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目的筛查某市男性不育患者Y染色体无精子因子(AZF)区域微缺失情况,探讨AZF基因微缺失与原发无精、严重少精症之间的关系。方法采用多重聚合酶链反应(PCR)技术,对某市118例原发无精子症、84例原发严重少精症患者及66例正常生育男性进行Y染色体AZF基因家族AZFa、AZFb、AZFc三个区域微缺失分析。结果 66例正常生育男性未发现Y染色体AZF区域微缺失,202例生精障碍患者中发现AZF微缺失25例,总缺失率为12.4%。其中12例无精症患者和5例少精症患者的缺失发生在AZFc区域,缺失率为8.4%;1例无精症患者和2例少精症患者发生AZFb、AZFc双重缺失,缺失率为1.5%;1例无精症患者发生AZFa、b、c三个区域同时微缺失,缺失率0.5%。生精障碍组与正常生育男性组比较Y染色体AZF区域微缺失率差异具有显著性(P<0.001)。结论 Y染色体AZF区域微缺失是引起男性无精、少精子症的重要原因之一,对原发无精、少精子症患者在单精子注射(ICSI)之前进行微缺失筛查是必要的。
Objective To screen the microdeletion of Y chromosome Azoospermia (AZF) in male infertility in a city and investigate the relationship between AZF microdeletion and primary azoospermia and severe oligozoospermia. Methods Multiplex polymerase chain reaction (PCR) was performed on 118 cases of primary azoospermia, 84 cases of primary severe oligozoospermia and 66 cases of normal fertility in a city. AZFa, AZFb, AZFc, A regional micro-missing analysis. Results There was no microdeletion of AZF on Y chromosome in 66 normal fertile men. Twenty - five cases of AZF microdeletions were found in 202 cases of sterility disorder, with a total loss rate of 12.4%. Among them, 12 cases of azoospermia and 5 cases of oligozoospermia occurred in the AZFc region, with a deletion rate of 8.4%. One case of azoospermia and two cases of oligozoospermia had double deletion of AZFb and AZFc, the deletion rate was 1.5%. One patient with azoospermia also had microdeletions of AZFa, b and c in three regions with a deletion rate of 0.5%. There was a significant difference (P <0.001) in the rate of microdeletions in the AZF region of the Y chromosome between the students with STZ and those with normal fertility. Conclusion The microdeletion of AZF in Y chromosome is one of the important causes of azoospermia and oligospermia in males. It is necessary to screen microdeletions before spermicroscopy (ICSI) in patients with primary azoospermia and oligospermia.