Chapter 6: Founder variations in isolated populations

Abstract

Isolated populations, also called population isolates and genetic isolates, present several characteristic features that make them useful in the study of the genetic basis of both Mendelian and complex disorders. The consensus regarding population isolates is that they have been founded by a small number of individuals, followed by a period of genetic isolation and growth. In modern times characterized by widespread mobility of people around the world, few human populations can be considered genetic isolates. In this chapter we outline the reasons for their usefulness in genetic studies and describe the role they have played and continue to play in gene-mapping efforts. Specific examples of gene identification are provided.