Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub-Saharan Africa.

The CTG trinucleotide repeat, in the myotonic dystrophy (DM) myotonin protein kinase gene, was studied by PCR analysis in a total of 246 unrelated South African Bantu-speaking Negroids, 116 San and 27 Pygmies. The size and distribution of the CTG repeat were determined and showed that the alleles ranged in length from 5 to 22 repeats. The most common CTG repeat is 5 (25% of chromosomes) in the South African Negroids but 11 (27% of chromosomes) in the San population and 12 (22% of chromosomes) in the Pygmies. The southern African Bantu-speaking Negroids and San were found to have significantly fewer large repeat length alleles than do Caucasoid and Japanese populations. Since DM has not been observed in southern African Negroids, it is possible that the occurrence of fewer large CTG repeats in the normal range may, in part, explain this absence. It seems likely, that the rare DM mutation event postulated to have occurred on a specific chromosomal haplotype, occurred after the migration of humans from Africa.