Cystic fibrosis in Finland

a molecular and genealogical study

Juha Kere, Reijo Norio, Erkki Savilahti, Xavier P. Estivill, Albert de la Chapelle

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

The incidence of cystic fibrosis (CF) in Finland is one tenth that in other Caucasian populations. To study the genetics of CF in Finland, we used a combined molecular and genealogical approach. Out of the 20 Finnish families with a living CF patient, 19 were typed for eight closely linked restriction fragment length polymorphisms (RFLP) at the MET, D7S8, and D7S23 loci. The birthplaces of the parents and grandparents were traced using population registries. Allele and haplotype frequencies in Finland are similar to those of other European and North American populations, but are modified by sampling: two regional CF gene clusters, evidently the results of a founder effect, were identified. Generally, the gene was evenly distributed over the population, carrier frequency being estimated at approximately 1.3%. We conclude that CF in Finland is caused by the common Caucasian mutation(s), and that the low frequency of the gene can be explained by a negative sampling effect and genetic drift.

Original languageEnglish
Pages (from-to)20-25
Number of pages6
JournalHuman Genetics
Volume83
Issue number1
DOIs
Publication statusPublished - Aug 1989
Externally publishedYes

Fingerprint

Finland
Cystic Fibrosis
Gene Frequency
Population
Founder Effect
Genetic Drift
Multigene Family
Restriction Fragment Length Polymorphisms
Haplotypes
Registries
Parents
Mutation
Incidence
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Cystic fibrosis in Finland : a molecular and genealogical study. / Kere, Juha; Norio, Reijo; Savilahti, Erkki; Estivill, Xavier P.; de la Chapelle, Albert.

In: Human Genetics, Vol. 83, No. 1, 08.1989, p. 20-25.

Research output: Contribution to journalArticle

Kere, J, Norio, R, Savilahti, E, Estivill, XP & de la Chapelle, A 1989, 'Cystic fibrosis in Finland: a molecular and genealogical study', Human Genetics, vol. 83, no. 1, pp. 20-25. https://doi.org/10.1007/BF00274141
Kere, Juha ; Norio, Reijo ; Savilahti, Erkki ; Estivill, Xavier P. ; de la Chapelle, Albert. / Cystic fibrosis in Finland : a molecular and genealogical study. In: Human Genetics. 1989 ; Vol. 83, No. 1. pp. 20-25.
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