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 2的突变可能是听神经瘤发生中的关键因素 To study the mutation of exon 2 of multiple neurofibromatosis gene (NF2) in schwannoma and its significance. Methods: The mutation of exon 2 of NF2 gene in 36 schwannoma (acoustic neuroma 16 cases, 20 cases) was detected by PCR SSCP and DNA sequencing. Results: We found a total of 4 cases of mutations, all acoustic neuroma, of which 2 cases of frameshift mutation and 2 cases of antisense mutation. Conclusion: The mutation of exon 2 of NF2 gene may be the key factor in the development of acoustic neuroma