Genetic Studies of Deafness and of Retinitis Pigmentosa

In experimental animals where the generation time is short and matings can be controlled experimentally, it is a relatively simple task to determine whether a trait is genetic, how it is inherited, and where the causal gene pair is located. However, in human genetics, inferences must be drawn by pooling observations on many small families in which the trait of interest has occurred. The condition may be etiologically heterogeneous, resulting from environmental causes in some families and showing variable patterns of inheritance in others. Hereditary deafness and retinitis pigmentosa (RP) provide instructive examples of the problems involved in the genetic analysis of family data in man.