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DNA Analysis of the NF1 Gene in Patients with von Recklinghause Neurofibromatosis (NF1) and NFV

Research Project

Project/Area Number 08670985
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionThe Jikei University School of Medicine

Principal Investigator

SAWADA Shunichi  The Jikei University School of Medicine, Department of Dermatology, Assistant Professor, 医学部, 講師 (50187291)

Co-Investigator(Kenkyū-buntansha) YONEMOTO Hiroaki  The Jikei University School of Medicine, Department of Dermatology, Fellow, 医学部, 助手 (30266704)
MATSUSHITA Tetsuya  The Jikei University School of Medicine, Department of Dermatology, Fellow, 医学部, 助手 (80266684)
NAKATA Yoshiko  The Jikei University School of Medicine, Department of Dermatology, Fellow, 医学部, 助手 (20256423)
Project Period (FY) 1996 – 1998
Project Status Completed (Fiscal Year 1998)
Budget Amount *help
¥2,600,000 (Direct Cost: ¥2,600,000)
Fiscal Year 1998: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1997: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1996: ¥1,200,000 (Direct Cost: ¥1,200,000)
KeywordsNF1 / PCR / SSCP / second hit / somatic mutation / segmental NF (NFV)
Research Abstract

#1-1 Detection of Germllne Mutations at the Neurofibromatosis 1 Locus
We have determined exon boundaries and splice junctions for all the NFl exons and have developed working sets of intron-based exon-specific primer pairs to amplify the DNA template at all 60 NFl exons by PCR technique. As a pilot study, we screened genomic DNA from 20 NFl patients. These PCR products were examined by size-shift assay and SSCP method. We identified 10 mutations(small deletion ; 1, small insertion ; 2, stop mutation ; 2, amino acid substitution ; 1 intron mutation*exon skipping ; 4).
#1-2 Identiflcation of Large NFl Deletion In Two Cases with von Recklinghausen Neurofibromatosis by Using MS-PCR and FISH Analysis
Thirty four constitutional DNAs extracted from von Recklinghausen neurofibromatosis patients were examined by using mutagenically separated(MS)-PCR and fluorescence in situ hybridization(FISH) method. Two cases showed a large NFl deletion involving the NFl gene. Case1 : A 46-year-old woman was dia … More gnosed as having anaplastic MPNST( malignant peripheral nerve sheath tumor) associated with sporadic NFl. Case2 : A 45-year-old man with NFl had multiple blue lesions in the nail beds of both hands. Histological diagnosis were typical glomus tumors. In addition, a neurofibroma surrounded the glomus tumor mass in three of five specimens.
#2 Genetic Analysis of the NFl gene in patients with segmental NF
"Segmental NF (or NFV)" refers to signs of NFl, cafe-au-lait and multiple neurofibromas, restricted to a limited area on one side of the body. We report two mothers who have localized caf&au-iait spots (representing segmental NF ? ), in which signs of full brown NFl appeared in a single member of the next generation. Segmental NE is believed to be somatically mosaichism. We speculate that our cases could be recognized by the idea of gonosomic mosaics (masaic in both somatic and germ-line cells).
#3 Identification of NFl Mutations in Both Alleles of a Dermal Neurofibroma
We show that a dermal neurofibroma from an NFl individual who has a constitutional deletion of the entire NFl locus harbours a 4-bp deletion of NFl exon 4b in the other allele. This is the first definitive identification of somatic mutation which is limited to the NFl locus in a benign neurofibroma from an NFl individual. Less

Report

(4 results)
  • 1998 Annual Research Report   Final Research Report Summary
  • 1997 Annual Research Report
  • 1996 Annual Research Report
  • Research Products

    (31 results)

All Other

All Publications (31 results)

  • [Publications] Shunichi Sawada 他: "Identificationof NF1 mutation in both alleles of a dermal neurofibroma" Nature Genetics. 14. 110-112 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Smita M.Purandare 他: "Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus" Am.J.Human Genetics. 59. 159-166 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 澤田 俊一, 他: "神経線維腫症" 皮膚科の臨床. 39. 1103-1108 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 澤田 俊一, 他: "神経線維腫症1(NF1), 2(NF2)遺伝子" 医学のあゆみ. 183. 422-423 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 澤田 俊一, 他: "NF1 large deletionが確認されたレックリングハウゼン病の2例" 日本皮膚科学会雑誌. 108. 1265-1274 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 澤田 俊一: "神経線維腫症1遺伝子(NF1)のDNA解析" 平成9年度日皮会基礎医学研究費 研究報告集. 4-6 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 澤田 俊一: "家族性腫瘍(監修 : 宇都宮譲二)中山書店" 神経線維腫症1(Recklinghausen病) : NF1遺伝子, 415(225-229) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 澤田 俊一: "皮膚診療クイックリファレンス(新村眞人監修)メディカルビュー社" 神経線維腫症, 430(306-308) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Shunichi Sawada, et al.: "Identification of Large NF1 Deletion in Two Cases with von Recklinghausen Neurofibromatosis by Using MS-PCR and FISH Analysis" Japanese Journal of Dermatology. Vol.108. 1265-1274 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Shun'ichi Sawada, et al.: "Neurofibromatosis1 Gene (NF1)" In Jyoji Utunomiya, Familial Tumors. Nakayama-shoten. 225-229 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Shun'ichi Sawada, et al.: "Neurofibromatosis" In Michihito Niimura, Quick Reference of Clinical Dermatology. Medical View Co.306-308 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Shun'ichi Sawada, et al.: "Neurofibromatosis" Rinsho Derma. Vol.39. 1103-1108 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Shun'ichi Sawada, et al.: "Neurofibromatosis1 (NF1) and 2(NF2) Gene." Igaku no ayumi. Vol.183. 422-423 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Shun'ichi Sawada, et al.: "Identificationof NF1 Mutation in Both Alleles of a Dermal Neurofibroma." Nature Genetics. Vol.14. 110-112 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Smita M.Purandare, Shun'ichi Sawada, et al.: "Genotyping of PCR-based Polymorphisms and Linkage-disequilibrium Analysis at the NF1 Locus." Am.J.Human Genetics. Vol.59. 159-166 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Shunichi Sawada 他: "Identification of NF1 mutation in both alleles of a dermal neurofibroma" Nature Genetics. Vol.14. 110-112 (1996)

    • Related Report
      1998 Annual Research Report
  • [Publications] Smita M.Purandare 他: "Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus" Am.J.Human Genetics. Vol.59. 159-166 (1996)

    • Related Report
      1998 Annual Research Report
  • [Publications] 澤田俊一,他: "神経線維腫症" 皮膚科の臨床. Vol.39. 1103-1108 (1997)

    • Related Report
      1998 Annual Research Report
  • [Publications] 澤田俊一,他: "神経線維腫症1(NF1),2(NF2)遺伝子" 医学のあゆみ. Vol.183. 422-423 (1997)

    • Related Report
      1998 Annual Research Report
  • [Publications] 澤田俊一,他: "NF1 large deletion が確認されたレックリングハウゼン病の2例" 日本皮膚科学会雑誌. Vol.108. 1265-1274 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 澤田俊一,他: "神経線維腫症1遺伝子(NF1)のDNA解析" 平成9年度日皮会基礎医学研究費 研究報告集. 4-6 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 澤田俊一: "家族性腫瘍(監修:宇都宮譲二)中山書店" 神経線維腫症1(Recklinghausen病):NF1遺伝子, 415(225-229) (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 澤田俊一: "皮膚診療クイックリファレンス(新村眞人監修)メディカルビュー社" 神経線維腫症, 430(306-308) (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Shunichi Sawada 他: "Identificationof NF1 mutation in both alleles of a dermal neurofibroma" Nature Genetics. Vol.14. 110-112 (1996)

    • Related Report
      1997 Annual Research Report
  • [Publications] Smita M.Purandare 他: "Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus" Am.J.Human Genetics. Vol.59. 159-166 (1996)

    • Related Report
      1997 Annual Research Report
  • [Publications] 澤田 俊一,他: "神経線維腫症" 皮膚科の臨床. Vol.39. 1103-1108 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 澤田 俊一,他: "神経線維腫症1(NF1),2(NF2)遺伝子" 医学のあゆみ. Vol.183. 422-423 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Shunichi Sawada: "Identification of NF1 mutation in both alleles of a dermal neurofibroma" Nature Genetics. Vol.14. 110-112 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Smita M.Purandare: "Identification of Neurofibromatosis 1 (NF1) Homologous Loci by Direct Sequencing,Florescence in Situ Hybridization,and PCR Amplification of Somatic Cell Hybrids" Genomics. Vol.30. 476-485 (1995)

    • Related Report
      1996 Annual Research Report
  • [Publications] Smita M.Purandare: "Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis" Am.J.Human Genetics. Vol.59. 159-166 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] David Viskochil: "Identification of NF1 mutations in both alleles of a dermal neurofibroma" The American Society of Human Genetics 46th Annual Meeting. (1996)

    • Related Report
      1996 Annual Research Report

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Published: 1996-04-01   Modified: 2016-04-21  

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