Analysis of Five Coding Region Polymorphism in Mitochondrial DNA.

Zhang, Yong Ji; Park, Jin Cheol; Zheng, Zhe Jia; Lin, Hai Yu; Kim, So Young; Choi, Young Tae; Lee, Jung Bin

Original article

Korean Journal of Legal Medicine 2003;27(2):56-61.
Published online October 31, 2003.

Analysis of Five Coding Region Polymorphism in Mitochondrial DNA.

Yong Ji Zhang, Jin Cheol Park, Zhe Jia Zheng, Hai Yu Lin, So Young Kim, Young Tae Choi, Jung Bin Lee

Department of Forensic Medicine, Seoul National University, College of Medicine, Korea.

Abstract

For evaluation of the five coding region (CR) polymorphism in mitochondrial DNA (mtDNA); we had performed PCR and direct sequencing in 599 unrelated Korean who showed the identical DNA type in D-loop mitochondrial DNA analysis for total 2,810 bp fragment. Following the sequence analysis, all the sequences of five regions were compared respectively to Anderson standard sequence to investigate the nucleotide variations. The result showed, a total 4,565 nucleotide variations were observed at 190 positions in five CR as 3,931 (86.11%) substitutions, 32 (0.7%) insertions, and 602 (13.19%) deletions and the allele diversities (h) were higher than 0.9992 when adding each CR or combined CR to D-loop analysis in mtDNA. In conclusion, we could confirm the five CR are useful for forensic testing through the nucleotide variation and hapolotypes polymorphism.

Key Words: Coding Region, Polymorphism, PCR, Sequencing, Korean