| Project/Area Number |
08670985
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | The Jikei University School of Medicine |
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Principal Investigator |
SAWADA Shunichi The Jikei University School of Medicine, Department of Dermatology, Assistant Professor, 医学部, 講師 (50187291)
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| 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)
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| Project Period (FY) |
1996 – 1998
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| Project Status |
Completed (Fiscal Year 1998)
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| 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)
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| Keywords | NF1 / PCR / SSCP / second hit / somatic mutation / segmental NF (NFV) |
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| 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
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