特发性无精子症和严重少精子症患者无精子因子的检测及其意义

The clinical significance of azoospermia factor detection for the patients with idiopathic azoospermia and severe oligozoospermia

目的:探讨引起特发性无精子和严重少精子造成男性不育的遗传学原因和检测无精子因子(AZF)的临床意义。方法:对50例特发性男性不育患者(不育组)和50例正常生育者(对照组)的外周血标本,提取基因组DNA,通过多重聚合酶链反应检测Y染色体AZF微缺失。结果:对照组均可见SRY、SY84、SY86、YRRM1(RBM1)和SY254(DAZ)扩增带。不育组6 例(无精子症4 例,严重少精子症2 例)可见SRY扩增带,但未见SY254扩增带,其中2例同时未见YRRM1 扩增带;1 例仅未见YRRM1 扩增带。结论:Y染色体AZF 微缺失是引起无精子和严重少精子并造成男性不育的重要原因之一;AZF微缺失检测对男性不育症患者进行遗传学诊断与筛查有一定意义。

Objective:To discuss genetic causes of idiopathic azoospermia and severe oligozoospermia leading to male infertility and the clinical significance of the AZF region detection.Methods:Y chromosome microdeletion test was performed by multiplex PCR, with genomic DNA being isolated from peripheral blood samples of the fifty infertile(Infertily group) and fifty fertile(Control group) Chinese men.Results:In control group, amplified products of SRY、SY84、SY86、YRRM 1(RBM 1) and SY254 were expressed under each photograph.The microdeletion of AZF region was not found. Among infertily group, six patients were DAZ microdeletion, including 4 patients with azoospermia and 2 patients with severe oligozoospermia. Two of six patients developed RBM microdeletion simultaneously, including 1 patient with azoospermia and 1 patient with severe oligozoospermia. One patient with azoospermia only had RBM microdeletion.Conclusions:AZF microdeletion is a major cause of azoospermia and severe oligozoospermia leading to male infertility. Therefore, detection of AZF Factor may play an important role in the study of male infertility.