膀胱移行细胞癌ras,p53基因点突变检测及其临床病理学意义

为探讨基因的改变在膀胱移行细胞癌发生过程中的意义，应用聚合酶链反应——限制性片段长度多肽性（ＰＣＲ－ＲＦＬＰ）法，检测５０例膀胱移行细胞癌ｒａｓ、ｐ５３基因突变。结果显示：正常膀胱粘膜未检测到基因突变，膀胱移行细胞癌Ｈａ－ｒａｓ基因第１２位密码子突变为１６例（３２％），ｐ５３基因突变为９例（１８％），均系２４８位点突变。Ｈａ－ｒａｓ－１２位点突变率随病理分级增高而增高，与膀胱移行细胞癌分级显著相关（Ｐ＜０．０５）。ｒａｓ基因、ｐ５３基因突变患者死亡率高于无突变患者。４例膀胱移行细胞癌存在ｒａｓ基因及ｐ５３基因共同突变。

Detection of the point mutation of ras and p53 in bladder transitional cell carcinoma and its clinical significance

Mutation of ras and p53 in 50 cases of bladder transitional cell carcinoma (BTCC) was detected with PCR RFLP to explore the role played by gene changes in the occurrence of BTCC. It was found that: (1) No mutation was seen in the normal bladder mucosa while the point mutation at codon 12 of Ha ras gene was found in 16 and that of p53 gene found in 9 cases of BTCC; (2) The point mutation in codon 12 of Ha ras gene increased with progression of the pathological grade ( P <0.05); (3) The mortality of the patients with mutation of ras and p53 was higher than those without; (4) Four cases of BTCC exhibited mutation of both ras and p53 genes.