神经鞘瘤中NF2基因外显子2突变及意义

The mutation of exon 2 of neurofbromatosis 2 gene in Schwannoma and its significance

目的 :研究神经鞘瘤中 型多发神经纤维瘤病基因 (NF2 )外显子 2的突变及其意义。方法 :用 PCR- SS-CP、 DNA测序检测 36例神经鞘瘤 (听神经瘤 16例 ,其它 2 0例 )中 NF2基因外显子 2的突变。结果 :我们共发现 4例突变 ,均为听神经瘤 ,其中移码突变 2例、反义突变 2例。结论 :NF2基因外显子 2的突变可能是听神经瘤发生中的关键因素。

Objective: To study the edffct of mutation of neurofibromatosis 2(NF2) gene (exon 2) in schwannomas. Methods: The NF2 gene (exon2) mutation in 36 schwannomas(16 acoustic neuromas, 20 other schwannomas) were observed by PCR-SSCP and DNA sequence.Results: We found 4 mutations in 36 schwwannomas, all in acoustic neuroma. Of them, two frameshift mutations and two missense mutations. Conclusion: E2 of NF2 gene mutation might be one of the critical factor in the tumorogenesis of acoustic neuromas