联合应用PCR-SSCP和PCR产物测序检测神经鞘瘤患者NF2基因Exon7突变及其意义  

Combined detection of gene mutation with PCR-SSCP and PCR sequencing on exon 7 of neurofibromatosis 2 gene in patients with sporadic Schwannoma

作　　者：薛跃华[1] 林亦海[1] 李招云[2] 张黎明[2] 应炎斌[2] 

机构地区：[1]台州市中心医院神经外科,318000 [2]台州市中心医院检验科,318000

出　　处：《浙江医学》2011年第9期1307-1309,共3页Zhejiang Medical Journal

基　　金：基金项目：浙江省台州市科技计划项目（090KY32）

摘　　要：目的 研究散发神经鞘瘤患者中Ⅱ型多发神经纤维瘤病基因（neurofibromatosis2,NF2）外显子7（Exon7）的突变及意义.方法 采用聚合酶链反应单链构象多态性技术和DNA测序技术检测25例神经鞘瘤中NF2基因Exon7突变.结果 25例神经鞘瘤患者中共发现3例NF2基因Exon7突变,均发生于脊神经鞘瘤,其中剪切受体位点突变1例、移码突变2例.结论 NF2基因Exon7突变可能是脊神经鞘瘤发生的关键因素.Objective To detect gene mutation on exon 7 of neurofbromatosis 2 （NF2） in patients with sporadic Schwannoma. Methods Gene mutations on exon 7 of NF 2 gene in 25 cases of Schwannoma were detected by PCR-SSCP and DNA sequence. Results Three mutations were found in 25 cases of Schwannoma, including one splice donor mutation and two frameshift mutations in spinal tumors. Conclusion Mutations on exon7 of NF2 gene might be one of the critical factors in tumorogenesis of spinal Schwannoma.

关 键 词：神经鞘瘤 NF2基因 外显子7 突变 

分 类 号：R739.4[医药卫生—肿瘤]