title: Analysis of 40 known cystic fibrosis mutations in South African patients.
abstract: A total of 140 South African (SA) Caucasoid cystic fibrosis (CF) families were analysed for the common CF mutation, delta F508. The 52 non-delta F508 CF chromosomes in a subset of 127 of these families were also tested for 39 other known CF mutations. The most frequent mutation, apart from delta F508 (which occurs at a frequency of 79%), was G542X (1.3%). Four other mutations, R553X, S549N, 621 + 1G-->T and N1303K, were each found in single families. The other 35 mutations remained unidentified in this sample of CF families. Since 83% of SA Caucasoid CF mutations have been identified, diagnosis by mutation analysis will be possible in only 69% of CF cases. When a diagnosis has been confirmed by a positive sweat test, a combination of linked marker analysis and mutation detection will be necessary if prenatal diagnosis and carrier detection are to be offered in the remaining families.
authors.affiliation: Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
authors.forename: A
authors.initials: A
authors.lastname: Goldman
authors.forename: T
authors.initials: T
authors.lastname: Jenkins
authors.forename: M
authors.initials: M
authors.lastname: Ramsay
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006801:Humans; D017720:Molecular Epidemiology; D009154:Mutation; D013019:South Africa