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Effect of population associations and reduced penetrance on observed and expected genotype frequencies in a simple genetic model: application to HLA and insulin dependent diabetes mellitus
Author(s) -
FALK C. T.,
MENDELL N. R.,
RUBINSTEIN P.
Publication year - 1983
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1983.tb00983.x
Subject(s) - penetrance , allele , loss of heterozygosity , genotype , locus (genetics) , genetics , heterozygote advantage , allele frequency , population , biology , genotype frequency , dominance (genetics) , human leukocyte antigen , medicine , phenotype , gene , antigen , environmental health
Summary The observed and Hardy‐Weinberg‐expected frequencies for (HLA) marker heterozygotes in a disease population are calculated where it is assumed that the disease is caused by either homozygosity or heterozygosity (with reduced pentrance) for a disease susceptibility allele at a disease locus, that allele being positively associated with both of the relevant alleles at the marker locus (the single susceptibility allele model of Svejgaard & Ryder, 1981). It is shown that the observed frequency is always less than or equal to the H‐W expectation, with the (observed/expected) ratio decreasing as the degree of dominance increases.