Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.

Abstract excerpt

The classic theory of mutation-selection balance predicts the equilibrium frequency of genetic variation under negative selection. The model predicts a simple relationship between the total frequency of deleterious variants, mutation rate, and strength of selection, with different functions for recessive and (co)dominant genes. In this study, we investigate whether genes associated with human recessive disorders...

Topics

• Genes, Recessive
• Humans
• Heterozygote
• Gene Frequency
• Selection, Genetic
• Genetic Pleiotropy