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Int J Legal Med. 2005 Jan;119(1):50-3. Epub 2004 Sep 17.

Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy.

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Department of Forensic Medicine and Brain Korea 21 Project for Medical Science, College of Medicine Yonsei University, 134 Shinchon-Dong Seodaemun-Gu, 120-752 Seoul, Korea.


The mitochondrial DNA HV3 region contains CA dinucleotide repeats which display length polymorphism. To analyze this for forensic purposes, we designed a fluorescence-labelled PCR primer set for short amplification products and carried out genotyping by using capillary electrophoresis. A total of 4 alleles with 4-7 repeat units were observed and the genetic diversity was estimated to be 0.5120 in 500 unrelated Koreans. Interestingly, three individuals showed two or three length variants, i.e. length heteroplasmy.

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