International Journal of Legal Medicine

, Volume 118, Issue 3, pp 125–131 | Cite as

Mutations in 14 Y-STR loci among Japanese father-son haplotypes

  • Rina Kurihara
  • Toshimichi Yamamoto
  • Rieko Uchihi
  • Shi-Lin Li
  • Takashi Yoshimoto
  • Hiroyuki Ohtaki
  • Kiyofumi Kamiyama
  • Yoshinao Katsumata
Original Article


In the present study 161 Japanese father/son haplotype transfers in 147 pedigrees were analyzed at 14 Y-STRs with two multiplex PCR-based typing systems. Five isolated single repeat mutations were identified at the DYS389I, DYS439, Y-GATA-H4, DYS389II and DYS391 loci, and a pedigree showing triple alleles at the DYS385 locus (a duplicate locus) without allelic discrepancy between the father and son was also observed. The overall mutation rate estimated across the 14 Y-STRs in the Japanese population was 0.22%/locus/meiosis (95% C.I. 0.09–0.51%). This rate was not significantly different (p>0.05) from those of autosomal STRs and Y-STRs in other populations, including German, Austrian, Polish and Norwegian populations. Furthermore, 138 haplotypes were identified in 147 pedigrees with a haplotype diversity value of 0.9983. Therefore, a combination of the two systems should permit effective analysis with sufficient discriminatory power.


Y-STRs Mutation Y-haplotypes Japanese population 



This work was supported in part by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan.


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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Rina Kurihara
    • 1
  • Toshimichi Yamamoto
    • 1
  • Rieko Uchihi
    • 1
  • Shi-Lin Li
    • 1
  • Takashi Yoshimoto
    • 1
  • Hiroyuki Ohtaki
    • 1
  • Kiyofumi Kamiyama
    • 2
  • Yoshinao Katsumata
    • 1
  1. 1.Department of Legal Medicine and BioethicsGraduate School of Medicine Nagoya UniversityNagoyaJapan
  2. 2.DNA-Fingerprint DivisionTSL Inc.Hamura Tokyo Japan

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