516例无精症Y染色体微缺失及细胞遗传学分析  

Analysis of Y chromosomal microdeletions and chromosome karyotype in 516 patients with azoospermia

作　　者：吴丽华[1] 胡晶晶[1] 梁凯玲 张忆聪[1] Wu Lihua;Hu Jingjing;Liang Kailing;Zhang Yicong(Medical Genetic Centre,Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2021年第1期43-46,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨Y染色体微缺失和细胞遗传学分析在无精症中的相关性。方法对2015年3月至2019年12月来广东省妇幼保健院就诊的诊断为无精症的患者进行外周血染色体G显带核型分析,运用多重定量荧光聚合酶链反应(quantitative fluorescent PCR,QF-PCR)技术检测Y染色体上的无精因子(azoospermia factor,AZF)。结果516例无精症患者中共检出染色体异常者66例,异常率12.8%;检出AZF缺失40例,总缺失率为7.8%;40例Y染色体微缺失中检出正常核型27例(67.5%,27/40)及异常核型13例(32.5%,13/40)。结论AZF微缺失的无精症患者大多核型正常,常规细胞遗传学不能直接反映AZF微缺失情况。联合运用2种检测方法有助于明确无精症患者遗传学病因,为临床辅助生殖技术提供理论依据。Objective To explore frequency and type of major chromosomal abnormalities including Y chromosome microdeletions in patients with azoospermia.Methods A total of 516 patients with azoospermia were enrolled from our hospital from March 2015 to December 2019.Chromosome karyotype analysis was performed on peripheral blood with G-banding.Y-chromosome azoospermia factor(AZF)was detected by quantitative fluorescent polymerase chain reaction(QF-PCR).Results There were 66 cases of abnormal chromosome karyotypes in 516 patients with azoospermia,with abnormal rates were12.8%.In addition,7.8%(40/516)presented with Y-chromosome AZF microdeletions,in which 27 cases patients with karyotype of 46,XY(67.5%,27/40)and 13 cases of chromosome abnormalities(32.5%,13/40).Conclusion The incidence of Y chromosome microdeletion was higher in the patients with karyotype of 46,XY.Conventional cytogenetics cannot directly reflect the microdeletions of Y chromosome.Therefore,the combination of these two detection methods can help to clarify the genetic causes of patients with azoospermia and provide a theoretical basis for clinical assisted reproductive technology.

关 键 词：无精症 染色体核型 Y染色体微缺失 

分 类 号：R394.2[医药卫生—医学遗传学]