Heteroplasmy of Mitochondrial DNA Shown in Korean and Mongolian.
10.11637/kjpa.2009.22.1.11
- Author:
Keun Cheol KIM
1
;
Ae Jin KIM
;
Ki Jeong KIM
;
Kwang Ho LEE
;
Ae Ja PARK
;
Jae Hyun KIM
;
Dashtseveg TUMEN
;
Maengseok NOH
;
Kyung Yong KIM
Author Information
1. Department of Biology, Division of Life Sciences, College of Natural Sciences, Kangwon National University, Korea.
- Publication Type:Original Article
- Keywords:
Heteroplasmy;
East Asian;
Haplogroup;
Mitochondrial DNA;
Coding region;
Control region
- MeSH:
Clinical Coding;
Coat Protein Complex I;
DNA, Mitochondrial;
Genetics, Population;
Polymerase Chain Reaction;
Wills
- From:Korean Journal of Physical Anthropology
2009;22(1):11-20
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
As characterization of mitochondrial DNA (mtDNA) shows maternal inheritance and exists as more than thousands copies per cell, it is widely used for population genetics and forensic scientific field. However, mitochondrial DNA study has difficulties because heteroplasmy of mtDNA is being reported from coding and control region. In this study, we have analyzed 200 samples to examine heteroplasmy in mitochondrial DNA of Korean and Mongolian. The control region and coding region in mtDNA of blood from Koreans and Mongolians were analyzed with PCR amplication and sequencing. As a result, several heteroplasmy was observed from total 10 positions including 5 positions in coding region and 5 positions in control region, respectively. Moreover, it showed more than one heteroplasmy in coding region from 6 samples in Korean and 17 samples in Mongolian. Interestingly, heteroplasmy at 5178 position was shown in 6 samples among 23 samples. Considering that the position is important for deciding haplogroup D, we suggest that additional analysis on 4883 position needs for correct haplogrouping. Beside, we also found heteroplasmy in the other positions of 204, 4853, or 16249. Therefore, we suggest that it is required of combinatory analysis on several key nucleotide positions to obtain good results when determining mitochondrial haplogroups.
