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Vol 44(2010) N 3 p. 386-392;
I.V. Kornienko1,2*, D.I. Vodolazhsky3

Patterns of Single Nucleotide Polymorphism Distribution in Hypervariable Regions of the D-Loop of Human Mitochondrial DNA

1State Center 16 of Forensic Medicine and Crime Laboratory Investigations, North-Caucasian Military District, Rostov-on-Don, 344010 Russia
2Southern Federal University, Rostov-on-Don, 344090 Russia
3Southern Scientific Centre, Russian Academy of Sciences, Rostov-on-Don, 344006 Russia

*ikornienko@ya.ru
Received - 2009-08-10; Accepted - 2009-11-26

The D-loop 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 and 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.

mtDNA, D-loop, SNP, TAS, ETAS, CSB



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