Human Genetic Variation and Disease

Abstract

Variation in the prevalence of genetic diseases results from the action of the evolutionary processes of mutation, natural selection, genetic drift, and gene flow. Genetic markers can be studied in populations to help determine the ways in which these processes interact to influence disease prevalence. This enhances our understanding of the origins and evolution of genetic diseases. This article will review the ways in which genetic markers are used to study disease variation in populations, using specific genetic diseases as examples.