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目的检测79例散发性肾癌中抑癌基因VHL内部的两个单核苷酶多态(singlenucleotidepolymorphism,SNP)位点并分析杂合性缺失(lossofheterozygosity,LOH)发生情况,探讨VHL基因LOH与肾癌临床病理特征的关系。方法从肿瘤和正常肾组织中提取DNA,应用聚合酶链反应-限制性片段长度多态性方法检测VHL基因5′端SNP位点rs779805和3′端SNP位点rs1642742的基因型。在两个位点的杂合子中进行LOH检测,并分析VHL基因LOH与临床病理特征的关系。结果我们计算了两个位点的基因型、基因频率、杂合度、多态信息含量等遗传学参数。综合两个位点发现杂合子29例,其中12例(41.4%)存在LOH。VHL基因LOH与肾癌发生年龄、性别、临床分期、病理分级无显著相关性。结论在散发性肾癌中,VHL基因LOH是肿瘤发生的重要机理,其发生率达41.4%,VHL基因LOH与肾癌分期、分级无关。
Objective To detect two single nucleotide polymorphism (SNP) sites in tumor suppressor gene VHL in 79 cases of sporadic renal cell carcinoma and to analyze the occurrence of loss of heterozygosity (LOH) Relationship between clinicopathological characteristics and cancer. Methods DNA was extracted from tumors and normal renal tissues. The genotypes of rs779805 at the 5 ’end of VHL gene and rs1642742 at the 3’ end of the VHL gene were detected by polymerase chain reaction - restriction fragment length polymorphism (PCR - RFLP). LOH was detected in the heterozygotes of two loci and the relationship between the LOH of VHL gene and clinicopathological features was analyzed. Results We calculated genetic parameters such as genotype, gene frequency, heterozygosity, polymorphism information content in two loci. Twenty-nine heterozygotes were found in two sites, of which 12 (41.4%) had LOH. There was no significant correlation between VHL gene LOH and age, sex, clinical stage and pathological grade of renal cell carcinoma. Conclusion In sporadic renal cell carcinoma, LOH of VHL gene is an important mechanism of tumorigenesis, the incidence rate is 41.4%. The LOH of VHL gene is not related to the stage and grade of renal cell carcinoma.