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

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.