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Updated: Aug 21, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Comparative analysis of the hypervariable segment 1 mutational spectra in human mitochondrial DNA phylogeographic
Abstract:
Variability of the mtDNA hypervariable segment 1 (HVS 1) nucleotide sequences belonging to 88 phylogeographic clusters characteristic for human populations of Africa, West and East Eurasia was analyzed. Statistically significant differences between distribution of mutations in mitochondrial gene pools of the human continental groups were revealed. The list of the HVS 1 nucleotide positions characterizing by instability explained by the model of mtDNA strands dislocation during the replication process is suggested. It was shown that DNA strands dislocation during mtDNA replication is one of the key mechanisms of the context-dependent mtDNA mutagenesis during the regional differentiation of human populations.
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