism ...