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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 ΔF508 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, giving 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 ΔF508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.

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Schwartz, M., Sørensen, N., Brandt, N.J. et al. High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study. Hum Genet 95, 703–706 (1995). https://doi.org/10.1007/BF00209491

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Keywords

  • Internal Medicine
  • Cystic Fibrosis
  • Metabolic Disease
  • Carrier Frequency
  • Control Individual