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2003 Fiscal Year Final Research Report Summary

Development of new Japanese-specific DNA markers (SNP) and application to individualization

Research Project

Project/Area Number 13670423
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Legal medicine
Research InstitutionTottori University

Principal Investigator

YUASA Isao  Tottori University, Faculty of Medicine, Associate Professor, 医学部, 助教授 (00093633)

Co-Investigator(Kenkyū-buntansha) AGO Kazutoshi  Kagoshima University, Faculty of Medicine, Assistant Professor, 医学部, 講師 (20102056)
UMEMATSU Kazuo  Yamagata University, Faculty of Medicine, Associate Professor, 医学部, 助教授 (10091828)
IRIZAWA Yoshito  Tottori University, Faculty of Medicine, Professor, 医学部, 教授 (90112226)
Project Period (FY) 2001 – 2003
KeywordsJapanese / DNA polymorphism / SNP / Individualization / nucleotide sequence / mtDNA / Y chromosome
Research Abstract

To make it possible to identify the ethnic origin of cadavers and forensic materials, we have investigated mtDNA and Y chromosome haplogroups in DNA samples from 700-2000 Japanese, Koreans, Chinese Hans, Mongolians and Germans. When more than 20 SNPs in the coding regions of mtDNA were typed simultaneously by APLP method, haplogroup B2 in mtDNA was found in only Japanese and Koreans. However, its frequency was markedly higher in Japanese than in Koreans. Typing of 29 binary polymorphisms in Y chromosome by RFLP permitted us to classify 867 samples from various populations into 24 haplogroups. Though the heterozygosity values were similar, the distribution of haplogroups and the mean number of pairwise differences among haplogroups were very different. A C-to-T transition found in the SRY gene was unique and observed only in Japanese and Koreans. Haplogroups 4 and 5 of YAP lineage and haplogroup 8 of RPS4Y lineage were identified in Japanese at higher frequencies than in Koreans. When these mtDNA and Y chromosome haplogroups are observed, it is strongly suggested that the cadavers and forensic materials are originated from Japanese.

  • Research Products

    (14 results)

All Other

All Publications (14 results)

  • [Publications] E.Naito, K.Umetsu, I.Yuasa, K.Dewa, H.Sumi, H.Yamanouchi: "A novel dimorphism in the human SRY gene : usefulness in human migration study."International Journal of Legal Medicine (4/5), 2001. 114. 274-277 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] I.Yuasa, H.Nakamura, L.Henke, J.Henke, M.Nakagawa, Y.ら: "Characterization of genomic rearrangement of the α_1-acid glycoprotein/orosomucoid gene in Ghanaians."Journal of Human Genetics. 46. 572-578 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] K.Umetsu, M.Tanaka, I.Yuasa, N.Saitou ら: "Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations."Electrophoresis. 22. 3533-3538 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] H.Oota, T.Kitano, F.Jin, I.Yuasa, L.Wang, S.Ueda, N.Saitou, M.ら: "Extreme mtDNA homogeneity in continental Asian populations."American Journal of Physical Anthropology. 118. 146-153 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] I.Yuasa, K.Umetsu, S.Tsuchida, Y.Irizawa, L.Henke, J.Henke: "The human esterase D Gene : molecular basis of ESD*5 and ESD*7 and haplotype analysis with new polymorphisms in introns."Human Biology. 76(in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] E.Naito, K.Umetsu, I.Yuasa, K.Dewa, H.Sumi, H.Yamanouchi: "A novel dimorphism in the human SRY gene : usefulness in human migration study."International Journal of Legal Medicine. 114(4/5). 274-277 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, H.Nakamura, L.Henke, J.Henke, M.Nakagawa, Y.Irizawa, K.Umetsu: "Characterization of genomic rearrangement of the α_1-acid glycoprotein/orosomucoid gene in Ghanaians."Journal of Human Genetics. 46(10). 572-578 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Umetsu, M.Tanaka, I.Yuasa, N.Saitou, T.Takayasu, N.Fuku, E.Naito, K.Ago, N.Nakayashiki, A.Miyoshi, S.Kashimura, G.Watanabe, M.Osawa: "Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations."Electrophoresis. 22(16). 3533-3538 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, K.Umetsu, K.Ago, K.Iijima, M.Nakagawa, Y.Irizawa: "Molecular characterization of four alpha-1-antitrypsin variant alleles found in a Japanese population : a mutation hot spot at the codon for amino acid 362."Legal Medicine. 3(4). 213-219 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] H.Oots, T.Kitano, F.Jin, I.Yuasa, L.Wang, S.Ueda, N.Saitou, M.Stoneking: "Extreme mtDNA homogeneity in continental Asian populations."American Journal of Physical Anthropology. 118(2). 146-153 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, K.Umetsu, S.Tsuchida, H.Nakamura, M.Endoh, M.Nakagawa, Y.Irizawa: "Molecular analysis of the human esterase D gene ESD*Q0_<yonago> responsible for incompatibility in a Japanese paternity case."Forensic Science International. 126(3). 245-251 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] M.Nakagawa, I.Yuasa, Y.Irizawa, K.Umetsu: "The human complement component C1r gene : the exon-intron structure and the molecular basis of allelic diversity."Annals of Human Genetics. 67(3). 207-215 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] E.Naito, K.Dewa, M.Fukuda, H.Sumi, Y.Wakabayashi, K.Umetsu, I.Yuasa, H.Yamanouchi: "Novel paternity testing by distinguishing parental alleles at a VNTR locus in the differentially methylated region upstream of the human H19 gene."Journal of Forensic Sciences. 48(6). 1275-1279 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, K.Umetsu, S.Tsuchida, Y.Irizawa, L.Henke, J.Henke: "The human esterase D gene : molecular basis of ESD*5 and ESD*7 and haplotype analysis with new polymorphisms In introns."Human Biology. 76(in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2005-04-19  

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