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Identification of contributors in the low-template and mixed samples by forensic mathematical estimation and experimental analysis

Research Project

Project/Area Number 23390184
Research Category

Grant-in-Aid for Scientific Research (B)

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

Principal Investigator

TAMAKI Keiji  京都大学, 医学(系)研究科(研究院), 教授 (90217175)

Co-Investigator(Kenkyū-buntansha) 鶴山 竜昭  京都大学, 医学(系)研究科(研究院), 准教授 (00303842)
Project Period (FY) 2011-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥18,850,000 (Direct Cost: ¥14,500,000、Indirect Cost: ¥4,350,000)
Fiscal Year 2013: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2012: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2011: ¥7,930,000 (Direct Cost: ¥6,100,000、Indirect Cost: ¥1,830,000)
KeywordsDNA多型医学 / 混合試料 / STR / 血縁者 / DNA多型
Research Abstract

Analyzing mixed or/and low-template DNA samples is challenging but inevitable in current forensic DNA test. We reevaluated autosomal STR multiplex typing kit and found that allele peak imbalance of heterozygote occurred even in a single person sample. Therefore, the determination of the heterozygous combination is not always reliable and the binary method which does not use the allelic peak heights still showed very powerful in mixed samples from 2 or 3 individuals.
While it is often said that there is a risk that non-contributors cannot be excluded in a mixed sample, the simulated analysis using a large number of the mixed samples revealed that the first grade kin of the contributor is erroneously included as a contributor although its proportion is small. Moreover, 37 loci of autosomal STR were genotyped and the allele frequencies and the discriminating power were estimated in the Japanese population. Finally, the analytical procedure from mixed samples has been established.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • Research Products

    (40 results)

All 2013 2012 2011 Other

All Journal Article (20 results) (of which Peer Reviewed: 10 results) Presentation (20 results) (of which Invited: 3 results)

  • [Journal Article] Allele frequencies of 37 short tandem repeat loci in a Japanese population2013

    • Author(s)
      Ozeki M, Tamaki K
    • Journal Title

      Leg Med

      Volume: 15(6) Pages: 342-6

    • Related Report
      2013 Final Research Report
  • [Journal Article] Application of permanents of square matrices for DNA identification in multiple-fatality cases2013

    • Author(s)
      Narahara M, Tamaki K, Yamada R
    • Journal Title

      BMC Genet

      Volume: 14(1) Pages: 72-72

    • NAID

      120005323880

    • Related Report
      2013 Final Research Report
  • [Journal Article] Multiplex PCR for 18 X-chromosomal STRs in Japanese population2013

    • Author(s)
      Nakamura Y, Samejima M, Tamaki K, Minaguchi K
    • Journal Title

      Leg Med (Tokyo)

      Volume: 15(3) Pages: 164-70

    • Related Report
      2013 Final Research Report
  • [Journal Article] Mixture interpretation : Experimental and simulated reevaluation of qualitative analysis2013

    • Author(s)
      Manabe S, Mori Y, Kawai C, Ozeki M, Tamaki K
    • Journal Title

      Leg Med (Tokyo)

      Volume: 15(2) Pages: 66-71

    • Related Report
      2013 Final Research Report
  • [Journal Article] Simulated approach to estimate the number and combination of known/unknown contributors in mixed DNA samples using 15 short tandem repeat loci2013

    • Author(s)
      Manabe S, Kawai C, Tamaki K
    • Journal Title

      Forensic Sci Int Genet Suppl Ser

      Volume: 4 Pages: 154-5

    • NAID

      120005366013

    • Related Report
      2013 Final Research Report
  • [Journal Article] 混合試料における関与者に血縁者を想定する必要性について2013

    • Author(s)
      真鍋翔, 川合千裕, 宮尾昌, 石田季子, 小谷泰一, 玉木敬二
    • Journal Title

      DNA多型

      Volume: 21 Pages: 204-8

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [Journal Article] 父母由来を区別した真の突然変異率の推定2013

    • Author(s)
      真鍋翔, 川合千裕, 畑野翔太郎, 垣本由布, 尾関宗孝, 玉木敬二
    • Journal Title

      DNA多型

      Volume: 21 Pages: 228-31

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [Journal Article] Allele frequencies of 37 short tandem repeat loci in a Japanese population.2013

    • Author(s)
      Ozeki M, Tamaki K.
    • Journal Title

      Leg Med

      Volume: 15(6) Issue: 6 Pages: 342-6

    • DOI

      10.1016/j.legalmed.2013.08.006

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Application of permanents of square matrices for DNA identification in multiple-fatality cases.2013

    • Author(s)
      Narahara M, Tamaki K, Yamada R
    • Journal Title

      BMC Genet.

      Volume: 14 Issue: 1 Pages: 72-72

    • DOI

      10.1186/1471-2156-14-72

    • NAID

      120005323880

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Multiplex PCR for 18 X-chromosomal STRs in Japanese population2013

    • Author(s)
      Nakamura Y, Samejima M, Tamaki K, Minaguchi K
    • Journal Title

      Leg Med

      Volume: 15 Issue: 3 Pages: 164-170

    • DOI

      10.1016/j.legalmed.2012.10.006

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mixture interpretation: Experimental and simulated reevaluation of qualitative analysis.2013

    • Author(s)
      Manabe S, Mori Y, Kawai C, Ozeki M, Tamaki K.
    • Journal Title

      Leg Med

      Volume: 15(2) Issue: 2 Pages: 66-71

    • DOI

      10.1016/j.legalmed.2012.09.001

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Simulated approach to estimate the number and combination of known/unknown contributors in mixed DNA samples using 15 short tandem repeat loci.2013

    • Author(s)
      Manabe S, Kawai C, Tamaki K.
    • Journal Title

      Forensic Sci Int Genet Suppl Ser

      Volume: 4 Pages: 154-5

    • NAID

      120005366013

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mixture interpretation: Experimental and simulated reevaluation of qualitative analysis.2013

    • Author(s)
      Manabe S et al.
    • Journal Title

      Leg Med

      Volume: 15 Pages: 66-71

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identifiler Kit を用いたDNA鑑定におけるアリルピークの不安定性2012

    • Author(s)
      真鍋翔, 川合千裕, 尾関宗孝, 玉木敬二
    • Journal Title

      DNA多型

      Volume: 20 Pages: 178-82

    • Related Report
      2013 Final Research Report
  • [Journal Article] 継承ベクトルを用いた複雑な家系の血縁鑑定2012

    • Author(s)
      奈良原舞子, 玉木敬二, 山田亮
    • Journal Title

      DNA多型

      Volume: 20 Pages: 278-85

    • Related Report
      2013 Final Research Report
  • [Journal Article] Identifiler Kitを用いたDNA鑑定におけるアリルピークの不安定性2012

    • Author(s)
      真鍋翔 ら
    • Journal Title

      DNA多型

      Volume: 20 Pages: 178-82

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] DNA混合試料の濃度変化によるアリルピークの影響について2011

    • Author(s)
      真鍋翔, 尾関宗孝, 川合千裕, 垣本由布, 木田佳枝, 鶴山竜昭, 玉木敬二
    • Journal Title

      DNA多型

      Volume: 19 Pages: 193-9

    • NAID

      10029668869

    • Related Report
      2013 Final Research Report
  • [Journal Article] Efficacy of extended kinship analyses utilizing commercial STR kit in establishing personal identification2011

    • Author(s)
      Yoshida K, et al
    • Journal Title

      Legal Med

      Volume: 13 Pages: 41-258

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] DNA混合試料の濃度変化によるアリルピークの影響について2011

    • Author(s)
      真鍋翔, ら
    • Journal Title

      DNA多型

      Volume: 19 Pages: 148-151

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 混合試料における法数学的解析プログラムの開発・検討・利用2011

    • Author(s)
      竹内晴哉, ら
    • Journal Title

      DNA多型

      Volume: 19 Pages: 193-199

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] Simulated approach to estimate the numbers and combinations of2013

    • Author(s)
      Manabe S, et al.
    • Organizer
      25th Congress of the International Society for Forensic Genetics
    • Place of Presentation
      Melbourne, Australia
    • Related Report
      2013 Annual Research Report
  • [Presentation] 擬父の血縁者が関わる親子鑑定における孤立否定の危険性について2013

    • Author(s)
      真鍋 翔ら
    • Organizer
      第97次日本法医学会学術全国集会
    • Place of Presentation
      札幌
    • Related Report
      2013 Annual Research Report
  • [Presentation] 同胞鑑定例におけるIdentifiler検査の有効性の検討2013

    • Author(s)
      真鍋 翔ら
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      仙台
    • Related Report
      2013 Annual Research Report
  • [Presentation] 被疑者の血縁者の関与を想定した尤度比計算のプログラミングとその評価2013

    • Author(s)
      真鍋 翔ら
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      仙台
    • Related Report
      2013 Annual Research Report
  • [Presentation] 微量混合試料分析 ~海外の動きと今後~.2013

    • Author(s)
      玉木 敬二
    • Organizer
      第19回日本法科学技術学会 法生物ミニシンポジウム
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] ソフトウェアを用いた微量混合試料分析法2013

    • Author(s)
      真鍋 翔
    • Organizer
      第19回日本法科学技術学会 法生物ミニシンポジウム
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] ISFGの指針に基づいたstochastic effectを考慮した解釈について.2013

    • Author(s)
      川合 千裕
    • Organizer
      第19回日本法科学技術学会 法生物ミニシンポジウム
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 混合試料における関与者に血縁者を想定する必要性について2012

    • Author(s)
      真鍋翔 ら
    • Organizer
      日本DNA多型学会第21回学術集会
    • Place of Presentation
      京都
    • Related Report
      2012 Annual Research Report
  • [Presentation] 父母由来を区別した真の突然変異率の推定2012

    • Author(s)
      真鍋翔 ら
    • Organizer
      日本DNA多型学会第21回学術集会
    • Place of Presentation
      京都
    • Related Report
      2012 Annual Research Report
  • [Presentation] 常染色体37STRローカスにおける日本人アレル頻度2012

    • Author(s)
      尾関宗孝 ら
    • Organizer
      日本DNA多型学会第21回学術集会
    • Place of Presentation
      京都
    • Related Report
      2012 Annual Research Report
  • [Presentation] Identifiler Kitを用いたDNA鑑定におけるアリルピークの不安定性2011

    • Author(s)
      真鍋翔, ら
    • Organizer
      日本DNA多型学会第20回学術集会
    • Place of Presentation
      はまぎんホール(横浜)
    • Year and Date
      2011-12-02
    • Related Report
      2011 Annual Research Report
  • [Presentation] Alle peak instability in identifying genotype of DNA mixture

    • Author(s)
      Manabe S, Ozeki M, Kotani H, Tsuruyama T, Tamaki K
    • Organizer
      第95次日本法医学会学術全国集会.日本法医学雑誌
    • Place of Presentation
      福島
    • Related Report
      2013 Final Research Report
  • [Presentation] Identifiler Kit を用いたDNA 鑑定におけるアリルピークの不安定性

    • Author(s)
      真鍋翔, 川合千裕, 尾関宗孝, 玉木敬二
    • Organizer
      日本DNA多型学会第20回学術集会.DNA多型学会第20回学術集会抄録集
    • Place of Presentation
      神奈川
    • Related Report
      2013 Final Research Report
  • [Presentation] 混合試料解析における関与者を推定する尤度比の有用性について

    • Author(s)
      真鍋翔, 尾関宗孝, 堀元英, 小谷泰一, 鶴山竜昭, 玉木敬二
    • Organizer
      第96次日本法医学会学術全国集会.日本法医学雑誌
    • Place of Presentation
      浜松
    • Related Report
      2013 Final Research Report
  • [Presentation] 混合試料における関与者に血縁者を想定する必要性について

    • Author(s)
      真鍋翔, 川合千裕, 宮尾昌, 石田季子, 小谷泰一, 玉木敬二
    • Organizer
      日本DNA 多型学会第21回学術集会
    • Place of Presentation
      京都
    • Related Report
      2013 Final Research Report
  • [Presentation] 父母由来を区別した真の突然変異率の推定

    • Author(s)
      真鍋翔, 川合千裕, 畑野翔太郎, 垣本由布, 尾関宗孝, 玉木敬二
    • Organizer
      日本DNA 多型学会第21回学術集会
    • Place of Presentation
      京都
    • Related Report
      2013 Final Research Report
  • [Presentation] 混合資料のDNA鑑定結果~諸外国での状況について~

    • Author(s)
      玉木敬二
    • Organizer
      第18回日本法科学技術学会法生物ミニシンポジウム
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report
  • [Presentation] Simulated approach to estimate the numbers and combinations of known/unknown contributors in mixed DNA samples using 15 short tandem repeat loci

    • Author(s)
      Manabe S, Kawai C, Tamaki K
    • Organizer
      25th Congress of the International Society for Forensic Genetics. Abstracts
    • Place of Presentation
      Melbourne, Australia
    • Related Report
      2013 Final Research Report
  • [Presentation] 被疑者の血縁者の関与を想定した尤度比計算のプログラミングとその評価

    • Author(s)
      真鍋翔, 川合千裕, 垣本由布, 石田季子, 宮尾昌, 玉木敬二
    • Organizer
      日本DNA多型学会第22回学術集会
    • Place of Presentation
      仙台
    • Related Report
      2013 Final Research Report
  • [Presentation] 微量混合試料分析 ~海外の動きと今後~

    • Author(s)
      玉木敬二
    • Organizer
      第19回日本法科学技術学会法生物ミニシンポジウム
    • Place of Presentation
      東京
    • Related Report
      2013 Final Research Report

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Published: 2011-04-06   Modified: 2019-07-29  

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