论文部分内容阅读
目的检测JWA启动子单核苷酸多态性(single nucleotide polymorphisms,SNPs),探讨其对基因转录活性的影响和与膀胱癌遗传易感性的相关性。方法应用聚合酶链反应-单链构象多态性和DNA测序的方法,检测了155例膀胱癌病例和155例非肿瘤对照人群的JWA基因启动子多态性位点;构建启动子多态性片段氯霉素乙酰转移酶报告基因重组质粒,瞬时转染NIH-3T3细胞,检测启动子多态性片段对基因转录活性的影响。结果检测到一个新SNP-76G→C;C等位基因和GC基因型频率在膀胱癌病例组为10·00%、20.00%,比正常对照组(5.16%、10.32%)高,差异有统计学意义(P<0.05);与GG基因型相比,GC基因型启动子的转录活性显著降低(P<0.01)。Logistic多元回归分析结果(P<0.05,OR=2.05)显示这一多态性可能是形成膀胱癌新的独立危险因素。结论JWA基因启动子-76G→C多态性可能影响JWA基因转录和表达,从而增加膀胱癌易感性。
Objective To detect the single nucleotide polymorphisms (SNPs) of JWA promoter and to explore its influence on gene transcriptional activity and its association with genetic susceptibility to bladder cancer. Methods Polymorphisms of JWA gene in 155 cases of bladder cancer and 155 cases of non-tumor control were detected by polymerase chain reaction-single strand conformation polymorphism and DNA sequencing. The promoter polymorphism Fragment chloramphenicol acetyltransferase gene recombinant plasmid, transiently transfected NIH-3T3 cells to detect promoter polymorphism of the gene transcription activity. Results A new SNP-76G → C was detected. The frequencies of C allele and GC genotype were 10.00% and 20.00% in bladder cancer cases, which were higher than those in normal controls (5.16%, 10.32%) (P <0.05). The transcriptional activity of GC genotype promoter was significantly lower than that of GG genotype (P <0.01). Logistic multiple regression analysis (P <0.05, OR = 2.05) showed that this polymorphism may be a new independent risk factor for the formation of bladder cancer. Conclusion JWA gene promoter -76G → C polymorphism may affect JWA gene transcription and expression, thus increasing the susceptibility to bladder cancer.