运用MLPA技术检测男性不孕患者Y染色体微缺失的临床应用  

Clinical application and research of MLPA technology to detect Y chromosome microdeletions

作　　者：杨帆[1] 林琳[1] 赵克温[2] Yang Fan Lin Lin Zhao Kewen(Department of Clinical Laboratory, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 200025 Shanghai, China Department of Pathophystology, Shanghai Jiaotong University School of Medicine, 200025 Shanghai, China)

机构地区：[1]上海交通大学医学院附属瑞金医院检验科,上海200025 [2]上海交通大学医学院病理生理教研室,上海200025

出　　处：《实用检验医师杂志》2017年第1期13-15,共3页Chinese Journal of Clinical Pathologist

摘　　要：目的调查男性不育患者中Y染色体微缺失的分布频率及缺失位点。方法选择2015年1月至2016年12月上海交通大学医学院附属瑞金医院妇产科生殖中心收治的110例男性不育患者,抽取外周静脉血DNA;运用多重链接依赖性探针扩增(MLPA)技术检测Y染色体微缺失情况,分析比较不同缺乏类型组Y染色体缺失率及缺失位点的差异。结果 110例男性不育患者中,有36例检出存在无精子因子(AZF)区不同程度微缺失,缺失率为32.7%;其中AZFc区缺失发生频率最高,占总缺失的75.0%(27/36);Y染色体微缺失患者无精、少精的发生率更高72.2%(26/36)。结论男性不育患者尤其是无精症/少精症患者Y染色体微缺失发生率较高,应在治疗前进行遗传检测及咨询。Objective To investigate Y chromosome microdeletions and their distribution characteristics among the male infertile patients. Methods 110 male infertility patients admitted to Reproductive Center of Obstetrics and Gynecology in Ruijin Hospital, Shanghai Jiaotong University School of Medicine from January 2015 to December 2016 were Selected . The DNA was extracted from peripheral venous blood. Y chromosome microdeletion was detected by Multiplex Ligation-dependent Probe Amplification （MLPA）. The frequency and site of Y chromosome microdeletions were compared between azoospermia and oligospermia patients. Results Y chromosome microdeletions were found in 36 cases （32.7%） in 110 infertile patients . Microdeletion of AZFc region was the most frequent it was 75.0% of all microdeletions （27/36）. The azoospermic and oligospermic incidence was higher in patients with Y chromosome microdeletions 72.2% （26/36）. Conclusion The occurrence of Y chromosome microdeletions is higher in azoospermic and oligospermic patients, it is necessary for them to have the genetic detection and the genetic counsel before performing treatments.

关 键 词：Y染色体微缺失 多重连接依赖性探针扩增技术 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]