Role of evolutionary history on haplotype block structure in the human genome: implications for disease mapping

Curr Opin Genet Dev. 2003 Dec;13(6):569-75. doi: 10.1016/j.gde.2003.10.010.


With the completion of the first draft of the human genome sequencing project, a new challenge is to characterize patterns of linkage disequilibrium and haplotype structure across genomic regions to identify mutations associated with complex disease. Recent work shows considerable linkage disequilibrium heterogeneity, where genomic regions of extended haplotype blocks are punctuated by recombination hotspots. In this review we explore some of the current approaches to defining and characterizing 'hapblocks', mechanisms by which hapblocks may be generated, and the implications this block-like structure may have for successfully mapping mutations associated with complex disease.

Publication types

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

MeSH terms

  • Biological Evolution*
  • Chromosome Mapping*
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease*
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium*
  • Recombination, Genetic