无精子症和严重少精子症患者Y染色体微缺失研究

目的：研究Y染色体微缺失与男性不育的关系。方法：采用多重PCR技术,研究正常男性、无精子症和严重少精子症男性不育患者Y染色体无精子因子（AZF）区域3个序列标志位点（STS）的缺失情况。结果：在93例无精子症或严重少精子症患者中,15例有Y染色体微缺失,缺失率为16%。其中,42例无精子症患者中,6例为AZFc区SY255位点缺失,2例为AZFb区SY134位点缺失;51例严重少精子症患者中,7例为AZFc区SY255位点缺失。40例正常男性无Y染色体微缺失。结论：多重PCR技术是简便而有效的对男性不育患者进行Y染色体微缺失筛查的方法;Y染色体微缺失是造成男性不育的一个重要原因,对男性不育患者进行辅助生育技术治疗前应常规进行Y染色体微缺失的检测。

Investigation of Y Chromosome Microdeletion in Patients with Azoospermia and Se-vere Oligozoospermia

Objective：To investigate the correlation between Y chromosome microdeletions and male infertility.Methods：Three Y-specific sequence-tagged sites in azoospermia factor（AZF） region were detected by means of multiplex PCR in normal,azoospermia and severe oligozoospermia males respectively.Results：15 out of the 93 patients（16%） showed microdeletions in Y chromosome.Among 42 azoospermia,6 showed deletion of AZFc-SY255 site and 2 showed deletion of AZFb-SY134 site.Among 51 severe oligozoospermia,7 showed deletion of AZFc-SY255 site.No deletion was found in 40 fertile men.Conclusions：Multiplex PCR is an simple and effective method in screening Y chromosome microdeletion among male infertility.Y chromosome microdeletion is an important cause of male infertility.It is necessary to detect Y chromosome microdeletion before assisted reproductive technology to infertile men.