Human Genetics

, Volume 85, Issue 4, pp 419–420 | Cite as

The haplotype distribution of the ΔF508 mutation in cystic fibrosis families in Scotland

  • Iain McIntosh
  • Ann Curtis
  • Maria-Luz Lorenzo
  • Marion Keston
  • Annette J. Gilfillan
  • Gillian Morris
  • David J. H. Brock
Population analysis of the major mutation in cystic fibrosis
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Summary

The gene defective in cystic fibrosis (CF) has recently been isolated and the major mutation identified. The haplotype distribution of this mutation (ΔF508) has been determined for 215 CF chromosomes in the Scottish population. ΔF508 represents 73% of all CF mutations in this group. There remains considerable linkage disequilibrium between XV2c and KM19 and other mutations in the CF gene.

Keywords

Cystic Fibrosis Cystic Fibrosis Patient Haplotype Distribution AF508 Mutation Cystic Fibrosis Gene 

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Iain McIntosh
    • 1
  • Ann Curtis
    • 1
  • Maria-Luz Lorenzo
    • 1
  • Marion Keston
    • 1
  • Annette J. Gilfillan
    • 1
  • Gillian Morris
    • 2
  • David J. H. Brock
    • 1
  1. 1.Human Genetics Unit, University of EdinburghWestern General HospitalEdinburghUK
  2. 2.Duncan Guthrie Institute of Medical GeneticsYorkhillUK

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