2023年2月第30卷第2期1338例男性无精症或少精症患者Y染色体微缺失分析于海洋1，杨静静2，曾昭书3*（1郑州大学第三附属医院检验科，河南郑州450052；2郑州大学第三附属医院生殖中心，河南郑州450052；3郑州大学基础医学院，河南郑州450001）【摘要】目的探讨男性无精症或少精症患者的Y染色体微缺失情况。方法1338例男性不育患者按照精液常规检查结果分为无精症组、严重少精症组、少精症组，选取同期320例健康男性为正常对照组，应用荧光定量PCR技术进行AZF区微缺失分析。结果无精症组和严重少精症组的Y染色体微缺失发生率均显著高于正常对照组（P＜0．05）。在入组的研究对象中，AZFc位点缺失在男性不育中占比最高，为4．9％。在118例Y染色体微缺失患者中，共有25例染色体核型异常，其中以47,XXY核型占比最高，为8．5％。结论Y染色体微缺失检测是男性少精症或无精症等的首选临床检测项目，对男性不育的诊断有重要的指导价值。【关键词】无精症；少精症；Y染色体微缺失；不育中图分类号：R698+.2文献标识码：Adoi:10.3969/j.issn.1674-4659.2023.02.0283AnalysisofYChromosomeMicrodeletionsin1338MalePatientswithAzoospermiaorOligozoospermia//YUHaiyang1,YANGJingjing2,ZENGZhaoshu3*(1ClinicalLaboratory,theThirdAffiliatedHospitalofZhengzhouUniversity,Zhengzhou450052,China;2ReproductiveCenter,theThirdAffiliatedHospitalofZhengzhouUniversity,Zhengzhou450052,China;3BasicMedicalCol-lege,ZhengzhouUniversity,Zhengzhou450001,China;*Correspondingauthor:ZENGZhaoshu,E-mail:zzs@zzu.edu.cn)[Abstract]ObjectiveToexploretheYchromosomemicrodeletioninmalepatientswithazoospermiaoroligozoospermia.MethodsAtotalof1338malepatientswithinfertileweredividedintoazoospermiagroup,severeoligozoospermiagroupandoligozoospermiagroupaccordingtotheresultsofsemenroutineexamination,and320healthymenwereselectedasnormalcontrolgroup.AZFzonemicrodeletionanalysiswasperformedbyfluorescencequantitativePCR.ResultsTheincidenceofYchromosomemicrodeletioninnormalcontrolgroupwaslowerthanthatinazoospermiagroupandsevereoligozoospermiagroup(P<0.05).Amongthesubjectsenrolled,theAZFclocusdeletionaccountedforthehighestproportion(4.9%)ofmaleinfertility.Among118patientswithYchromosomemicrodeletion,25caseshadch...
