Homozygosity and linkage disequilibrium

Genetics. 2002 Apr;160(4):1707-19. doi: 10.1093/genetics/160.4.1707.

Abstract

We illustrate how homozygosity of haplotypes can be used to measure the level of disequilibrium between two or more markers. An excess of either homozygosity or heterozygosity signals a departure from the gametic phase equilibrium: We describe the specific form of dependence that is associated with high (low) homozygosity and derive various linkage disequilibrium measures. They feature a clear biological interpretation, can be used to construct tests, and are standardized to allow comparison across loci and populations. They are particularly advantageous to measure linkage disequilibrium between highly polymorphic markers.

Publication types

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

MeSH terms

  • Genetic Markers
  • Haplotypes
  • Homozygote*
  • Humans
  • Linkage Disequilibrium*
  • Recombination, Genetic
  • Sample Size

Substances

  • Genetic Markers