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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 587 - 592 (6page)
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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.
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참고문헌 (30)
참고문헌 신청
Seo Y / 2000 / Identification of remains by sequencing of mitochondrial DNA control region / Am J Forensic Med Pathol 21:138~143
Coble MD / 2009 / Mystery solved: the identification of the two missing Romanov children using DNA analysis / PLoS One 4:e4838
Parsons TJ / 1997 / A high observed substitution rate in the human mitochondrial DNA control region / Nat Genet 15:363~368
Budowle B / 2003 / Forensics and mitochondrial DNA: applications, debates, and foundations / Annu Rev Genomics Hum Genet 4:119~141
Parsons TJ / 2001 / Increasing the forensic discrimination of mitochondrial DNA testing through analysis of the entire mitochondrial DNA genome / Croat Med J 42:304~309
Coble MD / 2009 / Mystery solved: the identification of the two missing Romanov children using DNA analysis / PLoS One 4:e4838
Parsons TJ / 1997 / A high observed substitution rate in the human mitochondrial DNA control region / Nat Genet 15:363~368
Budowle B / 2003 / Forensics and mitochondrial DNA: applications, debates, and foundations / Annu Rev Genomics Hum Genet 4:119~141
Parsons TJ / 2001 / Increasing the forensic discrimination of mitochondrial DNA testing through analysis of the entire mitochondrial DNA genome / Croat Med J 42:304~309
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