Gong Kan, Zhang Ning, Guo Hong-feng, Zhang Zhi-wen, Xin Dian-qi, Na Yan-qun
Department of Urology, Peking University First Hospital, Beijing 100034, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2004 Apr;36(2):169-72.
To investigate the mutation of VHL gene, an important tumor suppressor gene in primary sporadic human renal cell carcinoma (RCC) and analyse its relationships with pathological stage and grade of renal cell carcinoma.
We analyzed 57 cases of primary sporadic Chinese renal clear carcinoma using the polymerase chain reaction (PCR) and denaturing high performance liquid chromatography(DHPLC). All positive cases in DHPLC analysis were further characterized by direct sequencing.
Somatic mutations were detected in 30 (53%) of 57 clear cell renal carcinomas including 13 deletions, 2 insertions, and 15 missense mutations. These mutations mainly occurred in the last one-third region of exon 1, 2,and 3.
VHL tumor suppressor gene is one of the major tumor suppressor genes in human renal cell carcinoma and there are frequent mutations of VHL in primary sporadic Chinese renal clear cell carcinomas. The mutations of VHL gene were irrespective of the age and pathological grade and stage of patients.
研究人类原发性散发性肾细胞癌（RCC）中重要的肿瘤抑制基因VHL基因的突变情况，并分析其与肾细胞癌病理分期及分级的关系。
我们采用聚合酶链反应（PCR）和变性高效液相色谱法（DHPLC）分析了57例中国原发性散发性肾透明细胞癌病例。DHPLC分析中的所有阳性病例均通过直接测序进一步鉴定。
在57例透明细胞肾细胞癌中，有30例（53%）检测到体细胞突变，其中包括13例缺失、2例插入和15例错义突变。这些突变主要发生在外显子1、2和3的最后三分之一区域。
VHL肿瘤抑制基因是人类肾细胞癌中的主要肿瘤抑制基因之一，在中国原发性散发性肾透明细胞癌中VHL基因存在频繁突变。VHL基因突变与患者的年龄、病理分级及分期无关。
