A heterozygote-homozygote test of Hardy-Weinberg equilibrium

Jin J. Zhou, Kenneth Lange, Jeanette C. Papp, Janet S. Sinsheimer

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


The century-old Hardy-Weinberg law remains fundamental to population genetics. Typically Hardy-Weinberg equilibrium is tested in unrelated individuals using a χ2 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 γ 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.

Original languageEnglish (US)
Pages (from-to)1495-1500
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number11
StatePublished - 2009

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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