Korean J Leg Med.  2003 Oct;27(2):56-61.

Analysis of Five Coding Region Polymorphism in Mitochondrial DNA

Affiliations
  • 1Department 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.

Keyword

Coding Region; Polymorphism; PCR; Sequencing; Korean

MeSH Terms

Alleles
Clinical Coding*
DNA
DNA, Mitochondrial*
Polymerase Chain Reaction
Sequence Analysis
DNA
DNA, Mitochondrial
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