Genetic studies of neurofibromatosis
| Project/Area Number |
06454319
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 |
NIIMURA Michihito The Jikei University School of Medicine Department of Dermatology Professor, 医学部・皮膚科学教室, 教授 (00010190)
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| Co-Investigator(Kenkyū-buntansha) |
INABA Yoshikata The Jikei University School of Medicine Department of Dermatology Assistant, 医学部, 助手 (60184727)
SAWADA Shunichi The Jikei University School of Medicine Department of Dermatology Lecturer, 医学部, 講師 (50187291)
HONDA Mariko The Jikei University School of Medicine Department of Dermatology Lecturer, 医学部, 講師 (20100919)
峰咲 幸哲 東京慈恵会医科大学, 医学部, 助手 (40229779)
太田 有史 東京慈恵会医科大学, 医学部, 助手 (20168933)
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| Project Period (FY) |
1994 – 1996
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| Project Status |
Completed (Fiscal Year 1996)
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| Budget Amount *help |
¥6,600,000 (Direct Cost: ¥6,600,000)
Fiscal Year 1996: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1995: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1994: ¥3,500,000 (Direct Cost: ¥3,500,000)
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| Keywords | neurofibromatosis / von Recklinghausen disease / neurilemmomatosis / phacomatosis / gene analysis / 聴神経腫瘍 / 奸斑症 / 優性遺伝 / 遺伝子 / 徨性遺伝 |
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| Research Abstract |
Von Recklinghausen neurofibromatosis 1 (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from embryonic neural crest. The NF1 gene has been mapped to the pericentrometric region of the long arm of chromosome 17. Chromosome walking and sequencing of the NF1 gene have extended it's open reading frame, and todate 60 exons have been identified. To investigate the mutation of NF1 gene, we have determined exon boundaries and splice junctions for all the NF1 exons and have developed working sets of intron-based exon specific primer pairs to amplify the DNA template at all 60 NF1 exons by the polymerase chain technique. We screened genomic DNA from NF1 patients using PCR products for specific amplified NF1 exons. These NF1 exon-specific PCR products were compared to the expected size by electropholetic migration on denaturing gel electrophresis. We also examined the PCR products by SSCP method.
NF2 is an autosomal dominant disorder characterized by the occurence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resides on chromosome 22q12. Neurilemmomatosis is characterized by multiple cutaneous and spinal neurilemmomas without other signs of NF1 or NF2. Many cases with this disorder include the diagnosis of NF or other rate diseases unexplained by current nosology. We analyzed the peripheral leukocytes and tissues from cutaneous neurilemmomas of seven patients with neurilemmmomatosis using DNA markers for different regions of chromosome 22. We detected allelic loss in three of seven tumors with a probe for NF2 region and the germ-line mutations in two patients. We conclude that the neurilemmomatosis locus lies within the NF2 region and that these diseases might be identical.
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Report
(4 results)
Research Products
(22 results)
