Mitochondrial DNA variability patterns in Southeast Africa and forensic implications

The first hypervariable region and several restriction fragment polymorphisms in mitochondrial DNA were investigated in 308 individuals belonging to 16 different populations from Southeast Africa, all of them Bantu speaking (see Fig. 1). A total of 30 available African populations (or populations with an important African influence) as well as other non-African ones were used for comparison. Preliminary results are shown in the present work. High diversity values were found for the samples analysed in this work, in comparison with other African samples. Nucleotide mismatch distributions are rugged and multimodal, which could reflect the scenario of stationary populations rather than one of expansion. Phylogenetic reconstruction allowed us to infer that the Southeast African populations are distant from other population groups, with the ancient ones (Pygmies and !Kung) more closely related. The results obtained are of special forensic interest because they produced new mtDNA patterns from human populations completely unknown (from a genetic point of view) until now, and to increment our mtDNA databases for forensic purposes. 2. Nucleotide and sequence diversity Sequence diversity and nucleotide diversity were computed for all the populations analysed and compared with other African ones. Almost all the populations analysed here showed similar values for these indices, the lowest values were in the Makonde population (p=0.0187 and d=6.830) and the highest in the Shona (p=0.0277 and d=10.177), and they were, on average, slightly higher than those found for other African populations. When