title: Homozygosity and linkage disequilibrium.
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.
authors.affiliation: Department of Human Genetics and Statistics, University of California, Los Angeles, California 90095-7088, USA. csabatti@mednet.ucla.edu
authors.forename: Chiara
authors.initials: C
authors.lastname: Sabatti
authors.forename: Neil
authors.initials: N
authors.lastname: Risch
mesh_terms: D005819:Genetic Markers; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D011995:Recombination, Genetic; D018401:Sample Size
chemical_list: D005819:Genetic Markers