【摘要】 目的　探讨肾透明细胞癌VHL基因突变与缺氧诱导因子 1α(HIF 1α)表达的关系及意义。方法　应用聚合酶链反应 (PCR)、变性高效液相色谱 (DHPLC)、基因测序及免疫组织化学方法检测 32例肾透明细胞癌患者手术切除癌组织及远离肿瘤的正常肾脏组织中VHL基因突变及HIF 1α的表达。结果　 32例患者中 17例 (5 3 1% )癌组织术前有VHL基因突变 ,32例远离肿瘤的正常肾脏组织均无HIF 1α表达 ;17例VHL突变的癌组织中 12例 (70 6 % )有HIF 1α表达 ,15例无VHL突变的癌组织中 4例 (2 6 7% )有HIF 1α表达 ,二者相比差异有显著意义 (P <0 0 5 )。结论　VHL基因在肾透明细胞癌中具有高频突变率 ,HIF 1α在癌组织中的表达与VHL基因突变相关更多还原

【Abstract】 Objective To evaluate the significance of somatic mutations of VHL gene and hypoxia inducible factor 1α (HIF 1α) expression in primary renal clear cell carcinoma(RCC) Methods Mutation of VHL gene and HIF 1α expression were detected by means of PCR,denaturing high performance liquid chromatography (DHPLC),direct sequencing and immunohistochemistry in 32 samples from primary renal clear cell carcinoma patients Results In 32 RCC samples,17 samples(53 1%) had and 32 samples of adjacent nonmalignant renal tissue had not mutations of VHL gene expression Twelve RCC samples(70 6%) which had mutations of VHL gene expressed HIF 1α,and it had significant difference to 4 RCC(26 7%) samples which didn’t have mutations of VHL gene ( P <0 05) Conclusion Mutations of VHL gene may play a significant role in the tumorigenesis of RCC,and HIF 1α expression correlates with it更多还原