1992 Fiscal Year Final Research Report Summary
Studies on gene locus in neurofibromatosis
| Project/Area Number |
02454281
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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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, 教授 (00010190)
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| Co-Investigator(Kenkyū-buntansha) |
INABA Yoshitaka The Jikei University School of Medicine Department of Dermatology Assistant, 医学部, 助手 (60184727)
OTA Arihito The Jikei University School of Medicine Department of Dermatology Assistant, 医学部, 助手 (20168933)
HONDA Mariko The Jikei University School of Medicine Department of Dermatology Lecturer, 医学部, 講師 (20100919)
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| Project Period (FY) |
1990 – 1992
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| Keywords | neurofibromatosis / von Recklinghausen disease / neurilemmomatosis / gene analysis / chromosome 22 |
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| Research Abstract |
The term neurofibromatosis has been used to describe two clinically and genetically distinct hereditable disorders. The gene resposible for classical von Recklinghausen disease (NF-1) was cloned on chromosome 17q11.2 in 1990. DNAs of peripheral leukocytes of patients with NF-1 were extracted. Using primers of exons of NF-1 gene, DNAs were amplified by polymerase chain reaction. The amplified DNAs were examined by single strand conformation polymorphism. Thirty patients with NF-1 were examined so far, and no patients with mutation was found.
The gene for NF-2, which is characterized by occurrence of bilateral acoustic neuromas, has been mapped to chromosome 22, but not yet cloned so far. Neurilemmomatosis is characterized by periphral and spinal scwannomas, without acoustic tumors. It is not clear whether these two diseases are caused by the same gene or not. We analyzed DNAs of the blood and tumors from patients with neurilemmomatosis. In 3 tumors of 7 patients with cutaneous neurilemmomas, we found partial monosomy of chromosome 22 by using DNA probes D22S15, LIF, and e5, which span 22q11.2. This finding suggests that neurilemmomatosis locus lies within the NF-2 gene, and the two diseases may be caused by the same gene.
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