The geographic distribution of cystic fibrosis mutations gives clues about population origins.

Abstract

Information regarding three of the more common cystic fibrosis mutations is presented (delta F508, G542X, N13031K) to support the concept of a geography associated with cystic fibrosis mutations. We present the hypothesis that a knowledge of the geography of cystic fibrosis mutations is important for an understanding of genotype-phenotype correlations, gene flow, historical population migration and cystic fibrosis screening. A new method of study of mankind's cultural spread is being revealed and the survival of the various mutations supports the concept that they may provide a selective advantage to the carrier.