A heterozygote-homozygote test of Hardy-Weinberg equilibrium.
The century-old Hardy-Weinberg law remains fundamental to population genetics. Typically Hardy-Weinberg equilibrium is tested in unrelated individuals using a chi(2) goodness-of-fit test that compares expected and observed numbers of heterozygotes and homozygotes. In this report, we propose a likelihood ratio test for Hardy-Weinberg equilibrium that accommodates a mixture of pedigree and random sample data. The underlying statistical model depends on a parameter gamma determining the ratio of heterozygous genotypes to homozygous genotypes among pedigree founders. As our heterozygous-homozygous test accommodates markers with dominant and recessive alleles, it can handle the phase ambiguities encountered in combining several linked single nucleotide polymorphisms into a single supermarker. No prior haplotyping is necessary. Our experience on real and simulated data suggests that the heterozygous-homozygous test has good type-one error and power.
Department of Biomathematics, The University of California, Los Angeles, 90095, USA.
Jin J
JJ
Zhou
Kenneth
K
Lange
Jeanette C
JC
Papp
Janet S
JS
Sinsheimer
D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005828:Genetics, Population; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016013:Likelihood Functions; D008297:Male; D008957:Models, Genetic; D015233:Models, Statistical; D020641:Polymorphism, Single Nucleotide
D005819:Genetic Markers