The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

Abstract

The dynamics of X linkage was derived by Haldane in 1935. It is clear that the majority of mutations to an X linked lethal are new and that methods of control based on relatives of known cases can have limited impact on future incidence. The ability to define and track neighbouring loci allows some carriers who are daughters of carriers to be detected, and possible carriers to be excluded, with high reliability. Fetal diagnosis may also be made in the same way, but not without a substantial casualty rate. The precision of such diagnosis by proxy is limited both by the estimate of the recombination fraction and its variance, and can rarely exceed 1/s where the recombinational data are based on s informative meioses. Bracketing loci provide greater security from failure to diagnose cases but may involve substantial casualty rates. The estimation of both failure rates and casualty rates is discussed.