The frequency of the delta F508 mutation in the cystic fibrosis genes of 71 unrelated South African cystic fibrosis patients

Herbert J.S. ; Retief A.E. (1992)


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The common ΔF508 mutation is present in approximately 70% of mutant cystic fibrosis (CF) genes of European and North American populations. The frequency of the ΔF508 mutation has been established for two groups of South African CF subjects. The mutation was found to be present in 82% and 53% of CF genes of white and coloured (i.e. of mixed ancestry) subjects respectively. These findings assist in providing appropriate counselling to individuals who have a family history of CF and in defining laboratory strategies for the establishment of an efficient genetic service for cystic fibrosis.

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