Korean J Phys Anthropol.  2009 Mar;22(1):11-20.

Heteroplasmy of Mitochondrial DNA Shown in Korean and Mongolian

  • 1Department of Biology, Division of Life Sciences, College of Natural Sciences, Kangwon National University, Korea.
  • 2Department of Science & Culture, Chung-Ang University, Korea. skull@cau.ac.kr
  • 3Department of Microbiology, College of Medicine, Chung-Ang University, Korea.
  • 4Department of Life Science, College of Natural Sciences, Chung-Ang University, Korea.
  • 5Department of Laboratory Medicine, College of Medicine, Chung-Ang University, Korea.
  • 6Department of Archaeology and Art History, College of Humanities, Donga University, Korea.
  • 7Department of Anthropology and Archaeology, School of Social Sciences, National University of Mongolia, Ulaanbaatar, Mongolia.
  • 8Division of Mathematical Science, College of Natural Sciences, Pukyong National University, Korea.
  • 9Department of Anatomy, College of Medicine, Chung-Ang University, Seoul 156-756, Korea.


As characterization of mitochondrial DNA (mtDNA) shows maternal inheritance and exists as more than thousands copies per cell, it is widely used for population genetics and forensic scientific field. However, mitochondrial DNA study has difficulties because heteroplasmy of mtDNA is being reported from coding and control region. In this study, we have analyzed 200 samples to examine heteroplasmy in mitochondrial DNA of Korean and Mongolian. The control region and coding region in mtDNA of blood from Koreans and Mongolians were analyzed with PCR amplication and sequencing. As a result, several heteroplasmy was observed from total 10 positions including 5 positions in coding region and 5 positions in control region, respectively. Moreover, it showed more than one heteroplasmy in coding region from 6 samples in Korean and 17 samples in Mongolian. Interestingly, heteroplasmy at 5178 position was shown in 6 samples among 23 samples. Considering that the position is important for deciding haplogroup D, we suggest that additional analysis on 4883 position needs for correct haplogrouping. Beside, we also found heteroplasmy in the other positions of 204, 4853, or 16249. Therefore, we suggest that it is required of combinatory analysis on several key nucleotide positions to obtain good results when determining mitochondrial haplogroups.


Heteroplasmy; East Asian; Haplogroup; Mitochondrial DNA; Coding region; Control region

MeSH Terms

Clinical Coding
Coat Protein Complex I
DNA, Mitochondrial
Genetics, Population
Polymerase Chain Reaction
Coat Protein Complex I
DNA, Mitochondrial
Full Text Links
  • KJPA
export Copy
  • Twitter
  • Facebook
Similar articles
Copyright © 2022 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr