title: The origin of the major cystic fibrosis mutation (delta F508) in European populations.
abstract: 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.
authors.affiliation: Institut de Recerca Oncològica, Hospital Duran i Reynals, Barcelona, Catalunya, Spain.
authors.forename: N
authors.initials: N
authors.lastname: Morral
authors.forename: J
authors.initials: J
authors.lastname: Bertranpetit
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: V
authors.initials: V
authors.lastname: Nunes
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: J
authors.initials: J
authors.lastname: Giménez
authors.forename: A
authors.initials: A
authors.lastname: Reis
authors.forename: R
authors.initials: R
authors.lastname: Varon-Mateeva
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
mesh_terms: D005075:Biological Evolution; D003550:Cystic Fibrosis / Q000235:genetics*; D005060:Europe; D005819:Genetic Markers; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D012091:Repetitive Sequences, Nucleic Acid; D013997:Time Factors
chemical_list: D005819:Genetic Markers