Parental recessive allele frequency and recessive survival rate in human genetic disorders.
Undetected prenatal losses of homozygous recessives suggest a need for an approach to estimation of parental recessive allele frequency (q) that avoids the observed filial recessive frequency (R) in calculation. This need is met by the equation q = H/(2D + H), in which D and H represent observed filial homozygous dominant and heterozygote frequencies, respectively. Survival (w) of recessive offspring between conception and time of detection can then be estimated with the equation w = 4DR/H(2).
D000483:Alleles; D005787:Gene Frequency; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000401:mortality; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008433:Mathematics