Haplotype blocks and linkage disequilibrium in the human genome

Nat Rev Genet. 2003 Aug;4(8):587-97. doi: 10.1038/nrg1123.


There is great interest in the patterns and extent of linkage disequilibrium (LD) in humans and other species. Characterizing LD is of central importance for gene-mapping studies and can provide insights into the biology of recombination and human demographic history. Here, we review recent developments in this field, including the recently proposed 'haplotype-block' model of LD. We describe some of the recent data in detail and compare the observed patterns to those seen in simulations.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Chromosome Mapping
  • Genome, Human*
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium*
  • Recombination, Genetic