Definition and clinical importance of haplotypes

Annu Rev Med. 2005;56:303-20. doi: 10.1146/


Advances in genotyping and sequencing technologies, coupled with the development of sophisticated statistical methods, have afforded investigators novel opportunities to define the role of sequence variation in the development of common human diseases. At the forefront of these investigations is the use of dense maps of single-nucleotide polymorphisms (SNPs) and the haplotypes derived from these polymorphisms. Here we review basic concepts of high-density genetic maps of SNPs and haplotypes and how they are typically generated and used in human genetic research. We also provide useful examples and tools available for researchers interested in incorporating haplotypes into their studies. Finally, we discuss the latest concepts for the analysis of haplotypes related to human disease, including haplotype blocks, the International HapMap Project, and the future directions of these resources.

Publication types

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

MeSH terms

  • Chromosome Mapping*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Research
  • Genetic Variation / genetics
  • Genotype*
  • Haplotypes / genetics*
  • Humans
  • Linkage Disequilibrium / genetics
  • Mathematical Computing
  • Polymorphism, Single Nucleotide / genetics*
  • Software