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Development of a personal identification method by multiple kinships analysis using whole-genome information.

Research Project

Project/Area Number 19K22758
Research Category

Grant-in-Aid for Challenging Research (Exploratory)

Allocation TypeMulti-year Fund
Review Section Medium-sized Section 58:Society medicine, nursing, and related fields
Research InstitutionKyoto University

Principal Investigator

Tamaki Keiji  京都大学, 医学研究科, 教授 (90217175)

Project Period (FY) 2019-06-28 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Fiscal Year 2020: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2019: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
KeywordsDNA多型 / ジェネオロジー / 血縁鑑定 / 身元確認 / SNPs / ICS / DNA / 一塩基多型
Outline of Research at the Start

米国では企業が持つ膨大なDNAデータベースから個人間の血縁関係を推定し家系図を作成するジェネオロジー(genealogy:系図学)が注目されている。しかし、実際の分析は2者間に限定されており、その分析精度も低いため、法医実務には使えない。本研究ではジェネオロジー理論をさらに発展させ、塩基配列情報から、人工知能の介在によって精度の高いハプロタイプを作成して比較することにより、身元不明者のスクリーニングと該当家族内の複数の捜索依頼者の血縁関係が判定できるシステムの構築を行う。

Outline of Final Research Achievements

We have developed software named KinBN that can determine the kinship by calculating the likelihood ratio about the presence of complex kinship such as involving more than two people. KinBN is now listed online and anyone can download and use it free of charge. We also prepared simulated denatured DNA samples in which the DNA concentration and fragmentation were changed stepwise, and examined how much the SNPs information was obtained using a microarray. The results showed that it was possible to determine up to the third-degree blood relationship even if there was some DNA denaturation. It was also found that even if the number of 25,000 SNPs can confirm the relationship up to the third-degree blood relationship unless there are no erroneous base calls.

Academic Significance and Societal Importance of the Research Achievements

現行のDNA型検査に伴う遠縁や複数人の参照者を用いる複雑な血縁鑑定においても、多数ローカス間の連鎖を考慮した正確な尤度比が算出できるようになった。このため、在宅試料がなく異同識別検査では身元を確認できない大規模災害などで、多数の死亡者が出た際の身元確認に非常に有効となる。また、DNAマイクロアレイによるSNPsタイピングはある程度DNAが断片化した変性試料においても、血縁の判断が可能なことがわかった。このため、精度の高い血縁者検索法を提案することが可能となり、戦没者遺骨の身元確認のような変性した微量のDNA検査にも福音をもたらすと期待される。

Report

(3 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • Research Products

    (5 results)

All 2020 Other

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (3 results) Remarks (1 results)

  • [Journal Article] Development of a software for kinship analysis considering linkage and mutation based on a Bayesian network.2020

    • Author(s)
      Morimoto C, Tsujii H, Manabe S, Fujimoto S, Hirai E, Hamano Y, Tamaki K.
    • Journal Title

      Forensic Sci Int Genet.

      Volume: 47 Pages: 102279-102279

    • DOI

      10.1016/j.fsigen.2020.102279

    • Related Report
      2020 Annual Research Report 2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] User-friendly visualization of global DNA identification matching in multi-victim disaster.2020

    • Author(s)
      Chinyi Cheng, 眞鍋 翔, 玉木敬二, 山田 亮.
    • Organizer
      日本DNA多型学会第29回学術集会.
    • Related Report
      2020 Annual Research Report
  • [Presentation] GlobalFiler Kitを用いた 3500 Genetic analyzerにおけるピークの判定閾値の検討.2020

    • Author(s)
      井上花菜, 眞鍋 翔, 桜井健祥, 曲 敏潔, 花村天斗, 川合千裕, 玉木敬二
    • Organizer
      日本法科学技術学会第26回学術集会.
    • Related Report
      2020 Annual Research Report
  • [Presentation] Precision ID GlobalFiler NGS STR Panel v2による日本人データベースの構築(第1報).2020

    • Author(s)
      大内 司, Guan Xueting, 平井瑛里子, 眞鍋 翔, 大林将弘, 橋谷田真樹, 赤根 敦, 安達 登, 玉木敬二, 舟山眞人.
    • Organizer
      第104次日本法医学会学術全国集会.
    • Related Report
      2020 Annual Research Report
  • [Remarks] DNA多型の法医学応用と法数学的解釈

    • URL

      http://www.fp.med.kyoto-u.ac.jp/about#re01

    • Related Report
      2020 Annual Research Report

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Published: 2019-07-04   Modified: 2022-01-27  

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