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

N. Morral, J. Bertranpetit, X. Estivill, V. Nunes, T. Casals, J. Giménez, A. Reis, R. Varon-Mateeva, M. Macek, L. Kalaydjieva, D. Angelicheva, R. Dancheva, G. Romeo, M. P. Russo, S. Garnerone, G. Restagno, M. Ferrari, C. Magnani, M. Claustres, M. DesgeorgesM. Schwartz, M. Schwarz, B. Dallapiccola, G. Novelli, C. Ferec, M. De Arce, M. Nemeti, J. Kere, M. Anvret, N. Dahl, L. Kadasi

Research output: Contribution to journalArticlepeer-review


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 different frequencies of ΔF508 in Europe.

Original languageEnglish
Pages (from-to)169-175
Number of pages7
JournalNature Genetics
Issue number2
Publication statusPublished - Jun 1994

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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