Genetic diagnosis for Neurofibromatosis type 2
| Project/Area Number |
08671981
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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 |
Otorhinolaryngology
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| Research Institution | Jichi Medical School |
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Principal Investigator |
SUGAWARA Komei Jichi Medical School, Dept.of Otolaryngology, 医学部, 助手 (50179123)
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| Co-Investigator(Kenkyū-buntansha) |
KITAMURA Ken Jichi Medical School, Dept.of Otolaryngology, Professor, 医学部, 教授 (90010470)
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| Project Period (FY) |
1996 – 1997
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| Project Status |
Completed (Fiscal Year 1997)
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| Budget Amount *help |
¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 1997: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1996: ¥800,000 (Direct Cost: ¥800,000)
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| Keywords | Neurofibromatosis type2 / Gene / Bilateral vestibular schwannoma / 神経繊維腫症 / NF2 / 遺伝子異常 / schwannomin |
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| Research Abstract |
Neurofibromatosis type2 (NF2) is a severe, often fatal condition in which patients usually present with symptoms from tumors affecting the CNS.We, along with other researchers, investigated whether there is a correlation between the molecular defects in the NF2 gene and the disease phenotype in affected individuals.
We screened 111 NF2 cases (73 NF2 families) for mutation in the entire coding region of NF2, using single-stranded conformational analysis (SSCA). Isolation of constitutional DNA directly from peripheral blood leucocytes in each patients was performed. All 17 exons of the NF2 gene were examined for point mutations by using SSCA with the primers obtained previously, and the exon showing an abnormal SSCA pattern were amplified by PCR.Mutations were further verified by repeating the sequencing from a second PCR,and the relationship between the results of this screening and the clinical details was analyzed
In 111 NF2 patients, sixty-seven individuals (56.2%) revealed 36 different putative disease-causing mutations. Twenty-four of 28 patients with mutations that cause premature truncation of the NF2 protein, schwannoma, present with severe phenotype. In contrast, 16 cases with mutation that affect only a single amino acide have mild NF2. These data may proveide evidence that a phenotype/genotype correlation exists for certain NF2 mutations.
By using PCR analysis, we also tried to screen the mutation of NF2 gene in a specimen of laryngeal neuroma with bilateral vestibular schwannoma. In this case, however, no putative mutation of NF2 gene was detected. Further investigation of NF2 gene in tumor tissues would be required to elucidate phenotype/genotype association in NF2.
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Report
(3 results)
Research Products
(7 results)
