膀胱癌患者血浆和尿液中p53基因突变的研究及其意义

目的：探讨体液中检测膀胱癌肿瘤细胞DNA的方法和意义。方法：应用聚合酶链反应（PCR）扩增30例膀胱癌患者血浆和尿液中p53基因第5、6、7和8我显子片段，应用单链构象多态分析（SSCP）法检测变异，并对变异片段测序。对照组中的检测结果，比较差异。结果：组织中可以检测到p53基因8种改变，血浆中检测到4种，与组织相比符合率为50.0％。尿液中检测到8种符合率62.5％。体液检测突变性质与相应组织是一致的。免疫组织化学染色以阳性细胞占20％为阳性界值时，结果与测序法接近。结论：体液中检测实体肿瘤细胞的突变基因片段用来诊断肿瘤或提供肿瘤生物学行为的相关信息，是一种有前途的诊断方法。

The significance of detecting p53 gene mutations in plasma and urine of bladder cancer patients

Objective To explore the methods and the significance of detecting tumor DNA in body fluid.Methods The 5,6,7 and 8 exon of p53 gene in plasma and urine of 30 patients with bladder carcinoma were extracted and amplified by PCR,and then,detected by SSCP techniques,finally the variations were found by sequencing. The results were compared with those of tumor tissues.Results Eight variations were detected in tumor tissues,and 4 variations in plasma samples and 5 variations in urine samples,same to those in the corresponding tissues. The accuracy in plasma was 50.0%,while that in urine was 62.5%. When the cutoff of positive rate was determined as 20%,the result of immunohistochemistry was near to that of sequencing.Conclusion It would be a potential method of detecting some gene variations in plasma and urine to diagnose carcinoma or to provide some helpful associative information.