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J Korean Med Sci. 2017 Apr;32(4):587-592. doi: 10.3346/jkms.2017.32.4.587.

Entire Mitochondrial DNA Sequencing on Massively Parallel Sequencing for the Korean Population.

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Medical Examiner's Office, National Forensic Service, Wonju, Korea.
Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Korea.
Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.
Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.


Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal lineage. The traditional mtDNA analysis is focused on the control region, but the introduction of massive parallel sequencing (MPS) has made the typing of the entire mtDNA genome (mtGenome) more accessible for routine analysis. The complete mtDNA information can provide large amounts of novel genetic data for diverse populations as well as improved discrimination power for identification. The genetic diversity of the mtDNA sequence in different ethnic populations has been revealed through MPS analysis, but the Korean population not only has limited MPS data for the entire mtGenome, the existing data is mainly focused on the control region. In this study, the complete mtGenome data for 186 Koreans, obtained using Ion Torrent Personal Genome Machine (PGM) technology and retrieved from rather common mtDNA haplogroups based on the control region sequence, are described. The results showed that 24 haplogroups, determined with hypervariable regions only, branched into 47 subhaplogroups, and point heteroplasmy was more frequent in the coding regions. In addition, sequence variations in the coding regions observed in this study were compared with those presented in other reports on different populations, and there were similar features observed in the sequence variants for the predominant haplogroups among East Asian populations, such as Haplogroup D and macrohaplogroups M9, G, and D. This study is expected to be the trigger for the development of Korean specific mtGenome data followed by numerous future studies.


Heteroplasmy; Ion Torrent PGM; Korean; Massive Parallel Sequencing; Mitochondrial DNA; mtDNA Haplogroup

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