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目的探讨肾细胞癌患者中抑癌基因VHL的双等位基因失活发生情况。方法在41例肾细胞癌患者中提取肿瘤和正常组织DNA。采用单链聚合酶链反应(PCR)和测序法检测肿瘤组织中VHL基因的突变情况。采用PCR限制性片段长度多态性法检测VHL基因内部的2个单核苷酸多态性(SNP)位点,在2个位点的杂合子中通过对比肿瘤组织和正常肾组织分析VHL基因的杂合性丢失(LOH)情况。结果在肾细胞癌中51%(21/41)发生VHL基因突变,42%(8/19)发生VHL基因LOH,基因突变和LOH发生具有显著一致性(r=078),在37%(7/19)的肾细胞癌中发生VHL双等位基因失活。结论肾细胞癌中存在由VHL基因突变和LOH导致的VHL双等位基因失活现象,VHL双等位基因失活发生率为37%。
Objective To investigate the occurrence of dual allele inactivation of tumor suppressor gene VHL in patients with renal cell carcinoma. Methods Tumor and normal tissue DNA were extracted from 41 patients with renal cell carcinoma. The mutation of VHL gene in tumor tissue was detected by single-stranded polymerase chain reaction (PCR) and sequencing. Two single nucleotide polymorphisms (SNPs) within the VHL gene were detected by restriction fragment length polymorphism (PCR) and VHL genes were analyzed by comparing the tumor tissues and normal kidney tissues in two heterozygotes Loss of heterozygosity (LOH). Results VHL gene mutation was found in 51% (21/41) of renal cell carcinomas and VHH gene LOH was found in 42% (8/19) (r = 078), with 37% (7) / 19) occurs in renal cell carcinoma VHL double allele inactivation occurs. Conclusion VHL dual-allele inactivation caused by VHL gene mutation and LOH exists in renal cell carcinoma. The incidence of VHL dual allele inactivation was 37%.