The origin of the major cystic fibrosis mutation (ΔF508) in European populations

  title={The origin of the major cystic fibrosis mutation (ΔF508) in European populations},
  author={N. Morral and J. Bertranpetit and X. Estivill and V. Nunes and T. Casals and J. Gim{\'e}nez and A. Reis and R. Varon-Mateeva and M. Macek and L. Kalaydjieva and D. Angelicheva and R. Dancheva and G. Romeo and M. P. Russo and S. Garnerone and G. Restagno and M. Ferrari and C. Magnani and M. Claustres and M. Desgeorges and M. Schwartz and M. Schwarz and B. Dallapiccola and G. Novelli and C. F{\'e}r{\'e}c and M. D. Arce and M. Nemeti and J. Kere and M. Anvret and N. Dahl and Ľ. K{\'a}da{\vs}i},
  journal={Nature Genetics},
  • N. Morral, J. Bertranpetit, +28 authors Ľ. Kádaši
  • Published 1994
  • Biology
  • Nature Genetics
  • ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and evolution of ΔF508 chromosomes in Europe. Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the… CONTINUE READING
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