International Journal of Legal Medicine

, Volume 117, Issue 4, pp 218–225

Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population

  • Sayaka Maruyama
  • Kiyoshi Minaguchi
  • Naruya Saitou
Original Article

DOI: 10.1007/s00414-003-0379-2

Cite this article as:
Maruyama, S., Minaguchi, K. & Saitou, N. Int J Legal Med (2003) 117: 218. doi:10.1007/s00414-003-0379-2


Sequence polymorphisms of the hypervariable mitochondrial DNA (mtDNA) regions HVI and HVII, and coding region polymorphisms were investigated in 211 unrelated individuals from the Japanese population. Sequence comparison of the HVI and HVII regions led to the identification of 169 mitochondrial haplotypes defined by 147 variable positions. Among them 145 types were observed in only 1 individual; the other 24 types were shared by 2 or more individuals. The gene diversity was estimated at 0.9961, and the probability of two randomly selected individuals from the population having identical mtDNA types was 0.86%. We also established phylogenetic haplogroups in the Japanese population based on the coding and control region polymorphisms and compared the haplotypes with those in other Japanese, Korean and Chinese populations. As a result, three new subhaplogroups, G4a, G4b, and N9b, and several haplotypes specific for the Japanese and Korean populations were identified. The present database can be used not only for personal identification but also as an aid for geographic or phenotype (race) estimation in forensic casework in Japan.


Mitochondrial DNA Polymorphism Hypervariable regions Coding region Phylogeny 

Supplementary material

Table S1 Variable nucleotide positions of the HVI and HVII regions and the coding region variations in 211 Japanese samples compared to the Anderson sequence

table_s1.xls (426 kb)
(Excel 431 KB)

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Sayaka Maruyama
    • 1
  • Kiyoshi Minaguchi
    • 1
  • Naruya Saitou
    • 2
  1. 1.Department of Forensic OdontologyTokyo Dental CollegeChiba CityJapan
  2. 2.Laboratory of Evolutionary GeneticsNational Institute of GeneticsShizuoka-kenJapan

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