[肾细胞癌患者中冯·希佩尔-林道肿瘤抑制基因VHL双等位基因失活分析]
[Analysis of biallelic inactivation of the von Hippel-Lindau tumor suppressor gene VHL in patients of renal cell carcinoma patient].
作者信息
Liu Ning, Gong Kan, Zhang Ning, Guo Hong-feng, Na Xi, Wu Guan, Na Yan-qun
机构信息
Department of Urology, The First Hospital, Peking University, Beijing 100034, China.
出版信息
Zhonghua Wai Ke Za Zhi. 2005 Jan 15;43(2):115-7.
OBJECTIVE
To investigate biallelic inactivation of the von Hippel-Lindau tumor suppressor gene (VHL) in patient of renal cell carcinoma (RCC) patient.
METHODS
We extracted tumor and normal DNA from 41 RCC patients. Mutation of VHL gene from tumor tissue was detected from tumor tissue by polymerase chain reaction (PCR) and direct sequencing. Two single nucleotide polymorphism (SNP) sites located in VHL gene were analyzed by PCR restriction fragment length polymorphism, and loss of heterozygosity (LOH) was analyzed for VHL gene by comparing between tumor with normal tissue.
RESULTS
Mutation and LOH of VHL gene was found in 51% (21/41) and 42% (8/19) of RCC patients respectively. LOH was highly associated with mutation positive tumors (r = 0.78) and VHL biallelic inactivation was detected in 37% of RCC patients.
CONCLUSION
Biallelic inactivation of VHL gene occurs in RCC due to VHL mutation and LOH, and its frequency rate is 37%.
目的
研究肾细胞癌（RCC）患者中冯·希佩尔-林道肿瘤抑制基因（VHL）的双等位基因失活情况。
方法
我们从41例RCC患者中提取肿瘤和正常DNA。通过聚合酶链反应（PCR）和直接测序从肿瘤组织中检测VHL基因的突变。通过PCR限制性片段长度多态性分析位于VHL基因中的两个单核苷酸多态性（SNP）位点，并通过比较肿瘤组织与正常组织分析VHL基因的杂合性缺失（LOH）。
结果
分别在51%（21/41）和42%（8/19）的RCC患者中发现VHL基因的突变和LOH。LOH与突变阳性肿瘤高度相关（r = 0.78），并且在37%的RCC患者中检测到VHL双等位基因失活。
结论
由于VHL突变和LOH，VHL基因的双等位基因失活发生在RCC中，其发生率为37%。
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