title: The major cystic fibrosis mutation in a British population.
abstract: 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.
authors: Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
authors: C J
authors: CJ
authors: McMahon
authors: S A
authors: SA
authors: Genet
authors: H R
authors: HR
authors: Middleton-Price
authors: P
authors: P
authors: Rutland
authors: M E
authors: ME
authors: Pembrey
authors: S
authors: S
authors: Malcolm
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D006113:United Kingdom