The cystic fibrosis delta F508 mutation in the French population.
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 delta F508 mutation by the polymerase chain reaction. The delta F508/CF mutation ratio (CF: uncharacterised CF mutations) was tested in the CF families with and without meconium ileus. The association between delta F508 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.
Simon-Bouy
B
B
Unité 73, Institut National de la Santé et de la Recherche Médicale, Paris, France.
Mornet
E
E
Serre
J L
JL
Taillandier
A
A
Boué
J
J
Boué
A
A
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D005602:France / Q000453:epidemiology; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction