HIGH-INCIDENCE OF CYSTIC-FIBROSIS ON THE FAROE ISLANDS - A MOLECULAR AND GENEALOGICAL STUDY

Citation
M. Schwartz et al., HIGH-INCIDENCE OF CYSTIC-FIBROSIS ON THE FAROE ISLANDS - A MOLECULAR AND GENEALOGICAL STUDY, Human genetics, 95(6), 1995, pp. 703-706
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
95
Issue
6
Year of publication
1995
Pages
703 - 706
Database
ISI
SICI code
0340-6717(1995)95:6<703:HOCOTF>2.0.ZU;2-3
Abstract
We have studied the genetics of cystic fibrosis (CF) in The Faroe Isla nds. Based on the number of affected children born during the period 1 953-1993, the incidence of CF at birth is 1:1775, which is more than t wice 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 foun d it to be the only CF mutation in this population. Based on testing 8 81 unrelated control individuals, the carrier frequency was estimated to be 1:24, giving a calculated incidence of 1:2300, Genealogical stud ies 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 i n Brittany, Ireland, Wales or the North West of Scotland.