Practical merging DNA typing technology and mathematical interpretation of the typing results towards creation of comprehensive forensic DNA profiles from mixture samples
| Project/Area Number |
16H05273
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Legal medicine
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| Research Institution | Kyoto University |
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Principal Investigator |
TAMAKI Keiji 京都大学, 医学研究科, 教授 (90217175)
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| Co-Investigator(Kenkyū-buntansha) |
小谷 泰一 京都大学, 医学研究科, 准教授 (20330582)
山田 亮 京都大学, 医学研究科, 教授 (50301106)
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| Research Collaborator |
MANABE Sho
HIRAI Eriko
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥15,210,000 (Direct Cost: ¥11,700,000、Indirect Cost: ¥3,510,000)
Fiscal Year 2018: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2016: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
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| Keywords | DNA多型 / マイクロサテライト / STR / 微量混合試料 / continuous model / DNA多型医学 |
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| Outline of Final Research Achievements |
In forensic casework, the number of DNA analysis of mixture samples of two or more individuals has rapidly increased. We developed a new software (named as “Kongoh”) which can estimate the likelihood ratio (LR) about contribution of a person of interest (POI) by analyzing DNA typing results from the capillary electrophoresis (CE) based on a continuous model, and validated it by referring to the SWGDAM guidelines. Kongoh showed much higher LR values about a POI’s contribution with those based on other models. Analysis of experimentally generated DNA mixture samples by the high-throughput sequencing (NGS) were also performed whether it can be applied to forensic mixture analysis. The sensitivity of NGS was higher than that of conventional CE although the number of NGS reads differs depending on the locus, and a few loci could not obtain any reads. It is necessary to revise the plug-in software which extracts the exact target STR sequences to improve the accuracy of mixture analysis.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究では急増する複数の人のDNAが混合した試料の検査結果の数学的分析手法として、閾値設定を必要としないコンティニュアスモデルに基づいた新しいソフトウェアを作成し、実験的混合試料などによって検証した。このソフトウェアは自動的に最適な関与人数を推定するというこれまでにない特徴があり、プログラムに馴染みのない人でも使用することができる。また、ウェブ上にソースコードが公開されているので、アルゴリズムの検証ができる。また、次世代シークエンシングを混合試料の解析に初めて試用した。その結果、検出感度は従来法より高い反面、実務応用には課題が残されていることがわかり、今後の研究の方向性を示すことができた。
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Report
(4 results)
Research Products
(20 results)
