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;

• 1:毕节市第一人民医院泌尿外科
• 2:贵州医科大学附院
• 3:贵州医科大学第二附属医院泌尿外科

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

参考文献(References)：

• [1]Barcat,Stephan JC.Clinical and therapeutic study.Apropos of 140 new cases[J].In Journal de Chirurgie,1961(10):551-580.
• [2]Bergman JE,Loane M,Vrijheid M,et al.Epidemiology of hypospadias in Europe:a registry-based study[J].World J Urol,2015(12):2159-2167.
• [3]吴艳乔,代礼,王艳萍,等.中国儿童尿道下裂发生率的变化趋势[J].四川大学学报(医学版),2005(2):274-276.
• [4]宋益挺,唐开发,孙平,等.ERα基因外显子1编码子10 SNP与尿道下裂及隐睾相关性分析[J].中国男科学杂志,2010(3):12-16.
• [5]Tang KF,Zheng JZ,Xing JP.Molecular analysis of SNP12 in estrogen receptorαgene in hypospadiac or cryptorchid patients from northwestern china[J].Urologia Internationalis,2011(3):359-362.
• [6]Bouty A,Ayers KL,Pask A.et al.The genetic and environmental factors underlying hypospadias[J].Sex Dev,2015(5):239-259.
• [7]Palrasu M,Nagini S.Cytochrome P450 structure,function and clinical significance:a review[J].Curr Drug Targets,2017(1):17-24.
• [8]王瑞芳,董治亚,王伟,等.52例尿道下裂患者5α-还原酶2型基因突变研究[J].中国实用儿科杂志,2012(9):693-696.
• [9]唐华建,袁继炎.尿道下裂与Ⅱ型3β羟类固醇脱氢酶基因突变的研究[J].临床小儿外科杂志,2002(4):282-285.
• [10]刘乐,杨屹,王常林.FGFR2单核苷酸多态性rs2981582位点(C/T)与尿道下裂的相关性研究[J].中华小儿外科杂志,2011(3):202-205.
• [11]Maimoun L,Philibert P,Cammas B.et al.Phenotypical,biological and molecular heterogeneity of 5alpha-reductase deficiency:an extensive international experience of55 patients[J].J Clin Endocrinol Metab,2011(2):296-307.
• [12]Watanabe M,Yoshida R,Ueoka K,et al.Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities[J].Hum Reprod,2007(5):1279-1284.
• [13]Takahashi T,Shimotakahara A,Miyahara K,et al.Activating transcription factor 3 is not up-regulated in hypospadias patients in Japan[J].Afr J Paediatr Surg,2013(4):371-373.
• [14]Shehata BM,Elmore JM,Bootwala Y,et al.Immunohistochemical characterization of sonic hedgehog and its downstream signaling molecules during human penile development[J].Fetal Pediatr Pathol,2011(4):244-251.
• [15]Kurahashi N,Sata F,Kasai S,et al.Maternal genetic polymorphisms in CYP1A1,GSTM1 and GSTT1 and the risk of hypospadias[J].Mol Hum Reprod,2005(2):93-98.
• [16]Shekharyadav C,Bajpai M,Kumar V,et al.Polymorphism in CYP1A1,GSTMI,GSTT1 genes and organochlorine pesticides in the etiology of hypospadias[J].Hum Exp Toxicol,2011(10):146414-146474.

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