The major cystic fibrosis mutation in a British population.
We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested prenatal diagnosis in a future pregnancy. The delta F508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and the child was doubly deleted. In only 4 families, 2 of them being consanguineous, did neither parent carry a deleted chromosome. Meconium ileus was associated with children who were delta F508/delta F508, delta F508/non-deleted and non-deleted/non-deleted.
McMahon
C J
CJ
Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
Genet
S A
SA
Middleton-Price
H R
HR
Rutland
P
P
Pembrey
M E
ME
Malcolm
S
S
D003550:Cystic Fibrosis / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D006113:United Kingdom