Patterns of single nucleotide polymorphism distribution in hypervariable regions of the D-loop of human mitochondrial DNA

被引：0
|
作者：
I. V. Kornienko
D. I. Vodolazhsky
机构：
[1] Southern Federal University,State Center 16 of Forensic Medicine and Crime Laboratory Investigations
[2] North-Caucasian Military District,Southern Scientific Centre
[3] Russian Academy of Sciences,undefined
来源：
Molecular Biology | 2010年 / 44卷
关键词：
mtDNA; D-loop; SNP; TAS; ETAS; CSB;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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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页码：386 / 392
页数：6
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