Ion Torrent PGM测序在87例无精子症Y染色体微缺失分析中的应用  

Ion Torrent PGM sequencing for detection of Y chromosome microdeletion in 87 cases of azoospermia

作　　者：宋春英 郝伟明 赵均 孟卫京 郭兴萍 李红霞 SONG Chun-ying;HAO Wei-ming;ZHAO Jun;MENG Wei-jing;GUO Xing-ping;LI Hong-xia(Human Sperm Bank,Shanxi Bethune Hospital,Shanxi Academy of Medical Sciences,Taiyuan,Shanxi 030032,China;Center of Reproductive Medicine,Shanxi Bethune Hospital,Shanxi Academy of Medical Sciences,Taiyuan,Shanxi 030032,China;Center of Genetics and Prenatal Diagnosis,Shanxi Bethune Hospital,Shanxi Academy of Medical Sciences,Taiyuan,Shanxi 030032,China)

机构地区：[1]山西白求恩医院/山西医学科学院人类精子库,山西太原030032 [2]山西白求恩医院/山西医学科学院生殖医学中心,山西太原030032 [3]山西白求恩医院/山西医学科学院遗传与产前诊断中心,山西太原030032

出　　处：《中华男科学杂志》2023年第2期144-150,共7页National Journal of Andrology

摘　　要：目的:探究Ion Torrent PGM测序技术在Y染色体微缺失检测中的可行性。方法:收集非梗阻性无精子症患者87例作为实验对象,全部完成精液常规、生殖激素和染色体核型分析。以多重PCR法作为对照,用Ion Torrent PGM测序技术检测Y染色体微缺失,比较两种方法的检出率。结果:PGM测序法检出率为49.4%,多重PCR法检出率为12.6%,Ion Torrent PGM的检出率明显高于多重PCR,Ion Torrent PGM检出的AZF缺失患者包含全部多重PCR检出患者,且缺失位点完全一致。同时,在87例男性不育患者中,Ion Torrent PGM检出24例,共14种男性不育相关基因突变,总阳性率为27.59%。结论:对无精子症患者,采用Ion Torrent PGM测序检测AZF缺失,可明显提高检出率;同时PGM测序法可以检出更多的男性不育相关基因突变位点,为无精子症的诊断提供帮助。Objective:To explore the feasibility of Ion Torrent PGM sequencing in detection of Y chromosome microdeletion.Methods:We enrolled 87 infertility patients with non-obstructive azoospermia(NOA)in this study and analyzed their routine semen parameters,reproductive hormone levels and chromosomal karyotypes.We detected Y chromosome microdeletion in the patients by Ion Torrent PGM sequencing and multiplex PCR,and compared the detection rates between the two methods.Results:Ion Torrent PGM sequencing achieved a significantly higher detection rate of Y chromosome microdeletion than multiplex PCR(49.4%us 12.6%,P<0.05).The cases of AZF deletion detected by Ion Torrent PCM sequencing included all those detected by multiplex PCR,and the deletion sites were completely consistent.In addition,14 male infertility-related gene mutations were detected in 24 of the 87 patients,with a total positive rate of 27.59%C.Conclusion:Ion Torrent PCM sequencing can significantly improve the detection rate of Y chromosome microdeletion in infertility patients with NOA,detect a variety of male infertility-related gene mutations,and therefore contribute to the diagnosis of azoospermia.

关 键 词：Ion Torrent PGM Y染色体微缺失 AZF STS 

分 类 号：R698.2[医药卫生—泌尿科学]