【摘 要】
：
目的 分析与多囊卵巢综合征(polycystic ovarian syndrome,PCOS)发病相关的THADA基因,为PCOS的早期预防奠定科学基础.方法 连续收集2018年4月 ～2019年10月在新疆医科大学第一
【机 构】
：
830054 乌鲁木齐,新疆医科大学第一附属医院
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目的 分析与多囊卵巢综合征(polycystic ovarian syndrome,PCOS)发病相关的THADA基因,为PCOS的早期预防奠定科学基础.方法 连续收集2018年4月 ～2019年10月在新疆医科大学第一附属医院妇科门诊做备孕检查的166例健康女性和同期同院的妇科门诊和生殖助孕中心的166例PCOS确诊患者全血,用iMLDR技术检测PCOS组与对照组女性的THADA基因的3个位点,通过Hardy-Weinberg遗传平衡定律分析检测的基因型有无代表性;用 χ2检验及单因素Logistic回归分析基因变异与PCOS以及其他PCOS相关临床指标的关联;采用SHEsis软件分析3个基因各位点间是否存在连锁不平衡以及单倍体型与PCOS风险的关联性.结果 两组基因型分布均符合遗传学平衡定律.经组间比较THADA基因rs12468394、rs13429458、rs7563201这3个位点与PCOS间均无关联(P>0.05),进一步分析临床指标与基因相关性,PCOS组中雌二醇(estrodiol,E2)在THADA基因rs12468394位点CC、AC、AA 3个基因型间差异有统计学意义(P<0.05).结论 THADA基因rs12468394、rs13429458、rs7563201位点的基因多态性与乌鲁木齐女性PCOS易感性无关,但rs12468394位点突变可能与PCOS患者激素水平紊乱相关.
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