Utility of Tri-allelic SNP markers within the forensic field.

• Project/Area Number: 23590846
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Legal medicine
• Research Institution: Shinshu University
• Principal Investigator: OTA Masao 信州大学, 医学部, 准教授 (50115333)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2011: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
• Keywords: Tri allelic SNP / Gene Frequency / Criminal Investigation / Identify Testing / Discrimination Power / DNA Mixtures / NGS / Identity Testing / Tri-allelic SNPs / 個人識別 / 多型性

Research Abstract

The single nucleotide polymorphism (SNP) provides the potential advantages in the forensic field due to the low mutation rates and the short sized products by PCR amplification. I investigated genetic information of 25 tri-allelic SNPs selected from the NCBI dbSNP database. Allele frequency for each tri-allelic SNP was calculated from direct allele counts using 96 sequenced Japanese individuals. The total discrimination power was 0.99999999999997 and the cumulative probability of exclusion was 0.99885. The allele determination of tri-allelic SNPs using SNaPshotTM was successful whereas multiplex SNapshotTM assays resulted in ambiguous and required further optimization steps, especially for quantitative measurements of mixed samples. Fundamental experiments using the deep sequencing (NGS) technology and tri-allelic SNPs provided quantitative sensitivity for two mixed DNA sample. The current NGS technology showed usefulness to discriminate quantitatively in the mixed forensic DNA sample.

Research Products

• [Journal Article] Analysis of Y chromosome haplogroups in Japanese population using short amplicons and its application in forensic analysis (2014)
  • Author(s): Harayama Y, Kamei S, Sato N, Hayashi T, Shiozaki T, Ota M, Asamura H
  • Journal Title: Leg Med (Tokyo) Volume: 16 Pages: 20-25
• [Journal Article] Development of multiplex assay with 16 SNPs on X chromosome for degraded samples (2012)
  • Author(s): Oki T, Hayashi T, Ota M, Asamura H
  • Journal Title: Leg Med Volume: 14 Pages: 11-16
• [Journal Article] Development of multiplex assay with 16 SNPs on X chromosome for degraded samples. (2012)
  • Author(s): Oki T, Hayashi T, Ota M, Asamura H
  • Journal Title: Leg Med Volume: 14 Pages: 11-16
  • Peer Reviewed
• [Journal Article] Y染色体系統分類へのMiniPCR-SNPs法の応用（第2法） (2011)
  • Author(s): 沖貴仁、林徳多郎、太田正穂、浅村英樹
  • Journal Title: DNA多型 Volume: 19 Pages: 221-222
  • Peer Reviewed
• [Presentation] Validation of Deep Sequencing using NGS for Resolving DNA Mixtures. (2014)
  • Author(s): Masao Ota, Yoshihiko Katsuyama, Tokutaro Hayashi, Tetsuya Shiozaki, Noriko Sato, Hideki Asamura
  • Organizer: International Symposium on Advances in Legal Medicine
  • Place of Presentation: 福岡：福岡国際会議場
• [Presentation] 日本人における3対立遺伝子性SNPs遺伝子頻度 (2013)
  • Author(s): 太田正穂, 林徳多郎, 塩崎哲也, 佐藤紀子, 布谷美弥, 原山雄太, 浅村英樹
  • Organizer: 第97次日本法医学会学術集会
  • Place of Presentation: roitロイトン札幌, 札幌
• [Presentation] KCNQ1 SNP may pose sudden death risk for patients administered psychoactive medication (2013)
  • Author(s): 亀井佐矢子, 佐藤紀子, 原山雄太, 布谷美弥, 林徳多郎, 塩崎哲也, 太田正穂, 浅村英樹
  • Organizer: 第97次日本法医学会学術集会
  • Place of Presentation: ロイトン札幌, 札幌
• [Presentation] 日本人における3対立遺伝子性SNPs遺伝子頻度 (2013)
  • Author(s): 太田正穂、林徳多郎、塩崎哲也、佐藤紀子、布谷美弥、原山雄太、浅村秀樹
  • Organizer: 第９7次日本法医学会学術集会
  • Place of Presentation: 札幌： ロイトン札幌
• [Presentation] KCNQ1 SNP may pose sudden death risk for patients administered psychoactive medication. (2013)
  • Author(s): 亀井佐矢子、佐藤紀子、原山雄太、布谷美弥、林徳多郎、塩崎哲也、太田正穂、浅村秀樹
  • Organizer: 第９7次日本法医学会学術集会
  • Place of Presentation: 札幌： ロイトン札幌
• [Presentation] 個人識別における3対立遺伝子性SNPs有用性の検討 (2012)
  • Author(s): 太田正穂, 沖貴仁, 林徳多郎, 浅村英樹
  • Organizer: 第96次日本法医学会学術集会
  • Place of Presentation: アクトシティ浜松, 浜松
• [Presentation] Short ampliconに基づいたSNP解析法によるY染色体系統分類-Haplogroup D,Oの細分化- (2012)
  • Author(s): 亀井佐矢子, 佐藤紀子, 原山雄太, 林徳多郎, 太田正穂, 浅村英樹
  • Organizer: 第96次日本法医学会学術集会
  • Place of Presentation: アクトシティ浜松, 浜松
• [Presentation] 個人識別における３対立遺伝性SNPs有用性の検討 (2012)
  • Author(s): 太田正穂、林徳太郎、塩崎哲也、佐藤紀子、浅村英樹
  • Organizer: 第96次日本法医学会
  • Place of Presentation: 浜松
• [Presentation] Short ampliconに基づいたSNP解析法によるY染色体系統分類-Haplogroup D, Oの細分化- (2012)
  • Author(s): 亀井佐矢子、佐藤紀子、原山雄太、林徳太郎、太田正穂、浅村英樹
  • Organizer: 第96次日本法医学会
  • Place of Presentation: 浜松
• [Presentation] 法医DNA検査における3対立遺伝子性SNPs解析 (2011)
  • Author(s): 太田正穂, 沖貴仁, 林徳多郎, 浅村英樹
  • Organizer: 第95次日本法医学会学術集会
  • Place of Presentation: コラッセ福島, 福島
• [Presentation] 性染色体上のSNPs解析法に関する比較検討 (2011)
  • Author(s): 原山雄太, 塚田和彦, 沖貴仁, 林徳多郎, 太田正穂, 浅村英樹
  • Organizer: 第95次日本法医学会学術集会
  • Place of Presentation: コラッセ福島, 福島
• [Presentation] 法医DNA検査における3対立遺伝子性SNPs解析 (2011)
  • Author(s): 太田正穂、沖貴仁、林徳多郎、浅村秀樹
  • Organizer: 第９５次日本法医学会
  • Place of Presentation: 福島
• [Presentation] 自己免疫性膵炎感受性遺伝子の解析 (2011)
  • Author(s): 太田正穂
  • Organizer: 第20回日本組織適合性学会(招待講演)
  • Place of Presentation: 静岡
• [Presentation] Searching for genetic risk factors in autoimmune pancreatitis (2011)
  • Author(s): Ota M
  • Organizer: Symposium 3: Approach for pathogenesis, Genetic Analysis, Pancreas Research Forum (IPRF)(招待講演)
  • Place of Presentation: 大阪
• [Book] Short ampliconに基づいたSNP解析によるY染色体系統分類法と法医実務試料への応用,DNA多型, 21 (2013)
  • Author(s): 原山雄太, 亀井佐矢子, 佐藤紀子, 林徳多郎, 塩崎哲也, 太田正穂, 浅村英樹
• [Book] 性染色体上SNPs解析法に関する比較検討, DNA多型, 20 (2012)
  • Author(s): 原山雄太, 沖貴仁, 塚田和彦, 林徳多郎, 太田正穂, 浅村英樹
• [Book] Y染色体系統分類へのMiniPCR-SNPs法の応用(第2法), DNA多型, 19 (2011)
  • Author(s): 沖貴仁, 林徳多郎, 太田正穂, 浅村英樹