Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene
作者： Sergey Nejentsev , Lisa Godfrey , Hywel Snook , Helen Rance , Sarah Nutland
DOI: 10.1093/HMG/DDH169
关键词: Single-nucleotide polymorphism 、 Haplotype 、 Founder effect 、 Biology 、 Genetics 、 Population 、 Tag SNP 、 Linkage disequilibrium 、 Allele 、 Genetic drift
摘要: A genome-wide map of single nucleotide polymorphisms (SNP) and a pattern linkage disequilibrium (LD) between their alleles are being established in three main ethnic groups. An important question is the applicability such maps to different populations within group. Therefore, we have developed high-resolution SNP, haplotype LD vitamin D receptor gene region large samples from five populations. Comparative analysis reveals that patterns identical all four European tested with two small regions 1.3 5.7 kb at which disrupted completely resulting block-like over there significant extensive LD. In an African population similar, but additional LD-breaking spots also apparent. This suggests combined action recombination hotspots founder effects, cannot be explained by random genetic drift alone. Direct comparison indicates tag SNPs selected one effectively predict non-tag other Europeans, not Gambians, for this region.
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