Short Communication

International Journal of Legal Medicine

, Volume 119, Issue 1, pp 50-53

First online:

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

  • Ukhee ChungAffiliated withDepartment of Forensic Medicine and Brain Korea 21 Project for Medical Science, College of Medicine Yonsei UniversityBiometrics Engineering Research Center, Yonsei University
  • , Hwan Young LeeAffiliated withDepartment of Forensic Medicine and Brain Korea 21 Project for Medical Science, College of Medicine Yonsei University
  • , Ji-Eun YooAffiliated withDepartment of Forensic Medicine and Brain Korea 21 Project for Medical Science, College of Medicine Yonsei University
  • , Myung Jin ParkAffiliated withDepartment of Forensic Medicine and Brain Korea 21 Project for Medical Science, College of Medicine Yonsei University
  • , Kyoung-Jin ShinAffiliated withDepartment of Forensic Medicine and Brain Korea 21 Project for Medical Science, College of Medicine Yonsei UniversityBiometrics Engineering Research Center, Yonsei UniversityHuman Identification Research Institute, Yonsei University Email author 

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Abstract

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.

Keywords

Mitochondrial DNA CA dinucleotide repeats Length polymorphism Length heteroplasmy Koreans