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.