Korean J Phys Anthropol.
2009 Mar;22(1):21-29.
Comparison of SNP Occurred in Coding Regions of Mitochondrial DNA Analyzed from Korean and Mongolian
- Affiliations
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- 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 Archaeology and Art History, College of Humanities, Donga University, Korea.
- 5Division of Mathematical Science, College of Natural Sciences, Pukyong National University, Korea.
- 6Department of Laboratory Medicine, College of Medicine, Chung-Ang University, Korea.
- 7Department of Anthropology and Archaeology, School of Social Sciences, National University of Mongolia, Ulaanbaatar, Mongolia.
- 8Department of Life Science, College of Natural Sciences, Chung-Ang University, Korea.
- 9Department of Anatomy, College of Medicine, Chung-Ang University, Seoul 156-756, Korea.
Abstract
- Even though mitochondrial DNA analysis is performed in the field of molecular genetics, differences of the results exist regarding which nucleotide positions are analyzed. In this study, we strategically analyzed to find ethnic specific SNP of coding regions of mitochondrial DNA of Korean and Mongolian. Mitochondrial DNA was analyzed with PCR amplification and sequencing with 112 blood samples of Korean and 92 blood samples of Mongolian. As a result, the mutation which commonly appears both in Korean and Mongolian population is 17 nucleotide positions, and the one that shown in the only Korean is 13 nucleotide positions, the one that shown in the only Mongolian 26 nucleotide positions. However, it was thought as individual variation as most mutations are shown in a sample. Among them, it appears as 9% substitution rate in 10397, 4850 nucleotide position of Korean, whereas 12.3% or 15% substitution rate in 5108, 9950 nucleotide positions of Mongolian, respectively. Beside, we observed high level of heteroplasmy in 3546, 3553 nucleotide positions. Therefore, we suggest that these regions might be novel genetic markers for dividing mitochondrial haplogroup of Korean and Mongolian population, but additional analysis needs on several nucleotide positions in huge samples as analyzing on restricted nucleotide positions using restricted DNA samples.
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