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ANALYSIS OF NEUROFIBROMATOSIS GENE

Research Project

Project/Area Number 04670651
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Dermatology
Research InstitutionTHE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE

Principal Investigator

HONDA Mariko  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,ASSISTANT PROFESSOR, 医学部, 講師 (20100919)

Co-Investigator(Kenkyū-buntansha) SAWADA Shunichi  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,ASSISTANT, 医学部, 助手 (50187291)
OHTA Arihito  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,ASSISTANT, 医学部, 助手 (20168933)
NIIMURA Michihiro  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE,DERMATOLOGY,PROFESSOR, 医学部, 教授 (00010190)
Project Period (FY) 1992 – 1994
Project Status Completed (Fiscal Year 1994)
Budget Amount *help
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1994: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1993: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1992: ¥600,000 (Direct Cost: ¥600,000)
KeywordsGENE LOCUS / NEURILEMMOMATOSIS / NEUROFIBROMATOSIS 2 / 神経線維腫症 / 白血病抑制遺伝子
Research Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the occurrence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resides on chromosome 22q12 and has been cloned recently. Neurilemmomatosis is characterized by multiple cutaneous and spinal schwannomas without other sings of NF1 or NF2. Many cases with this disorder, include the diagnosis of neurofibromatosis or other rare diseases unexplained by current nosology.
In this study we analyzed the peripheral leukocytes and tissue from cutaneous neurilemmomas from seven patients with neurilemmomatosis using DNA markers for different regions of chromosome 22. We detected allelic losses in three of seven patients with a probe for the NF2 region of the long arm of chromosome 22 and the germ-line mutations in twomof three tumors from the same threepatients. Mutations in the NF2 gene were a deletion from at least codon 334 to 579 and G insertion at codon 42. We conclude that the neurilemmomatosis locus lies within the NF2 region and that these diseases might be identical.

Report

(4 results)
  • 1994 Annual Research Report   Final Research Report Summary
  • 1993 Annual Research Report
  • 1992 Annual Research Report
  • Research Products

    (19 results)

All Other

All Publications (19 results)

  • [Publications] 本田まりこ: "神経線維腫症1,2" 実験医学. 12. 87-90 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 本田まりこ: "神経鞘腫症の遺伝子解析" 臨皮. 49. 1-5 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Mariko Honda: "Neurof bromatosis 2 and Neurilemmomatosis Gene Are Identical" J.Invest Dermatol. 104. 74-77 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 本田まりこ: "神経鞘腫症の遺伝子解析" 厚生省特定疾患神経皮膚症候群調査研究班平成5年度. 47-49 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 本田まりこ: "神経鞘腫症の遺伝子解析" 厚生省特定疾患神経皮膚症候群調査研究班平成4年度. 31-33 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 新村眞人: "神経線維腫症" BIO medica. 7. 52-56 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Mariko Honda, Eiko Arai, Schunichi Sawada, Arihito Ohta, and Michihito Niimura: "Neurofibromatosis 2 and Neurilemmomatosis Gene Are Identical" J Invest Dermatol. 104. 74-77 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Mariko Honda, & Michihito Niimura: "Neurofibromatosis type 1, type 2." Experimental Medicine. 12. 739-745 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Mariko Honda, & Michihito Niimura: "Analysis of Neurilemmomatosis gene" Japanese Journal of Clinical Dermatology. 49. 1-5 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shunichi Sawada, Mariko Honda, & Michihito Niimura: "Molecular Genetic Analysis of the von Recklinghausen Neurofibromatosis (NF1) Gene Using Polymerase Chain Reaction-Single Strand Conformation Polymorphhism Method." J Dermatol. 21. 294-300 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shunichi Sawada, Mariko Honda, Ryoichi Kamide & Michihito Niimura: "Three cases of subungual tumors with von Recklinghausen neurofibromatosis." J Am Acad Dermatol. 32. 277-278 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 本田まりこ: "神経線維腫症" 実験医学. 12. 87-90 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Mariko Honda: "Neurof'bromatosis 2 and Neurilemmomatosis Gene are Identical" J.Invest Dermatol. 104. 74-77 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] Shunichi Sawada: "Neurof'bromatosis Gene Using PCR-SSCP" J.Dermatol. 21. 294-300 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 本田まりこ: "神経鞘腫症の遺伝子解析" 臨皮. 49. 1-5 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 本田まりこ: "神経線維腫症" 実験医学. 12. 87-90 (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] Shunichi Sawada: "Neunofibromatosis" J Dermatol. 21. (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] 新村 眞人,本田 まりこ: "神経線維腫症" BIO medica. 7. 52-56 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 本田 まりこ: "神経線維肺症の遺伝子解析" 厚生省特定疾患 神経皮膚症候群調査研究班. (1993)

    • Related Report
      1992 Annual Research Report

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Published: 1992-04-01   Modified: 2016-04-21  

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