Y染色体无精子因子区域微缺失与男性不育的相关性研究  

Research of correlation between Y chromosome azoospermia factor region microdeletion and number of sperm and normal vitality of male patients with infertility

作　　者：周琦 刘瑜 邓宇傲 王玲 刘锦 宋丽杰 ZHOU Qi;LIU Yu;DENG Yu-ao;WANG Ling;LIU Jin;SONG Li-jie(Department of Family Planning,People＇s Hospital,Shenzhen City,Guangdong Province,China,Shenzhen,Guangdong 518020 China)

机构地区：[1]广东省深圳市人民医院计划生育科,广东深圳518020

出　　处：《中国优生与遗传杂志》2018年第7期116-119,共4页Chinese Journal of Birth Health & Heredity

基　　金：广东省省级科技计划项目(项目编号:2017A020215117)项目标题:基于心手综合征家系致病基因克隆及突变研究

摘　　要：目的探讨Y染色体无精子因子区域(AZF)微缺失与男性不育患者发病的关系。方法从2015年1月开始筛选患者,截止2017年8月,入选不育且精子数目、活力正常患者156例,不育且重度少精子症患者86例,不育且无精子症患者62例。提取研究对象的血液基因DNA后,采用聚合酶链反应、凝胶电泳进行Y染色体AZF微缺失分析并进行比较,并比较3组血清卵泡刺激素与抑制素B水平。结果 3组AZFa缺失、AZFb缺失、AZFc缺失发生率比较差异有统计学意义(P<0.05),不育且无精子组发生率显著高于其它两组(P<0.05)。3组gr/gr部分缺失、b2/b3部分缺失比较差异有统计学意义(P<0.05),从高到低依次为不育且无精子组>不育且重度少精子组>不育且精子数目、活力正常组。3组血清卵泡刺激素、抑制素B比较差异有统计学意义(P<0.05),抑制素B从低到高依次为不育且无精子组<不育且重度少精子组<不育且精子数目、活力正常组;卵泡刺激素从高到低依次为不育且无精子组>不育且重度少精子组>不育且精子数目、活力正常组。结论 Y染色体AZF微缺失会造成男性精子生成障碍,在无精子症或者重度少精子症男性不育患者中进行Y染色体AZF微缺失的检测对于临床进一步诊疗具有重要的指导意义。Objective：To probe into the relationship between Y chromosome azoospermia factor region（AZF）and number of sperm and normal vitality of male infertility patients. Methods：156 cases of patients with infertile but normal in number and motility of sperm and other 86 cases of infertility and severe oligozoospermia,and 62 cases of infertility and azoospermia and who screened from January,2015 to August,2017 were selected.Then,the blood gene DNA was extracted from the research subjects,and the Y chromosome AZF microdeletion were analyzed and compared by the Polymerase chain reaction and gel electrophoresis,and the levels of serum total testosterone and inhibin B were compared between the three groups. Results：There was significant difference in the incidence of AZFa deletion,AZFb deletion and AZFc deletion between the three groups（P〈0.05）.And the incidence of infertility and azoospermia group was significantly higher than that of the other two groups（P〈0.05）. There was significant difference in the partial deletion of gr/gr and the partial deletion of b2/b3 between the three groups（P〈0.05）. From high to low in turn were infertile and azoospermia groupinfertility and severe oligozoospermia groupinfertility and normal sperm number and activity group. was statistically significant in the comparison of serum follicle stimulating hormone and inhibin B between three groups（P〈0.05）. The inhibin B from low to high in turn were infertile and azoospermia grou Psterility and severe oligozoospermia grou Psterility and normal sperm number and vitality group. The follicle stimulating hormone from low to high in turn were infertile and azoospermia groupinfertility and severe oligozoospermia groupinfertility and the normal group of sperm number and vitality. Conclusion：The microdeletion of the Y chromosome AZF can causes the male spermatogenesis disorder,which it has important guiding significance for further clinical diagnosis and treatment in detection of AZF microdeletion on Y chromosome in patien

关 键 词：男性不育 Y染色体 无精子症 无精子因子区域微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]