IDENTICAL INTRAGENIC MICROSATELLITE HAPLOTYPE FOUND IN CYSTIC-FIBROSIS CHROMOSOMES BEARING MUTATION G551D IN IRISH, ENGLISH, SCOTTISH, BRETON AND CZECH PATIENTS
Sm. Cashman et al., IDENTICAL INTRAGENIC MICROSATELLITE HAPLOTYPE FOUND IN CYSTIC-FIBROSIS CHROMOSOMES BEARING MUTATION G551D IN IRISH, ENGLISH, SCOTTISH, BRETON AND CZECH PATIENTS, Human heredity, 45(1), 1995, pp. 6-12
Mutation G551D of exon 11 of the cystic fibrosis transmembrane conduct
ance regulator gene is one of the most common mutations in patients of
European origin. In order to test the hypothesis that the mutation is
identical by descent in these patients, we have studied haplotypes fo
r the three intragenic microsatellite markers IVS8CA, IVS17bTA and IVS
17bCA from 92 patients bearing this mutation, who had been referred to
laboratories in Ireland, Scotland, England, France (Brittany) and the
Czech Republic, In all cases we found that only haplotype 16-7-17 is
associated with mutation G551D. Our results support the hypothesis of
identity by descent of all cystic fibrosis fibrosis sis chromosomes be
aring mutation G551D in these patient Microsatellites populations, and
suggest that given the combined mutation rate of the microsatellite m
arkers, there is a low probability (p < 0.05) that the haplotype where
mutation G551D first occurred remained unaltered for more than 170 ge
nerations.