Cystic fibrosis mutation ΔF508 in Finland

other mutations predominate

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

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

The frequency of mutation ΔF508 was determined in all 20 Finnish cystic fibrosis (CF) families with living affected children (19 with pancreatic insufficiency). ΔF508 was detected in 18 out of 40 CF chromosomes (45%). At least two different mutations associated with pancreatic insufficiently have occurred in a rare haplotype defined by XV2c, CS.7, KM19 alleles 1 2 2. Geographical clustering of ΔF508 and other mutations suggested that a founder effect and genetic drift have influenced the frequency of mutations causing CF in Finland.

Original languageEnglish
Pages (from-to)413-415
Number of pages3
JournalHuman Genetics
Volume85
Issue number4
DOIs
Publication statusPublished - Sep 1990
Externally publishedYes

Fingerprint

Finland
Cystic Fibrosis
Mutation Rate
Mutation
Founder Effect
Exocrine Pancreatic Insufficiency
Genetic Drift
Haplotypes
Cluster Analysis
Chromosomes
Alleles

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Cystic fibrosis mutation ΔF508 in Finland : other mutations predominate. / Kere, Juha; Savilahti, Erkki; Norio, Reijo; Estivill, Xavier P.; de la Chapelle, Albert.

In: Human Genetics, Vol. 85, No. 4, 09.1990, p. 413-415.

Research output: Contribution to journalArticle

Kere, J, Savilahti, E, Norio, R, Estivill, XP & de la Chapelle, A 1990, 'Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate', Human Genetics, vol. 85, no. 4, pp. 413-415. https://doi.org/10.1007/BF02428286
Kere, Juha ; Savilahti, Erkki ; Norio, Reijo ; Estivill, Xavier P. ; de la Chapelle, Albert. / Cystic fibrosis mutation ΔF508 in Finland : other mutations predominate. In: Human Genetics. 1990 ; Vol. 85, No. 4. pp. 413-415.
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