Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate

  title={Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate},
  author={J. Kere and E. Savilahti and R. Norio and X. Estivill and A. Chapelle},
  journal={Human Genetics},
  • J. Kere, E. Savilahti, +2 authors A. Chapelle
  • Published 2006
  • Biology
  • Human Genetics
  • SummaryThe 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… CONTINUE READING
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