Cystic fibrosis in a low-incidence population: two major mutations in Finland

Juha Kere, Xavier Estivill, Miguel Chillón, Núria Morral, Virginia Numes, Reijo Norio, Erkki Savilahti, Albert de la Chapelle

Research output: Contribution to journalArticle

30 Scopus citations


The incidence of cystic fibrosis (CF) in Finland, 1:25 000 newborn, is one of the lowest in Caucasian populations. The ΔF508 mutation accounts for 18/40 (45%) of CF chromosomes in Finland. Other mutations were therefore sought among the remaining 55%. Twelve out of 40 chromosomes (30%) were found to carry 394delTT, whereas G542X and 3732delA were each detected in one chromosome. Eight mutations remained unidentified using a testing panel for 26 mutations. Mutation 394delTT was associated exclusively with haplotype 23-36-13. Five unknown mutations were associated with different haplotypes for microsatellite markers, whereas three shared the same haplotype. Most ΔF508 mutations and all unidentified mutations originated from regions of old and dense settlement in the coastal regions, whereas 394delTT was geographically clustered and enriched in a rural location, consistent with a local founder effect. The remote location of Finland and her population history give a plausible explanation for the rarity of CF in Finland.

Original languageEnglish (US)
Pages (from-to)162-166
Number of pages5
JournalHuman Genetics
Issue number2
StatePublished - Feb 1 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kere, J., Estivill, X., Chillón, M., Morral, N., Numes, V., Norio, R., Savilahti, E., & de la Chapelle, A. (1994). Cystic fibrosis in a low-incidence population: two major mutations in Finland. Human Genetics, 93(2), 162-166.