【摘要】 目的:研究雌激素受体α(ERα)PvuⅡ、XbaⅠ位点多态性与壮族男性生育力的相关性。方法:选取96例男性不育患者为观察组,76例生育男性为对照组,分别进行精液常规分析,采用限制性内切酶酶切及DNA测序技术对ERαPvuⅡ、XbaⅠ位点进行基因分型。结果:经检测XbaⅠ位点等位基因和基因型频率分布在2组之间差异具有统计学意义(P<0.05)。进行遗传模型分析,Logistic回归校正年龄后发现ERα基因XbaⅠ在共显性(CC vs.TT)和隐性遗传模型下存在统计学关联(P<0.05),T等位基因携带者患不育的风险比C等位基因低;PvuⅡ等位基因及基因型与男性不育无相关性。结论:ERα基因XbaⅠ位点多态性可能与男性不育的发病风险存在相关性。更多还原

【Abstract】 Objective:To explore the association of single nucleotide polymorphism(SNP) of estrogen receptor α(ERα) gene with male infertility in Chinese Zhuang population. SNPs of PvuⅡ and XbaⅠ in ERα gene were checked as targets. Methods:A total of 96 infertile men were recruited as the observation group, and 76 fertile men as the control group. After routine semen analysis, the restricted enzyme digestion and DNA direct sequencing of PvuⅡ and XbaⅠ in ERα gene were performed. Results:The XbaⅠallele frequency and genotype distributions were significantly different between the control group and the observation group(all P<0.05). Genetic model analysis showed that the ERα gene Xba Ⅰ were significantly different between the two groups under codominant(CC vs. TT) and recessive genetic model(both P<0.05). Subjects carrying the T allele frequency of XbaⅠ had the decreased risk of infertility compared to the subjects carrying the G allele frequency. However, the SNPs of ERα gene Pvu Ⅱ did not show the correlation with male infertility. Conclusions:We concluded that in this study ERα XbaⅠ polymorphism was associated with male infertility.更多还原