Patterns of single nucleotide polymorphism distribution in hypervariable regions of the D-loop of human mitochondrial DNA |
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Authors: | I V Kornienko D I Vodolazhsky |
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Institution: | 1. Southern Federal University, Rostov-on-Don, 344090, Russia 2. State Center 16 of Forensic Medicine and Crime Laboratory Investigations, North-Caucasian Military District, Rostov-on-Don, 344010, Russia 3. Southern Scientific Centre, Russian Academy of Sciences, Rostovon-Don, 344006, Russia
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Abstract: | The D4oop of mtDNA is a noncoding locus actively used as an individualizing marker in molecular genetic research. Uneven distribution of SNPs in the D-loop suggests that the functional load within this region is irregular. The nucleotide sequence analysis was used to evaluate the structural and functional role of various D-loop sites of a single individual’s mtDNA an d their importance in terms of phylogenetic conservatism. The role of duplication of various D-loop elements (TAS, ETAS, CSB elements) in increasing the reliability of the mtDNA replication initiation and termination is discussed. |
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