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Development of the methods of the detection of unstable DNA sequences of genes in pediatric neurological disorders.

Research Project

Project/Area Number 06557048
Research Category

Grant-in-Aid for Developmental Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionJichi Medical School

Principal Investigator

MOMOI Mariko  Jichi Medical School, Pediatrics, Professor, 医学部, 教授 (90166348)

Co-Investigator(Kenkyū-buntansha) SAITO Sugiko  Jichi Medical SChool, Pediatrics, Associate, 医学部, 助手 (00260836)
ICHIHASI Kou  Jichi Medical School, Pediatrics, Associate, 医学部, 助手 (70213006)
KOBAYASI Yoko  Jichi Medical School, Pediatrics, Associate, 医学部, 助手 (20245046)
OGURO Noriko  Jichi Medical School, Pediatrics, Associate, 医学部, 助手 (10214107)
YAMAGTA Takanori  Jichi Medical School, Pediatirics, Associate, 医学部, 助手 (00239857)
Project Period (FY) 1994 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥8,500,000 (Direct Cost: ¥8,500,000)
Fiscal Year 1995: ¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 1994: ¥5,000,000 (Direct Cost: ¥5,000,000)
Keywordsunstable DNA / (CAG / CTG)n / fragile X syndrome A / fragile X syndrome E / fragile X syndrome / 家族性精神遅滞 / 脆弱x症候群 / 不安定DNA配列
Research Abstract

1.The direct detection of the expansion of the unstable gene suquences using ligation and PCR failed to detect expanded DNA fragment in blood cells of patients with myotonic dystrophy and DRPLA.This indicated that the detection of expanded DNA sequences had to use specific nucleotides as primers rather than nonspecific tripret repeaat sequences. We applied LA-PCR method in detecting expanded DNA fragments in diseases describedabove, and the results were satisfactory.
2.To detect new expanded gene sequences as the cause of the neurological disorders, genes with unstable triplet repeat sequences were cloned from human brain cDNA library. cloned cDNA and genes were analyzed for their sequences and localization on human chromosomes. the l ; ocalizatin in the brain was analyzed by in situ hybridizatin method to suggest the possible relation with the neurological disorders.

Report

(3 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • Research Products

    (4 results)

All Other

All Publications (4 results)

  • [Publications] Mori M,Yamagata T,Mori Y,Nobubi M,Saito K,Furusuno Y,Momoi MY: "Elasticfiber Degeneration in Costello Syndrome" American Journal of Medical Genetics. 61. 304-309 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Murasa T,Khorobu Y,Tsurakhara T,Momoi MY,Kimuta I,Momoi T: "Wortmannin enhances cpp-32-like activity during neuronal diffeicentiution of P19EC cells" Biiochem.Biophys.Res.Commun. (in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Psuri T,Yamagata T,Suwa K,Momoi MY.: "Screening for fragile X syndrome in fanilial mental retrudation" Pediatric Neurology. (in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Mori M,Yamagata T,Momoi M: "Elastin tiber digeneration in Costello syndrome." American Journal of Medical Genetics. (in press). (1996)

    • Related Report
      1995 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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