男性Y染色体AZF微缺患者在不育症中的相关性研究

The correlation between emarginate azoospermia factor of male Y chromosome in patients with infertility

目的对不育男性患者的Y染色体长臂上的AZF区进行微缺失检测,研究Y染色体AZF区的微缺失与男性患者不育的相关性。方法运用多重聚合酶链反应(PCR)扩增-凝胶电泳方法对332例不育男性患者及100名有生育能力的男性健康对照者进行外周血Y染色体长臂AZF区域微缺失基因检测。结果 332例不育男性患者中检出28例AZF区不同程度微缺失,缺失率比例达8.4%。其中152例无精症男性不育患者中检出12例AZF区微缺失;180例少精症不育男性患者中检出16例AZF区微缺失。100名有生育能力的男性健康对照者均未发现AZF微缺失。结论 Y染色体长臂AZF区微缺失是男性原发性不育的重要致病因素。对不育男性患者进行Y染色体AZF区域进行微缺失检测有助于临床诊断不育症病因及降低男性不育患者通过辅助生殖技术进行受孕时将此缺陷遗传给其男性后代的风险。

Objective To detect the microdeletions of azoospermia factor（AZF） region of male infertility patients on the Y chromosome microdeletions and study correlation with infertility. Methods By multiplex polymerase chain reaction （PCR）-gel electrophoresis, 332 infertile male patients and 100 fertile male normal controls were tested by microdeletions detection for peripheral region of Y chromosome in AZF gene. Results Of 332 cases of infertile male patients, AZF microdeletion region was detected in 28 cases with varying degrees, with deletion rate ratio reaching 8.4%. Of 152 cases of male with infertility, azoospermia patients were detected in 12 cases with AZF microdeletion region; Of 180 cases with azoospermia in infertile male patients, 16 cases were detected with AZF microdeletion region. AZF microdeletions were not found in 100 cases of fertile men who were in normal controls. Conclusion Y chromosome microdeletions in AZF region is an important pathogenic primary cause of male infertility. Infertile male patients with AZF region of the Y chromosome microdeletions clinical diagnostic tests can help reduce the risk of infertility causes and avoid this genetic defect being transmitted to their male offspring of male infertility patients during pregnancy by assisted reproductive technology.