细胞色素氧化酶P4504B1基因突变与膀胱癌遗传易感性的关系

Relationship between cytochrome P450 4B1 gene mutation and bladder cancer susceptibility

目的:探讨细胞色素氧化酶P450(CYP)4B1基因突变与膀胱癌遗传易感性的关系。方法:应用PCR-单链构象多态性(PCR-SSCP)分析和直接测序分析,分别检测152例膀胱癌患者和150例非肿瘤同期住院患者CYP4B1的各个常见突变基因位点,分析基因突变对膀胱癌发病的影响。结果:膀胱癌组CYP4B1 C517T、AT881-882del+G993A+C1018T和C1123T突变基因型频率高于对照组(χ2=8.266、16.218和15.347,P<0.05);不同病理分级及临床分期膀胱癌患者间CYP4B1各突变基因型频率差异无统计学意义(P>0.05)。结论:携带CYP4B1C517T、AT881-882del+G993A+C1018T和C1123T突变基因型者更易患膀胱肿瘤。

Aim： To investigate the relationship between cytochrome P450（ CYP） 4B1 gene mutation and bladder cancer susceptibility.Methods： Frequency of genotype of CYP4B1 were determined by PCR-SSCP and sequencing in 152 patients with bladder cancer（ observation group） and 150 nontumor patients（ control group）.Results： The frequency of heterozygote of CYP4B1 C517 T,AT881-882 del ＋ G993 A ＋ C1018 T and C1123 T in observation group were higher than those in control group（ χ2= 8.266,16.218 and 15.347,P〈 0.05）.There were no significant differences in genotype frequency distribution among patients with different pathology grade and clinical stage（ P〈 0.05）.Conclusion： The individuals possessing CYP4B1 C517 T,AT881-882 del ＋ G993 A ＋ C1018 T and C1123 T mutational genotypes would be suscepitable to bladder cancer.