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Genetics. 2002 Apr;160(4):1707-19.

Homozygosity and linkage disequilibrium.

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  • 1Department of Human Genetics and Statistics, University of California, Los Angeles, California 90095-7088, USA. csabatti@mednet.ucla.edu


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.

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