神经鞘瘤Ⅱ型多发神经纤维瘤病基因外显子2突变及意义

Mutation of exon 2 of neurofibromatosis 2 gene in schwannoma and its significance

研究神经鞘瘤中Ⅱ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 SSCP、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

Purpose:To study the effect of mutation of nuerofibromatosis 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 schwannomas, all in acoustic neuroma, of them, two frameshift mutations and two missense mutations. Conclusions:E2 of NF2 gene mutation might be one of the critical factors in the tumorogenesis of acoustic neuromas.