Heteroplasmy Pattern Within D-loop Region of Mitochondrial DNA in Koreans.

Korean J Leg Med. 2005 Oct;29(2):189-195. English.

Department of Forensic Medicine, Seoul National University College of Medicine. sdlee@snu.ac.kr

Mitochondrial DNA (mtDNA) sequencing has been validated as a useful tool in forensics. However, there are several aspects that need to be considered in order for it to be used as firm evidence in a courtroom. Heteroplasmy is one of those. Heteroplasmy means the status that different mtDNA populations exist in a single individual, tissue, cell or even mitochondrion. As the underlying phenomenon of heteroplasmy and polymorphism is similar, care must be taken in analyzing the data from the samples with heteroplasmy. Heteroplasmy can reinforce the use of mtDNA however if we know a lot about it. For this much has to be revealed. In this we screened 494 unrelated Korean using DGGE for the D-loop to determine how frequent heteroplasmy is, and the heteroplasmy pattern was confirmed through sequencing. This paper discussed the results of a comparison with other reports along with several aspects of heteroplasmy.

Key Words : MtDNA, D-loop, heteroplasmy, DGGE, Korean