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

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？猜确路ㄌ崛？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 phenol？？chloroform 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