少精学术文献

　　中国人原发无精与少精症Y染色体无精症因子区域微缺失的临床基因诊断研究

　　【摘要】　目的　建立中国人原发无精与少精症Y染色体无精症因子AZF区域微缺失临床基因诊断的方法并进行初步评价。

　　方法　

　　在完成中国人原发无精与少精症Y染色体无精症因子区域微缺失分子流行病学研究的基础上,采用盲法和多重聚合酶链反应2琼脂糖电泳检测技术,利用挑选的AZFa、AZFb、AZFc3个区域共8个序列标签位点(STS),对100例原发无精与80例少精症患者的精液进行微缺失分析。两组患者中各有27例和16例在事先分子流病的研究中已确认存在AZF微缺失。结果在原发无精症患者中检出STS位点缺失27例,原发少精患者中检出AZF区STS位点缺失16例,所有试验前被确认的AZF微缺失均被检出,未发现假阳性与假阴性结果,检测的灵敏度与特异性均为100%。

　　结论　

　　本研究所确定的AZF区域8个STS位点缺失与中国人原发无精和严重少精密切相关,利用上述STS位点与试验设计的多重聚合酶链反应技术进行微缺失分析,可以准确、方便、快速地完成中国人原发无精与少精症AZF区域微缺失的基因诊断,适于在临床实验室中推广应用。

　　【关键词】　基因;不育男性;Y染色体

　　Studies on clinic gene diagnosis of Y chromosome azoosper mia factor microdeletions in Chinese patients with idiopathic azoospermia or oligozoospermia
　
　　【Abstract】Objective To set up and evaluate gene diagnosis method of azoo spermia factor (AZF)microdeletion which is fitfor Chinese idiopat hic azoospermia or oligozoo spermia.Methods Base on there sults of molecular epidemic studies of Y chromosome AZF microdeletion in Chinese idiopat hic azoos permia or oligozoospermia, with 8 Tag Sequence Site (STS) primers blind method and multiplex PCR and agarose gelelec-trophoresis tests were performed to detect AZF microdeletion in 100 azoos permia and 80 oligozoospermia,which consist of patients with known microdeletions and without AZF microdeletion Results

　　microdeletions in azoo spermia and microdeletions in oligozoo s permia were found out,which is consistent with the confirmed results in advance.There is no false positive and false negative result in this study.The sensitivity and specificity of test is 100% respectively.Conclusion In AZF region the 8 STS loci microdeletions have an obvious association with Chinese idiopat hic azoos permia or oligozoospermia.The AZF microdeletion detection for Chinese patients can be carried out reliably,conveniently andquickly with these STS loci primers and method described in this article,which is easy to use in clinic laboratories.

　　【Keyword】Genes;Infertility male;Y chromosome