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目的:探讨细胞色素P450 17(CYP17)基因多态性与尿道下裂的关系。方法:使用病例对照研究方法，对就诊于贵州医科大学附属医院、贵州省人民医院和贵阳市妇幼保健院的尿道下裂患儿和正常对照组儿童各206例，按年龄进行配对，进行体格检查，同时对尿道下裂组患儿进行临床分型；采用聚合酶链反应(PCR)和限制内切酶(RFLP-PCR)对CYP17基因多态性进行检测；采用自动双向测通的方法对目的基因进行测序；采用化学发光法检测血清性激素水平；应用SPSS 16.0统计学软件对数据进行统计学分析。结果:尿道下裂组与对照组患者A1A1、A1A2和A2A2 3种基因型频率符合Hardy-Weinberger遗传平衡法则；两组间患者基因型分布频率存在差异(n χ2＝4.673，n P<0.05)；两组间野生型和突变型的分布不同，对尿道下裂的患病可能产生影响(n χ2＝6.773，n P<0.05)。Logistic回归分析发现，野生型CYP17(A1A1)基因型可能增加了尿道下裂的患病风险[比值比(n OR)＝0.111，95%可信区间(n CI)＝1.140～71.038，n P<0.05]；CYP17A1A1基因型增加前段型尿道下裂的风险性(n OR＝2.271，95%n CI＝1.231～4.846，n P<0.05)；尿道下裂组T/E2低于对照组(n P<0.05)。n 结论:CYP17基因多态性可能与尿道下裂的有密切关系；CYP17(A1A1)可能是尿道下裂易感基因型。“,”Objective:To explore the relationship between cyzochrome P450 17 (CYP17) gene polymorphism and hypospadias.Methods:In a case-control study, two hundred and twenty children with hypospadias and normal controls were matched according to age, physical examination and clinical typing of hypospadias. Polymerase chain reaction (PCR) and restriction endonuclease (RFLP-PCR) were used to detect CYP17 gene polymorphism, and automatic bidirectional assay was used to sequence the target gene. The level of serum sex hormone was detected by chemiluminescence. SPSS16.0 statistical software was used to analyze the data.Results:The frequencies of A1A1, A1A2 and A2A2 genotypes in the two groups were in accordance with the Hardy-Weinberger genetic balance law. There were differences in the distribution frequencies of A1A1, A1A2 and A2A2 genotypes of CYP17 gene between hypospadias group and control group (n χ2=4.673, n P<0.05). The distribution of wild type and mutant type is different between the two groups, which may have an effect on the incidence of hypospadias (n χ2=6.773, n P<0.01). Logistic regression analysis showed that wild type CYP17 (A1A1) genotype may increase the risk of hypospadias (n OR=0.111, 95%n CI=1.140-7.104, n P<0.05). CYP17A1A1 genotype increases the risk of anterior hypospadias (n OR=2.271, 95%n CI=1.231~4.846, n P<0.05). Testosterone (T)/Estradiol (E2) in hypospadias group was lower than that in control group (n P<0.05).n Conclusion:CYP17 gene polymorphism may be closely related to hypospadias, and CYP17 (A1A1) may be a susceptible genotype of hypospadias.