Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populations.

ABSTRACT: Previous investigations have reported linkage disequilibrium occurring between nearby polymorphisms, a block-like structure for such relationships, some instances where surprisingly few haplotypes are found and regions of extended homozygosity which are especially marked around centromeres and which are especially common on the X chromosome. We investigated the distribution and nature of regions of extended homozygosity in a sample of 1411 subjects included in a genome wide association study. Regions of extended homozygosity over 1Mb are common, with an average of 35.9 occurring per subject, and containing on average 73 homozygous markers. They have a markedly non-random distribution. They are relatively common on the X chromosome and are seen at centromeres but are also concentrated at ot

SUBMITTER: Curtis D 

PROVIDER: S-EPMC2343471 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature