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

Int J Legal Med. 2005 Jan;119(1):50-3. doi: 10.1007/s00414-004-0487-7. Epub 2004 Sep 17.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian Continental Ancestry Group / genetics*
  • Complementarity Determining Regions
  • DNA Fingerprinting / methods*
  • DNA Primers
  • DNA, Mitochondrial / genetics*
  • Dinucleotide Repeats*
  • Gene Frequency
  • Genetic Variation
  • Genetics, Population*
  • Genotype
  • Humans
  • Korea
  • Polymerase Chain Reaction / methods
  • Sequence Analysis, DNA


  • Complementarity Determining Regions
  • DNA Primers
  • DNA, Mitochondrial