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2003 Fiscal Year Final Research Report Summary

Forensic molecular biological applications using single nucleotide polymorphisms (SNPs) regions

Research Project

Project/Area Number 12557041
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section展開研究
Research Field Legal medicine
Research InstitutionNagoya University

Principal Investigator

KATSUMATA Yoshinao  Nagoya University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (30109326)

Co-Investigator(Kenkyū-buntansha) TAMAKI Keiji  Kyoto University, Graduate School of Medicine, Professor, 大学院・医学研究科, 教授 (90217175)
UCHIHI Rieko  Nagoya University, Graduate School of Medicine, Research Associate, 大学院・医学系研究科, 助手 (20223571)
YAMAMOTO Toshimichi  Nagoya University, Graduate School of Medicine, Associate Professor, 大学院・医学系研究科, 助教授 (50260592)
ARAKAWA Yoshichika  National Institute of Infectious Diseases, Department of Bacterial Pathogenesis and infection Control, Director, 細菌・血液製剤部, 部長(研究職) (10212622)
Project Period (FY) 2000 – 2003
KeywordsSNPs / Forensic application / Multiplex / Genetic polymorphism / Japanese / Degraded DNA
Research Abstract

In this study, we tried to establish the appropriate method to detect the genotypes of single nucleotide polymorphisms (SNPs) which are useful for forensic practice such as personal identification and paternity testing. At first, we tested several methods to search which is the best. We found that the allele specific PCR method is convenient for locus selection, and the SnapShot method is suitable for multiplex system. Then, we selected highly polymorphic 51 SNP loci in an Asian population being outside the region of the gene from those listed in the SNP Consortium. Among them, 39 loci were found to be in the Hardy-Weinberg equilibrium by x^2 method with 32 unrelated healthy Japanese. These 39 loci are highly polymorphic in Japanese ; 22 loci show the lower frequencies over than 0.4, and 14 show them over than 0.3. We are now establishing a new multiplex SNP typing system with the 12 out of these 14 loci, which distribute on different chromosome using the same techniques by which we have succeeded in the newly devised STR multiplex system. We also tried to establish a highly sensitive method for the minute and old specimens where DNA is highly degraded. We often get negative results in STR typing with such specimens because of the insufficient amplification. The PCR products of most STR loci are 150-300 bases, while those of SNP loci can be shortened to less than 100 bases. Therefore, SNP loci have a great advantage of the efficient amplification of degraded DNA. We could almost finish the development of the highly sensitive method for several SNP loci.

  • Research Products

    (32 results)

All Other

All Publications (32 results)

  • [Publications] R.Kurihara: "Mutations in 14 Y-STR loci among Japanese father-son haplotypes."Int.J.Legal Med.. 118(in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Yoshimoto: "A novel fluorescent quadruplex STR typing system and the allele frequency distributions in a Thai population."J.Forensic Sciences. 48. 116-121 (2003)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] R.Uchihi: "Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan."Int.J.Legal Med.. 117. 34-38 (2003)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Yamamoto: "Population database and mutation study for short tandem repeat loci on Y-chromosome (Y-STRs) in Japanese populations."Forensic Sci.Rev.. 15. 171-178 (2003)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 打樋利英子: "低分子化DNA試料に有用な新しいY-STR quadruplexタイピングシステム"DNA多型. 11. 178-180 (2003)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] H.Ohtaki: "A powerful, novel, multiplex typing system for six short tandem repeat loci and the allele frequency distributions in two Japanese regional populations."Electrophoresis. 23. 3332-3340 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 臼田奏子: "新しいマルチタイピングシステムを用いた10 Y-STRの日本人及びタイ人におけるハプロタイプ分析"DNA多型. 10. 164-167 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Yoshimoto: "A new triplex STR system without irregular alleles by silver staining and its potential application to forensic analysis."J.Forensic Sciences. 46. 448-452 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Yamamoto: "The application of minisatellite variant repeat mapping by PCR (MVR-PCR) in a paternity case showing false exclusion due to STR mutation."J.Forensic Sciences. 46. 374-378 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] M.Mizutani: "Analysis of 168 short tandem repeat loci in the Japanese population, using a screening set for human genetic mapping."J.Hum.Genet.. 46. 448-455 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 勝又義直: "親子鑑定における確率計算の実際と突然変異への対応-STRキットに利用したDNA鑑定の識別力の検証-"日法医誌. 55. 205-216 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 伊藤美春: "蛍光標識アリル特異的MVR-PCR迅速検出法によるアリル解析"DNA多型. 9. 268-271 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 吉本高士: "新しい蛍光標識quadruplex STRタイピングシステムによる日本人及びタイ人のアリール頻度分布の比較"DNA多型. 9. 167-170 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 神山清文: "Multiplex STRキットを用いた親子鑑定における父子関係排除の信頼性の検討"DNA多型. 9. 128-131 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] M.Tanaka: "Usefulness of a toothbrush as a source of evidential DNA for typing."J.Forensic Sciences. 45. 674-676 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 吉本高士: "マイクロサテライトの新しいトリプレックスシステムの法医学的応用"DNA多型. 8. 245-247 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kurihara R: "Mutations in 14 Y-STR loci among Japanese father-son haplotypes."International Journal of Legal Medicine. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshimoto T: "A novel fluorescent quadruplex STR typing system and the allele frequency distributions in a Thai population."Journal Forensic Sciences. 48(1). 116-121 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Uchihi R: "Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan."International Journal of Legal Medicine. 117(1). 34-38 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yamamoto T: "Population database and mutation study for short tandem repeat loci on Y-chromosome (Y-STRs) in Japanese populations."Forensic Science Review. 15(2). 171-178 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Uchihi R: "Newly designed quadruplex Y-STR typing system for degraded DNA samples."DNA Polymorphisms. 11. 178-180 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ohtaki H: "A powerful, novel, multiplex typing system for six short tandem repeat loci and the allele frequency distributions in two Japanese regional populations."Electrophoresis. 23(19). 3332-3340 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Usuda K: "Haplotype analysis at 10 Y-STR loci using a novel multiplex PCR amplification and typing system in the Japanese and Thai populations."DNA Polymorphisms. 10. 164-167 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshimoto T: "A new triplex STR system without irregular alleles by silver staining and its potential application to forensic analysis."Journal Forensic Sciences. 46(3). 448-452 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yamamoto T: "The application of minisatellite variant repeat mapping by PCR (MVR-PCR) in a paternity case showing false exclusion due to STR mutation."Journal Forensic Sciences. 46(2). 374-378 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Mizutani M: "Analysis of 168 short tandem repeat loci in the Japanese population, using a screening set for human genetic mapping."Journal of Human Genetics. 46(8). 448-455 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Katsumata Y: "Estimating probabilities and dealing with mutations in paternity testing -Verification of DNA testing with commercially available STR kits-."Nippon Houigaku Zasshi. 55(2). 205-216

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Ito M: "Allele analysis by rapid detection allele-specific MVR-PCR with fluorescent dNTPs."DNA Polymorphisms. 9. 268-271 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshimoto T: "Comparison of allele frequency distributions between Japanese and Thais by a new quadruplex STR typing system labeled with fluorescent dyes."DNA Polymorphisms. 9. 167-170 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kamiyama K: "A study on reliability of exclusion of paternity testing using multiplex STR kits."DNA Polymorphisms. 9. 128-131 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tanaka M: "Usefulness of a toothbrush as a source of evidential DNA for typing."Journal Forensic Sciences. 45(3). 674-676 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yoshimoto T: "Forensic application of a new triplex typing system with tetranucleotide microsatellites."DNA Polymorphisms. 8. 245-247 (2000)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2005-04-19  

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