贵州医科大学学报

2017, v.42;No.198(03) 318-321+331

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细胞色素P4501A1基因MspI多态性对贵州省尿道下裂患儿的易感性
Susceptibility of Cytochrome P4501A1 Gene MspI Polymorphism on Hypospadias Children in Guizhou

朱德才;王鹏飞;贺享军;熊杰;龚亚;孙金惠;陈友兰;田源;肖跃海;孙发;唐开发;
ZHU Decai;WANG Pengfei;HE Xiangjun;XIONG Jie;GONG Ya;SUN Jinhui;CHEN Youlan;TIAN Yuan;XIAO Yuehai;SUN Fa;TNANG Kaifa;Department of Urology,the First People's Hospital of Bijie;Department of Urology,Affiliated Hospital of Guizhou Medical University;Department of Urology,the Second Affiliated Hospital of Guizhou Medical University;

摘要(Abstract):

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 CYP1A1 gene MspI polymorphism on hypospadias children. Methods:38 sporadic patients( hypospadias group) and 38 normal healthy children( control group) of Guizhou origin were selected as research subject. Using the polymerase chain reaction( PCR) and restriction endonuclease( RFLP-PCR) technique to detect CYP1A1 MspI gene polymorphism in venous blood leukocytes DNA,alleles distribution frequency in CYP1A1 MspI and HardyWeinberg test. Analyzing alleles frequencies and CYP1A1 gene MspI polymorphism genotype frequencies of both groups. Results:The products of CYP1A1 MspI were divided into 340,200 and 140 BP fragments after enzyme digestion. CYP1A1 MspI alleles distribution frequencies and Hardy-Weinberg test indicated that m1 and m2,as well as 3 genotype frequencies of m1m1,m1m2 and m2m2in hypospadias group and control group showed no statistical significant( P > 0. 05). Conclusion:The distribution frequencies of CYP1A1 gene MspI and m_1m_1,m_1m_2,m_2m_2 might not share correlation with susceptible factors for hypospadias.

关键词(KeyWords): 尿道下裂;细胞色素P450;基因多态性;聚合酶链式反应;限制性内切酶技术
hypospadias;cytochrome P450;polymorphism;polymerase chain reaction;restriction enzyme technology

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金(81360097,81660263);; 贵州省毕节市科技局项目(2012-41-2)

作者(Authors): 朱德才;王鹏飞;贺享军;熊杰;龚亚;孙金惠;陈友兰;田源;肖跃海;孙发;唐开发;
ZHU Decai;WANG Pengfei;HE Xiangjun;XIONG Jie;GONG Ya;SUN Jinhui;CHEN Youlan;TIAN Yuan;XIAO Yuehai;SUN Fa;TNANG Kaifa;Department of Urology,the First People's Hospital of Bijie;Department of Urology,Affiliated Hospital of Guizhou Medical University;Department of Urology,the Second Affiliated Hospital of Guizhou Medical University;

DOI: 10.19367/j.cnki.1000-2707.2017.03.016

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