Haplotype homozygosity and derived alleles in the human genome

Am J Hum Genet. 2006 Jun;78(6):1053-9. doi: 10.1086/504160. Epub 2006 Apr 5.

Abstract

Haplotype-based techniques are being used to estimate the relative age of alleles--particularly in screening loci for signals of recent positive selection--but does this approach capture even coarse age differences? Using simulations and empirical data from the International HapMap Project, we show that a simple pairwise metric of haplotype homozygosity gives significantly higher mean values for human single-nucleotide-polymorphism alleles that appear to be derived than for those that appear to be ancestral, as determined by comparison with the chimpanzee genome. Our results support the use of haplotype-based techniques, such as extended haplotypic homozygosity, to assess the age of alleles.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Alleles*
  • Genome, Human / genetics*
  • Haplotypes / genetics*
  • Homozygote*
  • Humans