The Epidemiology of Rare Heritable Traits such as Split-Hand and Foot Malformation (SHFM)

Deleterious traits with autosomal dominant mode of inheritance have low prevalence maintained by new mutations.Traditionally, estimates of mutation rate have been made by the assumed deterministic relation between prevalence and the balancing forces of selection and mutation.In this paper a simple model introducing stochastic elements is given.It illustrates how there can be substantial fluctuations in prevalence from generation to generation.The trait split-hand and foot malformation (SHFM) is used as Case Report