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Human Genetics

, Volume 85, Issue 4, pp 431–432 | Cite as

The cystic fibrosis ΔF508 mutation in the French population

  • B. Simon-Bouy
  • E. Mornet
  • J. L. Serre
  • A. Tailandier
  • J. Boué
  • A. Boué
Population analysis of the major mutation in cystic fibrosis

Summary

French families (n = 129) with at least one cystic fibrosis (CF) affected child and 44 unrelated subjects from the general population were tested for the presence of the ΔF508 mutation by the polymerase chain reaction. The ΔF508/CF mutation ratio (CF: uncharacterised CF mutations) was tested in the CF families with and without meconium ileus. The association between ΔF508 and CF mutations and restriction fragment length polymorphism haplotypes (XV2c and KM19) has been estimated; these data suggest that the CF chromosomes include a panel of independent and probably different mutations.

Keywords

Cystic Fibrosis AF508 Mutation Meconium Ileus Restriction Fragment Length Poly Cystic Fibrosis 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.

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • B. Simon-Bouy
    • 1
  • E. Mornet
    • 1
  • J. L. Serre
    • 2
  • A. Tailandier
    • 1
  • J. Boué
    • 1
  • A. Boué
    • 1
  1. 1.Unité 73Institut National de la Santé et de la Recherche MédicaleParisFrance
  2. 2.Unité 155Institut National de la Santé et de la Recherche MédicaleParisFrance

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