Report

Haplotype Variation and Linkage Disequilibrium in 313 Human Genes

Science  20 Jul 2001:
Vol. 293, Issue 5529, pp. 489-493
DOI: 10.1126/science.1059431

You are currently viewing the abstract.

View Full Text

Via your Institution

Log in through your institution

Log in through your institution


This article has a correction. Please see:

Abstract

Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

  • * To whom correspondence should be addressed. E-mail: c.stephens{at}genaissance.com

View Full Text

Related Content