The structure of haplotype blocks in the human genome

Science. 2002 Jun 21;296(5576):2225-9. doi: 10.1126/science.1069424. Epub 2002 May 23.


Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose. As part of The SNP Consortium Allele Frequency Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases of the human genome) in samples from Africa, Europe, and Asia. We show that the human genome can be parsed objectively into haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed. The boundaries of blocks and specific haplotypes they contain are highly correlated across populations. We demonstrate that such haplotype frameworks provide substantial statistical power in association studies of common genetic variation across each region. Our results provide a foundation for the construction of a haplotype map of the human genome, facilitating comprehensive genetic association studies of human disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Alleles
  • Asian People / genetics
  • Black People / genetics
  • Black or African American
  • China
  • Chromosome Mapping
  • Computational Biology
  • Computer Simulation
  • Europe
  • Genetic Variation
  • Genome, Human*
  • Genotype
  • Haplotypes*
  • Humans
  • Japan
  • Linkage Disequilibrium
  • Models, Genetic
  • Polymorphism, Single Nucleotide*
  • Recombination, Genetic
  • White People / genetics