男性不育患者Y染色体AZF基因微缺失检测

Screening for microdeletions of AZF gene on Y chromosome in infertile men

目的探讨原发性无精子症、严重少精子症及少精子症患者与Y染色体无精子因子(azoospermia factor,AZF)区微缺失的关系。方法采用多重PCR方法对对照组192例已正常生育男性和实验组448例男性不育患者进行AZF区域内的15个序列标签位点(STS)的检测。结果对照组未发现AZF基因微缺失,实验组448例患者检测出五种AZF微缺失类型共41例,总缺失率为9.2%(41/448),其中无精子症、严重少精子症和少精子症患者的缺失率分别为12.0%(19/158)、10.8%(17/157)、3.8%(5/133),无精子症和严重少精子症患者Y染色体AZF微缺失率明显高于少精子症组,差别有统计学意义(P<0.05)。使用15个STS位点进行检测其检出率较利用欧洲男科学会(European Academy of Andrology,EAA)推荐的6个STS位点提高约14%(5/36)。结论AZF微缺失是引起原发性无精子症、严重少精子症和少精子症的重要原因之一;增加STS位点检测数有利于提高AZF微缺失的检出率。

Objective：To investigate the association among idiopathic azoospermia,severe oligospermia or oligospermia in infertility men and microdeletion of azoospermia factor （AZF） gene on the Y chromosome.Methods：Multiplex-PCR technique was used to detect microdeletions of AZF gene in 448 infertile men and 192 normal male controls with fifteen sequence-tagged sites （STSs）.Results：There were no microdeletions in 192 normal male controls but 41 microdeletions in 448 infertile men.The rates of microdeletion were 9.2% （41/448） in all,and were 12.0% （19/158）,10.8% （17 /157） and 3.8% （5/133） in azoospermia,severe oligozoospermia and oligozoospermia respectively.The rates of AZF microdeletion in azoospermia and severe oligozoospermia were significant higher than that of the oligozoospermia.Compared with the six STS locis method recommended by European Academy of Andrology （EAA）,14 % more deletions were detected based on fifteen STS locis in the AZF region.Conclusion：Microdeletion of AZF gene on Y chromosome is one of the major risks leading to idiopathic azoospermia,severe oligospermia or oligospermia.Increasing the number of sequence-tagged sites used for screening can improve the detection rates of Y chromosome AZF microdeletion.