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 琼脂糖电泳检测技术 ,利用挑选的AZFa、AZFb、AZFc 3个区域共 8个序列标签位点 (STS) ,对 10 0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 2 7例和 16例在事先分子流行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 2 7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 10 0 %。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 。
Objective To set up and evaluate gene diagnosis meth od of azoospermia factor (AZF) microdeletion which is fit for Chinese idiopathic azoospermia or oligozoospermia Methods Base on the results of molecular epidemic studies of Y chromosome AZF microdeletion in Chinese idiopathic azoospermia or oligozoospermia, with 8 Tag Sequence Site(STS) primers blind method and multiplex PCR and agarose gel elec trophoresis tests were performed to detect AZF microdeletion in 100 azoospermia and 80 oligozoospermia, which consist of patients with known microdeletions and without AZF microdeletion Results 27 microdeletions in azoospermia and 16 microdeletions in oligozoospermia 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 idiopathic azoospermia or oligozoospermia The AZF microdeletion detection for Chinese patients can be carried out reliably , conveniently and quickly with these STS loci primers and method described in this article, which is easy to use in clinic laboratories
出处
《中华检验医学杂志》
CAS
CSCD
北大核心
2003年第10期579-582,共4页
Chinese Journal of Laboratory Medicine
基金
四川省计划生育委员会基金课题 ( 2 0 0 1 49)
