血管网织细胞瘤中VHL基因突变与异常甲基化检测  

Mutation and hypermethylation of VHL gene in angioreticuloma

作　　者：李爱冰[1] 翟广[2] 李志强[3] 袁先厚[3] 

机构地区：[1]广州军区武汉总医院神经外科,武汉430070 [2]河南医科大学第一附属医院神经外科,郑州450052 [3]武汉大学中南医院神经外科,武汉430071

出　　处：《河南医科大学学报》2001年第3期288-290,共3页Journal of Henan Medical University

基　　金：!博士研究生课题

摘　　要：目的 :了解血管网织细胞瘤中VHL基因的突变与异常甲基化。方法 :采用PCR SSCP法检测血管网织细胞瘤中VHL基因的突变率及甲基化 ,敏感限制性内切酶消化法检测血管网织细胞瘤中VHL基因的异常甲基化率。结果 :34例血管网织细胞瘤标本中 ,VHL基因突变率为 6 4 7% ,VHL基因异常甲基化率为 2 3.5 % ,2例同时存在突变与异常甲基化。结论 :VHL基因突变及异常甲基化导致其失活是血管网织细胞瘤发生中的一个经常性事件。Aim:To investigate the mutation and hypermethylation of VHL gene in human angioreticulomas and estimate the relationship between the abnormality of VHL gene and the pathogenesis of angioreticulomas.Methods: The hypermethylation was examined by methyl sensitive restrictive DNA endoenzyme analysis in 34 cases of angioreticuloma and the VHL gene mutations detected by PCR SSCP analysis. Results: Twenty two out 34(64.7%) showed VHL gene mutations, 8 out of 34(23.5%) appeared hypermethylation and 2 cases showed both mutation and hypermethylation. Conclusion: VHL gene abnormality may play an important role in the pathogenesis of angioreticuloma.

关 键 词：VHL基因 基因突变 中枢神经系统 甲基化 血管网织细胞瘤 

分 类 号：R739.41[医药卫生—肿瘤]