title: The molecular basis of cystic fibrosis in South Africa.
abstract: The spectrum of CFTR mutations in three South African populations is presented. To date. a total of 192 white patients (384 chromosomes) with confirmed CF have been tested. deltaF508 accounts for 76% of the CF chromosomes in this group, with 3272-26A-->G, 394delTT and G542X occurring at the following frequencies: 4, 3.6 and 1.3%, respectively. A further 11 mutations account for 6% of CF chromosomes. A total of 91% of the CF-causing mutations can now be detected in the South African white population. Haplotype analysis suggests a founder effect in South Africans of European origin for the two common CFTR mutations, 3272-26A-->G and 394delTT. The diagnosis of CF has been confirmed in 14 coloured and 12 black CF patients. In the coloured population, both the deltaF508 and 3120 + 1G-->A mutations occur at appreciable frequencies of 43 and 29%, respectively. In the black population, the most common CF-causing mutation, the 3120 + 1G-->A mutation, occurs at an estimated frequency of 46%. Four other mutations have been detected, resulting in the identification of a total of 62.5% of mutations in this population.
authors.affiliation: Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand, Johannesburg. andreag@mail.saimr.wits.ac.za
authors.forename: A
authors.initials: A
authors.lastname: Goldman
authors.forename: R
authors.initials: R
authors.lastname: Labrum
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: M
authors.initials: M
authors.lastname: Desgeorges
authors.forename: C
authors.initials: C
authors.lastname: Guittard
authors.forename: A
authors.initials: A
authors.lastname: Wallace
authors.forename: M
authors.initials: M
authors.lastname: Ramsay
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D017720:Molecular Epidemiology; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013019:South Africa
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator