毛细管技术筛查AZF微缺失方法的建立及临床验证  

Establishment of a screening method for AZF microdeletions by capillary technology and a clinical trial

作　　者：何天文[1] 赵辉[1] 赵馨[1] 卢建[1] 郑毅春[1] 张畅斌[1] 尹爱华[1] 

机构地区：[1]广东省妇幼保健院医学遗传中心、广东省妇幼代谢与遗传病重点实验室、广东省妇幼保健院生殖中心,广州511442

出　　处：《中华医学遗传学杂志》2016年第4期550-554,共5页Chinese Journal of Medical Genetics

基　　金：广东省科技计划（20108031600120）

摘　　要：目的应用毛细管技术建立一种准确、快速和简便的Y染色体AZF微缺失筛查方法，并将其应用于临床检测。方法用FAM、JOE和TAMRA荧光基团标记PCR引物，进行多重定量荧光PCR，建立毛细管技术筛查Y染色体AZF微缺失的方法，并对725例非梗阻性无精症、严重少精症或轻度少弱精症的男性不育患者进行AZF微缺失筛查。结果成功建立了毛细管技术筛查AZF微缺失方法。在725例非梗阻性无精症、严重少精症或轻度少弱精症男性不育患者中，共检出38例AZF微缺失，总缺失率为5．24％，其中无精症组缺失率为8．62％（15／174），严重少精症组缺失率为6．75％（16／237），轻度少弱精症组缺失率为2．23％（7／314）。结论所建立的毛细管技术筛查Y染色体AZF微缺失方法具有准确、快速和简便优点，具有重要的临床应用价值。Objective To establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing. Methods For each pair of primers, the 5＇end of either forward or reverse primer was labeled with a FAM, JOE or TAMRA fluorescence dyes to establish multiplex quantitative fluorescence PCR systems for the establishment of a screening method of Y chromosome AZF microdeletions by capillary technology. The detection of Y chromosome AZF microdeletion were carried out on 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia. Results A screening method for Y chromosome AZF microdeletions using capillary technology was established. Thirty eight cases of AZF microdeletions were found among 725 cases of non- obstructive azoospermia, oligospermia or asthenospermia, which gave a deletion rate of 5. 24%. Y chromosomal microdeletions were found in 8.62% of the azoospermia group, 6.75% of the oligzoospermic group, and 2.23% of the asthenospermia group. Conclusion An accurate, fast and simple screening method of Y chromosome AZF microdeletions by capillary technology has been established, which may have an important clinical value.

关 键 词：Y染色体 无精子症因子 多重定量荧光PCR 

分 类 号：R698.2[医药卫生—泌尿科学]