International Journal of Human Diversity and Evolution
Coverage: 1923-1941 (Vols. I-XIX) & 1962-2023 (Vols. 1-61)
ISSN 0323-1119 (Print)
ISSN 2570-9127 (Online)
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'Frigi S, Ennafaa H, Cherni L, Ammar El Gaaied AB, 2009: Investigation of polymorphisms in hypervariable region II (HVII) sequences of human mitochondrial DNA in two North-African populations. Anthropologie (Brno) 47, 1-2: 107-118'.
MtDNA analysis has been focused mainly on the first hypervariable region (HVI). This paper deals with polymorphisms in the HVII of two Tunisian populations (Sejnane and Takrouna). Particular attention was paid to nucleotide site 73 which is particularly informative when studying European populations as well as polymorphisms in a mononucleotide repeat poly-C stretch between position 303 and 315 nucleotides (D310) which has been identified recently as a frequent hotspot of deletion/insertion mutations in tumors. Our results demonstrate that site 73 plays a central role in distinguishing between haplogroups. We show that the subset of sequences carrying adenine at site 73 belongs to haplogroups H and V and has a much more recent common mitochondrial DNA ancestor than the subset of sequences with guanine at that site. The polymorphism of the 303-315 mitochondrial microsatellite in the two communities shows that this mitochondrial C-stretch is a frequent hot spot of mononucleotide insertions. The results showed that the two haplotypes 309.1 315.1 and 309-315.1 are the most frequent in all studied populations. Our results also confirm the high diversity of the population of Sejnane compared with Takrouna and other populations.
Mitochondrial DNA - Polymorphism - HVII - Site 73 - Microsatellite 303-315 - Tunisian Berbers

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