Sequence diversity of Mitochondrial DNA HV1 in Korean population

한국인 집단의 미토콘드리아 DNA HV1 부위에서의 염기서열 다양성

  • Lim, Si-Keun (DNA Analysis Division, National Institute of Scientific Investigation) ;
  • Kim, Eung-Su (DNA Analysis Division, National Institute of Scientific Investigation) ;
  • Kim, Soon-Hee (DNA Analysis Division, National Institute of Scientific Investigation) ;
  • Park, Ki-Won (DNA Analysis Division, National Institute of Scientific Investigation) ;
  • Han, Myun-Soo (DNA Analysis Division, National Institute of Scientific Investigation)
  • 임시근 (국립과학수사연구소 유전자분석과) ;
  • 김응수 (국립과학수사연구소 유전자분석과) ;
  • 김순희 (국립과학수사연구소 유전자분석과) ;
  • 박기원 (국립과학수사연구소 유전자분석과) ;
  • 한면수 (국립과학수사연구소 유전자분석과)
  • Received : 2005.06.21
  • Accepted : 2005.07.12
  • Published : 2005.08.25


The human mitochondrial genome (mtDNA) has been an important tool in the field of forensic investigations. Within the entire mtDNA molecule, the non-coding control region which is approximately 1,100 bp including hypervariable region I and II (HV1 and HV2) is widely studied because it is highly polymorphic and useful for human identification purposes. In this study, 360 unrelated Koreans were analyzed in HV1. The number of polymorphic sites and genetic lineage were 124 and 210, respectively. The most prevalent substitution was C-T and 75.8% of DNA showed C-T substitution at 16223. There were 20 kinds of polymorphism between 16180 and 16193 including insertion and deletion. The most frequent haplotype was [16223T, 16362C] representing 5%. Approximately 25.9% of DNA showed the same haplotype in at least two samples. The gene diversity was calculated to 0.996 and the probability of two unrelated perosons having the same haplotype was determined to 0.7%.


mtDNA;control region;HV1;sequence diversity;haplotype


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