title: Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles.
abstract: Examination of the European geographic patterns of the 10 relatively most frequent cystic fibrosis mutations, other than the DF508 one, shows that a founder effect is apparent for a number of them. The most evident examples are for the W1282X mutation in Jews, with a probable Asian origin, and the G551D and R117H mutations in Celts. Geographic distributions indicate that the main focus of the 621 + 1 G-->T and DI507 mutations is probably located in Wales. Also, the R1162X mutation probably originates from a circumscribed north Italian region. The N1303K mutation has a wide range in Europe with a clear preponderance in southern countries. Even the relatively common G542X and 1717.1 G-->A mutations have a local preponderance in Spain and Sicily and in northern Italy, respectively. Likelihood estimates for recurrent mutation and identity by descent strongly support the hypothesis of recurrence for the (mainly German) mutation R553X.
authors.affiliation: International Institute of Anthropology, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: S
authors.initials: S
authors.lastname: Hazout
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D005060:Europe; D018703:Founder Effect; D005787:Gene Frequency; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic