Figure 2.

Illustration of the difference between de novo and recessive paradigms in shaping the frequency of Mendelian phenotypes

In this example, the two paradigms are compared with the same gene, COL1A1, mutation of which can cause autosomal dominant osteogenesis imperfecta as well as autosomal recessive Ehler-Danlos syndrome. ^∗Note that qF is what determines the frequency of affected individuals in inbred populations rather than q² (see text for explanation).