THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS

Delta F508 is the most frequent cystic fibrosis (CF) mutation and acco unts for approximately 70% of CF chromosomes worldwide. Three highly p olymorphic microsatellite markers have been used to study the origin a nd evolution of Delta F508 chromosomes in Europe. Haplotype data demon strate that Delta F508 occurred more than 52,000 years ago, in a popul ation genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are r esponsible for the different frequencies of Delta F508 in Europe.