Korean J Leg Med.
2004 Oct;28(2):6-13.
Intra-individual Difference of Length Heteroplasmy in Blood and Hair Shaft Mitochondrial DNA
- Affiliations
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- 1Department of Forensic Medicine, College of Medicine, Yonsei University, Korea.
- 2Brain Korea 21 Project for Medical Science, Yonsei University, Korea. kjshin@ yumc.yonsei.ac.kr
- 3Human Identification Research Institute, Yonsei University, Korea.
- 4Department of Forensic Medicine, National Institute of Scientific Investigation, Korea.
Abstract
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To observe mtDNA length heteroplasmy in a homoploymeric cytosine tract of the mitochondrial HV2 region, we carried out size-based separation of PCR products, which was produced by using primers designed to minimize the stutter production. Blood and hair shaft samples were collected from 25 individuals. The result showed significant qualitative/quantitative peak pattern variations among blood and hair shaft mtDNA profiles. Based on the results of this study, an exclusion depended solely on differences in length of the major C-tract variant could thus be an erroneous interpretation. Therefore, differences in the number of cytosine or qualitative/quantitative peak pattern variations in the C-tract of the mtDNA HV2 region cannot be used alone to support an interpretation of exclusion.