河南汉族男性原发性不育与SHBG基因启动子(TAAAA)n多态性的关联性  

Association of( TAAAA) n polymorphism in SHBG gene promoter with idiopathic male infertility in Henan Han population

作　　者：温胜兰 谢诗[1] 王志伟[1] 何诺 李兴武[3] 陈辉[4] 

机构地区：[1]郑州大学临床医学系,郑州450052 [2]郑州市中心医院检验科,郑州450007 [3]郑州大学第一附属医院检验科,郑州450052 [4]郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州450001

出　　处：《郑州大学学报（医学版）》2016年第1期85-88,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：郑州大学大学生创新实验资助项目2013xjxm097

摘　　要：目的：探讨河南汉族男性原发性不育与性激素结合球蛋白（SHBG）基因启动子（TAAAA）n多态性的关联性。方法：分别收集288例河南汉族男性原发性不育患者和259例正常男性的精液或血液,酚-氯仿法提取DNA,PCR扩增目的片段,检测Y染色体微缺失,对无缺失个体进行变性聚丙烯酰胺凝胶电泳、银染及生物测序分析SHBG基因启动子（TAAAA）n等位基因和基因型。结果：病例组Y染色体微缺失率为12.15%（35/288）,对照组未检出。检测到（TAAAA）五核苷酸5~10次重复、6个等位基因及20种基因型。病例组与对照组（TAAAA）n多态性构成比较,差异有统计学意义（P〈0.001）。其中,n=5、6、7、10时,2组间比较差异无统计学意义（P均〉0.008）;n=8为保护因素（P=0.002）,n=9为危险因素（P〈0.001）;n≥9时增加了原发性不育的风险（P〈0.001）。结论：河南汉族男性原发性不育与SHBG基因启动子（TAAAA）n多态性可能有一定关联性。Aim： To investigate the association of the（ TAAAA） n polymorphism in the sex hormone-binding globulin（ SHBG） gene promoter with idiopathic male infertility in Henan Han population. Methods： Semen samples of 288 men with idiopathic infertility and blood samples of 259 normal controls were collected. Genomic DNA was extracted by phenolchloroform method and target fragment was amplified by PCR. The Y-chromosome microdeletion was examined in all samples. The gene polymorphism was obtained by PAGE,silver staining method,and biological sequencing in the group without Y-chromosome microdeletion. Results： Y-chromosome microdeletion were detected in 12. 15%（ 35 /288） infertile men,while not found in controls. Six alleles containing（ TAAAA） 5- 10 repeats and 20 genotypes were presented in the subjects. The constituent ratio of（ TAAAA） n polymorphism between the cases and controls was different（ P〈0. 001）. When n = 5,6,7,10,there was no significant difference（ P〉0. 008）. n = 8 was a protective factor（ P = 0. 002）,and n = 9 was a dangerous factor（ P〈0. 001）. n≥9 increased risk of infertility（ P〈0. 001）. Conclusion： There may be some correlation between the（ TAAAA） n polymorphism in the SHBG gene promoter with idiopathic male infertility.

关 键 词：性激素结合球蛋白 (TAAAA)n多态性 男性原发性不育 河南汉族 

分 类 号：R394.3[医药卫生—医学遗传学]