Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes

摘要

This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populations with a considerable number of consanguineous matings.