Analysis of 40 known cystic fibrosis mutations in South African patients |
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Authors: | Andrea Goldman Trefor Jenkins Michele Ramsay |
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Affiliation: | MRC Human Ecogenetics Research Unit, Department of Human Genetics, School of Pathology, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa |
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Abstract: | A total of 140 South African (SA) Caucasoid cystic fibrosis (CF) families were analysed for the common CF mutation, ΔF508. The 52 non-ΔF508 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 ΔF508 (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. |
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Keywords: | cystic fibrosis mutation South Africa |
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