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Estimation of the mutation rates of various genetic DNA markers on Y-chromosome and searching for its recombination hot-spot

Research Project

Project/Area Number 13670422
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

YAMAMOTO Toshimichi  Nagoya University, Graduate School of Medicine, Associate Professor, 大学院・医学系研究科, 助教授 (50260592)

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)
KATSUMATA Yoshinao  Nagoya University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (30109326)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2002: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2001: ¥2,200,000 (Direct Cost: ¥2,200,000)
KeywordsY-chromosome / STR / Mutation / Genetic polymorphism / Genetic markers
Research Abstract

In forensic fields, short tandem repeat loci (Y-STRs) and single nucleotide polymorphisms (Y-SNPs) on Y-chromosome have been used for paternal relationship testing and for detecting genotypes originated from males in sexual assault cases. The haplotypes at 14 Y-STR loci were analyzed about two regional Japanese populations (207 in Honshu and 87 in Okinawa) and a Thai population (117) using the 10-plex (DYS436, DYS439, DYS435, DYS19, DYS460, Y-GATA-H4, DYS391, DYS392, DYS438, DYS437) devised by NIST in the USA and the commercially released Y-PLEX6 kit (DYS393, DYS19, DYS389, DYS390, DYS391, DYS385) having two common loci (DYS19 and DYS391) to the10-plex. The allele frequencies at each locus were calculated, and it was found that DYS436 was very uninformative in all populations. Accordingly, in our modified 10-plex, the locus DYS436 was changed for DYS389I, which is one of the minimal database loci in the worldwide Y-STR Database. Using the modified 10-plex and the Y-PLEX 6,14 Y-STRs were easily typed. The heredity of these 14 Y-STRs from father to the son were analyzed by using 161 Japanese father-son DNA samples, and 5 mutations were observed. Sequence analysis revealed that one repeat was gained at DYS389I, DYS439, Y-GATA-H4 and DYS389II, and one repeat was lost at DYS391 in meiosis. The overall mutation rate was calculated as 0.22%/ locus/ meiosis (95% C.I. 0.09 - 0.55%). This value is about the same as those in German and Norwegian populations. Consequently, the estimation of the mutation rates of DNA markers on Y-chromosome was achieved. Further studies are necessary about searching for the recombination hot-spots.

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (15 results)

All Other

All Publications (15 results)

  • [Publications] R.Uchihi: "Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan"International J. Legal Medicine. 117. 34-38 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 栗原リナ: "ヒトY染色体のSTRで観察された突然変異"DNA多型. 10. 110-113 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [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
    • Related Report
      2002 Final Research Report Summary
  • [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
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kurihara R: "A mutation case observed at 14 Y-STR loci in the Japanese population"DNA Polymorphisms. 10. 110-113 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [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
    • Related Report
      2002 Final Research Report Summary
  • [Publications] R.Uchihi: "Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan"International J.Legal Medicine. 117. 34-38 (2003)

    • Related Report
      2002 Annual Research Report
  • [Publications] 栗原リナ: "ヒトY染色体のSTRで観察された突然変異"DNA多型. 10. 110-113 (2002)

    • Related Report
      2002 Annual Research Report
  • [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)

    • Related Report
      2002 Annual Research Report
  • [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(2). 374-378 (2001)

    • Related Report
      2001 Annual Research Report
  • [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(3). 448-452 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] M.Mizutani: "Analysis of 168 short tandem repeat loci in the Japanese population, using a screening set for human genetic mapping"J.Human Genetics. 46(8). 448-455 (2001)

    • Related Report
      2001 Annual Research Report
  • [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(2). 205-216 (2001)

    • Related Report
      2001 Annual Research Report
  • [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)

    • Related Report
      2001 Annual Research Report
  • [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)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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