Although monogenic diseases are considered to be rare, some are relatively frequent either in large parts of the world or in more delineated regions. Often the relative high frequency is limited to some subpopulations or even small communities. Various processes influence the prevalence of genetic diseases in the population, in particular, genetic heterogeneity, new mutations, selection, migration or genetic drift.
Keywords: genetic heterogeneity; founder effect; selection; mutation; consanguinity




