The molecular basis of cystic fibrosis in South Africa

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. ΔF508 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 ΔF508 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.