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

摘要

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.