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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
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2003: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 2002: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2001: ¥1,800,000 (Direct Cost: ¥1,800,000)
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.

Report

(4 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • 2001 Annual Research Report
  • Research Products

    (31 results)

All Other

All Publications (31 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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [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
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Nakagawa M, Yuasa I, Irizawa Y, Umetsu K: "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)

    • Related Report
      2003 Annual Research Report
  • [Publications] Ono H, Sakura N, Yamashita K, Yuasa I, Ohno K: "Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia."Brain and Development. 27(7). 525-528 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Naito E, Dewa K, Fukuda M, Sumi H, Wakabayashi Y, Umetsu K, Yuasa I, ら: "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)

    • Related Report
      2003 Annual Research Report
  • [Publications] Ago K, Ago M.Orihara Y, Nakagawa S, Ogata M: "Polymerase chain reaction amplification of samples from Japanese monkeys using primers for human short tandem repeat loci."Legal Medicine. 5(suppl). S204-S206 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Yuasa I, Umetsu K, Tsuchida S, Irizawa Y, Henke L, Henke J: "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)

    • Related Report
      2003 Annual Research Report
  • [Publications] 湯浅 勲, 入澤淑人, 梅津和夫, 吾郷一利, 三好 綾, 針原伸二, 斎藤成也: "中国漢民族5集団におけるY染色体Binary Polymorphismsの分布"DNA多型. 12(印刷中). (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Oota, H.: "Extreme mtDNA homogeneity in continental Asian populations"American Journal of Physical Anthropology. 118(2). 146-153 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Yuasa, I.: "Molecular analysis of the human esterase D gene ESD^*QO yonago responsible for incompatibility in a Japanese paternity case"Forensic Science International. 126(3). 248-251 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Umetsu, K: "Complete mitochondrial DNA sequence of a tadpole shrimp (Triops cancrifomis) and analysis of museum samples"Electrophoresis. 23(24). 4080-4084 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 湯浅 勲: "オロソムコイド遺伝子の分子進化:ガーナ人母子における遺伝子再構成"DNA多型. 10. 183-185 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 内藤 笑美子: "アリルの父母由来を識別する方法-ゲノムインプリント機構の利用-"DNA多型. 10. 198-200 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Naito, E.: "A novel dimorphism in the human SRYgene : usefulness in human migration study"International Journal of Legal Medicine. 114(4/5). 274-277 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Yuasa I: "Characterlzation of genonic rearrangement of the α1-acid glycoprotein Lorsomucoid gene in Ghanaians"Journal of Human Genetics. 46・10. 572-578 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Umetsu k: "Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations"Electrophoresis. 22(16). 3533-3538 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Yuasa I: "Molecular characterization of four-Alpha-r antitrypsin variant alleles found in a Japanese population"Legal Medicine. 3(4). 213-219 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 大澤資樹: "AHSG遺伝子のハプロタイプ解析"DNA多型. 9. 216-219 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 湯浅勲: "オロソムコイド遺伝子の分子進化・遺伝子の多重化と遺伝子コピー数の多型"DNA多型. 9. 211-215 (2001)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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