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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Chillon M, Casals T, Gimenez FJ, Badia H, Morral N, Bosch A, Nunes V, Estivill X (1990) Use of the polymerase chain reaction technique in the genetic analysis of cystic fibrosis. Med Clin (Barc) 94:444–447
Dahl N, Grandell U, Martinson T, Allen M, Johansson L, Stolpe L, Gyllensten U, Hjelte L, Kollberg H, Strandvik B, Wahlstrøm J, Anvret M (1993) Frequency of four cystic fibrosis mutations in a Swedish population. Acta Paediatr Scand 82:609
Eiklid K, Tranebjærg L, Eiken HG, Pedersen JC, Michaelsen H, Fluge G, Schwartz M, Nielsen BR, Bolle R, Skyberg D, Boman H, Berg K (1993) Frequency of ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients. Clin Genet 44:12–14
Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, Baiget M, Kere J, Williamson R, Farrall M (1987) Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1:257–263
European Working Group on CF Genetics (EWGCFG) (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum Genet 85:436–441
Ferec C, Audrezet MP, Mercier B, Guillermit H, Moullier P, Quere I, Verlingue C (1992) Systematic screening for mutations in the cystic fibrosis gene: new implications for carrier detection. Nature Genet 1:188–191
Kollberg H (1982) Incidence and survival curves of cystic fibrosis in Sweden. Acta Paediatr Scand 71:197–202
Morral N, Estivill X (1992) Multiplex PCR amplification of the three microsatellites within the CFTR gene. Genomics 13:1362–1364
Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Giménez J, Reis A, Varon-Mateeva R, Macek Jr M, Kalaydjiieva L, Angelicheva D, Dancheva R, Romeo G, Russo MP, Garnerone S. Restagno G, Ferrari M, Magnani C, Claustres M, Desgeorges M, Schwartz M, Schwarz M, Dallapiccola B, Novelli G, Ferec C, deArc M, Nemeti M, Kere J, Anvret M, Dahl N, Kadasi L (1994) The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nature Genet 7:169–175
Nielsen OH, Thomsen BL, Green A, Andersen PK, Hauge M, Schiøtz PO (1988) Cystic fibrosis in Denmark 1945 to 1985. Acta Paediatr Scand 77:836–841
Nørgaard-Pedersen B, Høgdall E, Iitia A, Arends J, Dahlen P. Vuust J (1993) Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: an anonymous pilot study in Denmark. Screening 2:1–11
Rommens J, Kerem B-S, Greer W, Chang P, Tsui L-C, Ray P (1990) Rapid nonradioactive detection of the major CF mutation. Am J Hum Genet 46:395–396
Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487–491
Schwartz M, Johansen HK, Koch C, Brandt NJ (1990) Frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Denark. Hum Genet 85:427–428
Schwartz M, Brandt NJ, Skovby F (1993) Screening for carriers of cystic fibrosis among pregnant women. A pilot study. Eur J Hum Genet 1:239–244
West JF (1972). Faroe. The emergence of a nation. Hurst, London
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00209491