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

Eur J Pediatr. 2000 Jul;159(7):496-9. doi: 10.1007/s004310051317.

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.

Conclusion: 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.

MeSH terms

  • Africa
  • Child
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis
  • Europe
  • Founder Effect
  • Genetic Markers / genetics
  • Genetics, Population*
  • Genotype
  • Humans
  • Phenotype

Substances

  • CFTR protein, human
  • Genetic Markers
  • Cystic Fibrosis Transmembrane Conductance Regulator