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目的:研究细胞色素P450(CYP)1A1基因MspI多态性对尿道下裂患儿的易感性。方法:选取贵州籍单纯性尿道下裂患儿(尿道下裂组)和正常健康儿童(对照组)各38例,采用聚合酶链式反应(PCR)和限制内切酶(RFLP-PCR)技术检测两组被检儿童静脉血白细胞基因组DNA中CYP1A1 MspI基因多态性,CYP1A1 MspI中等位基因分布频率及Hardy-Weinberg定律检验,分析两组被检者等位基因频数及CYP1A1基因MspI多态性位点基因型频数。结果:CYP1A1 MspI PCR产物经酶切后可见340、200和140 bp 3种片段;CYP1A1 MspI中等位基因分布频率及Hardy-Weinberg定律检验显示,两组儿童静脉血中,尿道下裂组与对照组m1、m2两等位基因分布频率,以及m1m1、m1m2、m2m2这3种基因型频数比较,差异无统计学意义(P>0.05)。结论:CYP1A1 MspI基因m1、m2等位基因分布频率及m1m1、m1m2、m2m2这3种基因型与尿道下裂发生可能无相关性。
Objective: To investigate the susceptibility of children with hypospadias to the MspI polymorphism of cytochrome P450 (CYP) 1A1 gene. Methods: Thirty-eight children with hypospadias (hypospadias) and normal healthy children (control group) of Guizhou were enrolled in this study. Polymerase chain reaction (PCR) and restriction endonuclease (RFLP-PCR) The polymorphisms of CYP1A1 MspI gene in genomic DNA of venous blood leukocytes from two groups were examined. The frequencies of alleles in CYP1A1 MspI and Hardy-Weinberg test were used to test the frequency of alleles and the MspI polymorphism of CYP1A1 Site genotype frequency. Results: The three fragments of 340, 200 and 140 bp were found after digestion of CYP1A1 MspI PCR products. The frequencies of alleles in CYP1A1 MspI and Hardy-Weinberg test showed that in the two groups of children, the hypospadias group and the control group m1, m2 two alleles distribution frequency, and m1m1, m1m2, m2m2 these three genotypes frequency comparison, the difference was not statistically significant (P> 0.05). CONCLUSION: The frequency of m1 and m2 alleles of CYP1A1 MspI gene and the three genotypes m1m1, m1m2 and m2m2 may not correlate with hypospadias.