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A genome-wide map of single nucleotide polymorphisms (SNP) and a pattern of linkage disequilibrium (LD) between their alleles are being established in three main ethnic groups. An important question is the applicability of such maps to different populations within a main ethnic group. Therefore, we have developed high-resolution SNP, haplotype and LD maps of vitamin D receptor gene region in large samples from five populations. Comparative analysis reveals that the LD patterns are identical in all four European populations tested with two small regions of 1.3 and 5.7 kb at which LD is disrupted completely resulting in three block-like regions over which there is significant and extensive LD. In an African population the pattern is similar, but two additional LD-breaking spots are also apparent. This LD pattern suggests combined action of recombination hotspots and founder effects, but cannot be explained by random recombination and genetic drift alone. Direct comparison indicates that the tag SNPs selected in one European population effectively predict the non-tag SNPs in the other Europeans, but not in the Gambians, for this region.

Original publication

DOI

10.1093/hmg/ddh169

Type

Journal article

Journal

Hum Mol Genet

Publication Date

01/08/2004

Volume

13

Pages

1633 - 1639

Keywords

Chromosomes, Human, Pair 12, Gambia, Great Britain, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Receptors, Calcitriol