title: High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study.
abstract: We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.
authors.affiliation: Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: N
authors.initials: N
authors.lastname: Sørensen
authors.forename: N J
authors.initials: NJ
authors.lastname: Brandt
authors.forename: E
authors.initials: E
authors.lastname: Høgdall
authors.forename: T
authors.initials: T
authors.lastname: Holm
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics*; D003718:Denmark / Q000453:epidemiology; D005260:Female; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy