G542X as a probable Phoenician cystic fibrosis mutation

Hum Biol. 1997 Jun;69(3):419-25.


When analyzed by origin, the frequency of the G542X cystic fibrosis (CF) mutation (the second most common CF mutation in Europe after DF508) varies between population groups in Europe. We show here that the frequency of G542X varies among different towns or regions of origin, being lower in northeastern Europeans than in southwestern Europeans. The G542X mutation mapping that we have defined by a multiple regression of G542X frequencies covers 28 countries (53 geographic points) and is based on data from 50 laboratories. The more elevated values of G542X frequency correspond to ancient sites of occupation by occidental Phoenicians.

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Emigration and Immigration*
  • Europe
  • Gene Frequency / genetics*
  • Humans
  • Mutation / genetics*
  • Regression Analysis


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator