Premium
Analysis of 40 known cystic fibrosis mutations in South African patients
Author(s) -
Goldman Andrea,
Jenkins Trefor,
Ramsay Michele
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04405.x
Subject(s) - cystic fibrosis , mutation , genetics , δf508 , prenatal diagnosis , biology , sweat test , mutation testing , medicine , cystic fibrosis transmembrane conductance regulator , gene , pregnancy , fetus
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.