Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium.

ABSTRACT: Genetic variation in the human population may lead to functional variants of genes that contribute to risk for common chronic diseases such as cancer. In an effort to detect such possible predisposing variants, we constructed haplotypes for a candidate gene and tested their efficacy in association studies. We developed haplotypes consisting of 14 biallelic neutral-sequence variants that span 142 kb of the ATM locus. ATM is the gene responsible for the autosomal recessive disease ataxia-telangiectasia (AT). These ATM noncoding single-nucleotide polymorphisms (SNPs) were genotyped in nine CEPH families (89 individuals) and in 260 DNA samples from four different ethnic origins. Analysis of these data with an expectation-maximization algorithm revealed 22 haplotypes at this locus, with three m

SUBMITTER: Bonnen PE 

PROVIDER: S-EPMC1287921 | biostudies-literature | 2000 Dec

REPOSITORIES: biostudies-literature