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目的研究男性无精子症、极少精子症患者的AZF区域微缺失的临床分布特征。方法应用细胞遗传学和多重聚合酶链反应技术,对100例特发性无精子症及极少精子症患者的AZF区域微缺失进行筛查。结果100例患者中,发生AZF区域微缺失的患者13例(13%)。其中无精子症组68例,AZF微缺失6例(7.35%);严重少精子症组32例,AZF微缺失7例(2.19%)。AZF微缺区c区和d区发生缺失率显著高于a区和b区。结论AZF微缺失和染色体异常是引起男性不孕的主要原因之一。
Objective To study the clinical distribution of AZF microdeletions in male patients with azoospermia and oligospermia. Methods The cytogenetics and multiplex polymerase chain reaction (PCR) technique were used to screen AZF microdeletions in 100 patients with idiopathic azoospermia and oligospermia. Results Of the 100 patients, 13 (13%) had microdeletions in the AZF region. Among them, there were 68 cases of azoospermia group, 6 cases of AZF microdeletion (7.35%), 32 cases of severe oligozoospermia group and 7 cases (2.19%) of AZF microdeletion. AZF fissure area c and d area deletion rate was significantly higher than a and b area. Conclusion AZF microdeletions and chromosomal abnormalities are one of the main causes of male infertility.