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目的:探讨p53第3内含子16bp插入/缺失多态性与膀胱移行细胞癌发病风险的关系。方法:采用序列特异性引物,以PCR方法检测90例膀胱移行细胞癌患者和110例健康对照个体外周血DNA p53基因第3内含子的基因型。结果:膀胱癌组与对照组p53基因第3内含子16bp插入或缺失序列(PIN3)的A、A′等位基因频率分别83.33%、11.67%及96.36%、3.64%,两组比较差异有统计学意义(P<0.05);两组中三种基因型频率分别为76.67%、23.33%、0和92.73%、7.27%、0,分布差异有统计学意义(P<0.05)。膀胱移行细胞癌按临床分期比较:浅表性癌、浸润性癌突变与野生基因型差异有统计学意义(P<0.05);按病理分级比较:G1～G2、G3突变与野生基因型差异有统计学意义(P<0.05);按性别和年龄分组:两组突变与野生基因型频率比较差异均无统计学意义(P>0.05)。结论:p53第3内含子16bp插入/缺失多态性与膀胱癌发病风险存在相关性,可能是膀胱移行细胞癌患病的易感基因。
Objective: To investigate the relationship between the 16 bp insertion / deletion polymorphism of p53 intron 3 and the risk of bladder transitional cell carcinoma. Methods: Sequence-specific primers were used to detect the genotypes of the third intron of DNA p53 gene in 90 cases of transitional cell carcinoma of bladder and 110 cases of healthy controls. Results: The frequency of A and A allele of 16 bp insertion or deletion sequence (PIN3) of p53 gene in bladder cancer group and control group were 83.33%, 11.67% and 96.36%, 3.64% respectively, there was significant difference between the two groups (P <0.05). The frequencies of the three genotypes in the two groups were 76.67%, 23.33%, 0 and 92.73%, 7.27%, 0 respectively. The distribution of the three genotypes was statistically significant (P <0.05). Bladder transitional cell carcinoma by clinical staging: superficial cancer, invasive cancer mutation and wild genotype differences were statistically significant (P <0.05); by pathological grading: G1 ~ G2, G3 mutation and wild genotype differences Statistical significance (P <0.05); by sex and age groups: the two groups of mutations and wild genotypes frequency difference was not statistically significant (P> 0.05). CONCLUSION: The 16 bp insertion / deletion polymorphism of p53 intron 3 is associated with the risk of bladder cancer and may be a susceptible gene to bladder transitional cell carcinoma.