蛋白C抑制剂基因G10877T多态性与男性不育的关系  

Association between polymorphism protein C inhibitor gene G10877T and male infertility

作　　者：陆培信[1] 张家颖[1] 武广恒[1] 

机构地区：[1]吉林大学基础医学院生物化学与分子生物学实验中心,吉林长春130021

出　　处：《吉林大学学报（医学版）》2009年第3期527-529,共3页Journal of Jilin University：Medicine Edition

基　　金：吉林省科技厅科技发展计划项目资助课题(200705361)

摘　　要：目的:探讨蛋白C抑制剂(PCI)基因G10877T多态性与男性不育的相关性,为不育症的治疗提供理论依据。方法:应用PCR和序列测定方法检测53例正常生育男性和102例不育男性的PCI基因G10877T多态性。结果:PCI基因存在野生型(G/G)、杂合突变型(G/T)和纯合突变型(T/T)3种基因型;测序分析显示,部分不育患者精子PCI基因G10877T位点的TGG突变为TGT,BLASTB比对表明该突变引起PCI基因编码区氨基酸变化,从而导致271位的色氨酸(Trp)突变为半胱氨酸(Cys)。不育组TT基因型频数和T等位基因频数与对照组比较差异有显著性(P<0.05)。结论:PCI基因G10877T位点多态性与男性不育的发生有关联,PCI基因多态性增加了男性不育的发病风险。Objective To investigate the association between polymorphism of protein C inhibitor （PCI） gene G10877T and male infertility, and provide theoretical basis for treatment of male infertility. Methods PCR and sequencing technique were applied to detect PCI gene G10877 T polymorphism in 53 normal control and 102 male infertility. Results There were three genotypes of wild type （G/C）, hybridization mutation （G/T） and pure mutation （T/T）. The analysis of sequencing indicated that in sperums of a proportion of the male infertile patients, TGG in PCI gene G10877T mutated into TGT. The contrast of BLASTB indicated that this mutation made Trp in 271 position change into Cys. Compared with control group, TT genotypic frequency and T allelic frequency in male infertility group had significant differences （P〈0.05）. Conclusion PCI gene G10877 T polymorphism is related to male infertility, and the polymorphism of PCI gene increases the risk of male infertility morbidity.

关 键 词：男性不育 蛋白C抑制剂 G10877T多态性 

分 类 号：R698.2[医药卫生—泌尿科学]