Real-timePCR技术筛查男性不育患者的Y染色体微缺失

发布时间：2018-01-09 10:33

本文关键词：Real-timePCR技术筛查男性不育患者的Y染色体微缺失　出处：《重庆医科大学学报》2015年06期 　论文类型：期刊论文

【摘要】：目的:探讨real-time PCR技术检测Y染色体微缺失的适用性,并研究男性不育患者中无精症和少精症Y染色体微缺失的发生率。方法:本研究收集6例Y染色体微缺失阳性样本,4例女性样本和4例正常生育男性样本分别采用real-time PCR及多重PCR电泳法对Y染色体无精子因子(azoospermia factor,AZF)AZFa、AZFb、AZFc区进行检测;再收集452例临床男性不育患者的外周血样本,采用real-time PCR检测Y染色体微缺失位点。结果:2种方法对14例比对样本6个共有序列标签位点检测的结果一致;452例男性不育症包括96例少弱精症、9例重度少弱精症、69例无精症、3例畸精症和275例其他男性不育症,real-time PCR法共检出8例AZFc区缺失、1例AZFb区缺失和2例AZFbc共缺失,其中在少弱精症、重度少弱精症和无精症中Y染色体微缺失阳性率分别为5.21%、11.1%和7.25%,而另外2组均未检测到微缺失。结论:real-time PCR法检测Y染色体微缺失结果与经典的多重PCR电泳法结果相同,且该法的检测结果与临床诊断相符,因此real-time PCR适用于Y染色体微缺失的临床实验室筛查。
[Abstract]:Objective: to investigate the applicability of real-time PCR technique in detecting Y chromosome microdeletion. The incidence of Y chromosome microdeletion in azoospermia and oligozoospermia was studied. Methods: six cases of Y chromosome microdeletion positive samples were collected in this study. Real-time PCR and multiple PCR electrophoresis were used to detect Y chromosome azoospermia factors in 4 female samples and 4 normal fertile men. Azoospermia factor. AZFX AZFB AZFc region was detected. The peripheral blood samples of 452 male infertile patients were collected. Real-time PCR was used to detect Y chromosome microdeletion loci. 452 cases of male infertility included 96 cases of oligozoospermia 9 cases of severe oligozoospermia 69 cases of azoospermia 3 cases of teratospermia and 275 cases of other male infertility. 8 cases of AZFc region deletion were detected by real-time PCR method, 1 case with AZFb deletion and 2 cases with AZFbc co-deletion, including oligoasthenospermia. The positive rates of Y chromosome microdeletion in severe oligozoospermia and azoospermia were 5.21% and 7.25% respectively. No microdeletions were detected in the other two groups. Conclusion the results of detecting Y chromosome microdeletions by real-time PCR assay are the same as those by classical multiplex PCR electrophoresis. The results of this method are consistent with the clinical diagnosis, so real-time PCR is suitable for clinical laboratory screening of Y chromosome microdeletion.
【作者单位】：重庆医科大学附属第一医院临床分子医学检测中心;
【分类号】：R698.2
【正文快照】： 目前,全世界共有不育症患者约5 000~8 000万人,已婚孕龄夫妇中不孕不育症的发病率约为15%,其中男性不育约占50%[1]。由遗传缺陷引起的精子发育障碍约占男性不育的30%以上,其中Klinefelter综合征与Y染色体微缺失是最主要的遗传缺陷因素[2]。1976年Tiepolo和Zuffardi发现人类Y染

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