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Human Genetics

, Volume 85, Issue 4, pp 413–415 | Cite as

Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate

  • Juha Kere
  • Erkki Savilahti
  • Reijo Norio
  • Xavier Estivill
  • Albert de la Chapelle
Population analysis of the major mutation in cystic fibrosis

Summary

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.

Keywords

Cystic Fibrosis Cystic Fibrosis Patient Pancreatic Insufficiency Restriction Fragment Length Polymorphism Marker AF508 Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Juha Kere
    • 1
    • 3
  • Erkki Savilahti
    • 2
  • Reijo Norio
    • 3
  • Xavier Estivill
    • 4
  • Albert de la Chapelle
    • 1
  1. 1.Department of Medical GeneticsUniversity of HelsinkiHelsinkiFinland
  2. 2.Children's Hospital, University of HelsinkiHelsinkiFinland
  3. 3.Department of Medical GeneticsThe Finnish Population and Family Welfare FederationHelsinkiFinland
  4. 4.Molecular Genetics Unit, Hospital de la Santa Creu i Sant PauBarcelonaSpain

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