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Polymorphism of Microsatellite Markers on Human Sex Chromosomes and analysis of mutation rate in the same individual.

Research Project

Project/Area Number 11670405
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Legal medicine
Research InstitutionAsahikawa Medical College

Principal Investigator

SHIONO Hiroshi  School of Medicine, Asahikawa Medical College, Professor, 医学部, 教授 (20112451)

Co-Investigator(Kenkyū-buntansha) UEZONO Takashi  School of Medicine Asahikawa Medical College, Instructor, 医学部, 助手 (70294387)
SHIMIZU Keiko  School of Medicine, Asahikawa Medical College, lecturer, 医学部, 講師 (90312462)
佐々木 雅弘  旭川医科大学, 医学部, 助手 (80250546)
Project Period (FY) 1999 – 2000
Project Status Completed (Fiscal Year 2000)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,900,000)
Fiscal Year 2000: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1999: ¥2,500,000 (Direct Cost: ¥2,500,000)
Keywordssex chromosome / microsatellite / allele distribution / mutation rate
Research Abstract

Microsatellite markers on human sex chromosomes have not extensively been studied to date.
We characterized polymorphic features of microsatellites on human X and Y chromosomes as follows .
1) Genomic DNA specimens were prepared from blood samples collected from individuals randomly selected from 200 Japanese and 111 German populations.
Microsatellite markers DYS388, DYS390, DYS391, DYS392 and DYS393 had 8, 7, 5 and 10 polymorphic alleies, respectively.
Among them, DYS388, DYS391, DYS392 and DYS393 were inadquate as polymorphic markers for use in forensic medicine, since allele frequencies were not evently distributed at these loci resulting in less sufficient heterozygosity.
2) The distribution of DYS390 in the Japanese population was impartial and useful for personal identification.
3) Regardins STRs on X chromosomes, DNA samples from patients with several X-linked diseases were tested for a possible association with a STRs obtained in the previous study.
4) Based on allele frequencies of STRs on Y chromosomes obtained in the previous study, polymorphic disversity of microsatellite at several loci of Y chromosomes were tested for potential usefulness in distinguishing individuals suspected of a sex crime on for determing blood relationship with regand to specific male DNA samples, DYS390 showed heterozygosity at respective loci sufficient for distinguishing individuals.
5) The allelic mutation was found 11 cases of 25 uterine cancers in the same individual.
6) Androgen receptor (AR) showed higher mutation rate than other markers of Y chromosome.

Report

(3 results)
  • 2000 Annual Research Report   Final Research Report Summary
  • 1999 Annual Research Report
  • Research Products

    (18 results)

All Other

All Publications (18 results)

  • [Publications] 水上 創、塩野 寛: "Y染色体上に存在するSTRの人類遺伝学的考察"DNA多型. 7. 175-177 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Sasaki, M Shiono, H: "The polymorphisms of DYS388 and DYS392 on the Y chromosome in Japanese and German populations."Int J Legal Med. 112(2). 132-133 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Sasaki, M Dahiya, R: "The polymorphisms of various short tendem repeats on the Ychromosome in Japanese and German populations"Int J Legal Med. 113(3). 181-188 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 水上 創、塩野 寛: "MN式血液型の変異型の解析"DNA多型. 8. 213-221 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 赤根 敦、塩野 寛: "MN式血液型M対立遺伝子の解析"DNA多型. 8. 222-224 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Akane, A.Shiono, H: "Classification of standard alleles of MN Blood Group System"Vox Sanguinis. 79. 183-187 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Hajime Mizukami, Hiroshi Shiono et al.: "Tetra-nucleotide repeat polymorphisms on the Y chromosome in two population."DNA Polymorphisms.. 7. 175-177 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Masahiro Sasaki, Hiroshi Shiono et al.: "The polymorphisms of DYS388 and DYS392 on the Y chromosome in Japanese and German populations."Int J Legal Med. 112(2). 132-133 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Masahiro Sasaki, Hiroshi Shiono et al.: "The polymorphisms of various short tendeme repeats on the Y chromosome in Japanese and German populations."Int J Legal Med. 113(3). 181-188 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Hajime Mizukami, Hiroshi Shiono et al.: "analysis of a varint of MN blood group."DNA Polymorphisms. 8. 213-221 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Atushi Akane, Hiroshi Shiono et al.: "DNA analysis of MN blood groups."DNA Polymorphisms. 8. 222-224 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Atushi Akane, Hiroshi Shiono et al.: "Classification of standard alleles of MN blood group system."Vox Sanguinis. 79. 183-187 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Sasaki,M Dahiya,R: "The polymorphisms of various short tendem repeats on the Ychromosome in Japanese and German populations"Int J Legal Med. 113(3). 181-188 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 水上創,塩野寛: "MN式血液型の変異型の解析"DNA多型. 8. 213-221 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 赤根敦,塩野寛: "MN式血液型M対立遺伝子の解析"DNA多型. 8. 222-224 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Akane,A.Shiono,H: "Classification of standard alleles of MN Blood Group System"Vox Sanguinis. 79. 183-187 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 水上 創、塩野 寛: "Y染色体に存在するSTRの人類遺伝学的考察"DNA多型. 7. 175-177 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Sasaki,M.: "The Polymorphisms of DYS388 and DYS392 on the Y chromosome in Japanese and German populations"

    • Related Report
      1999 Annual Research Report

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Published: 1999-04-01   Modified: 2016-04-21  

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