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

• Published in: Nature genetics Vol. 7; no. 2; pp. 169 - 175
• Main Authors: Russo, M.P, Restagno, G, Nemeti, M, Ferec, C, Varon-Mateeva, R, Angelicheva, D, Dancheva, R, Romeo, G, Garnerone, S, Schwarz, M, Morral, N, Schwartz, M, Nunes, V, Reis, A, Kalaydjieva, L, Dallapiccola, B, Ferrari, M, Kadasi, L, Novelli, G, Macek, M, de Arce, M, Giménez, J, Desgeorges, M, Estivill, X, Kere, J, Claustres, M, Casals, T, Dahl, N, Anvret, M, Magnani, C, Bertranpetit, J
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.06.1994
• Subjects: Biological and medical sciences; Biological Evolution; Cystic Fibrosis - genetics; Europe; Gastroenterology. Liver. Pancreas. Abdomen; Genetic Markers; Genetic Variation; Genetics, Population; Haplotypes; Humans; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Medical sciences; Mutation; Other diseases. Semiology; Repetitive Sequences, Nucleic Acid; Time Factors; Europe; Human; Genetic marker; Respiratory disease; Epidemiology; Population genetics; Genetic disease; Mucoviscidosis; Deletion; Digestive diseases; Mutation; Haplotype; Pancreatic disease; Polymorphism
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng0694-169

delta F508 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 delta F508 chromosomes in Europe. Haplotype data demonstrate that delta F508 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 delta F508 in Europe.