男性不育患者Y染色体AZF区微缺失临床研究.docVIP

男性不育患者Y染色体AZF区微缺失临床研究 　　[摘要] 目的 探讨男性不育患者Y染色体微缺失检测的临床意义。 方法 应用PCR多重技术对293例无精子和严重少弱精子的不育患者（非梗阻性无精子症159例、严重少弱精子症134例）Y染色体上AZFa、AZFb和AZFc 3个区域进行微缺失检测。 结果 在293例患者中，共检出31例患者AZF区域微缺失，缺失率为10.58%；其中，非梗阻性无精症23例，严重少弱精症8例。上述患者中，4例位于AZFb区，5例位于AZFb+AZFc区，20例位于AZFc区，2例被检出AZFc+AZFb+AZFa区域三重缺失。 结论 Y染色体AZF区微缺失是引起男性不育的重要原因之一，无精子症和严重少弱精子症不育患者有必要进行Y染色体微缺失检查，便于早期诊断和治疗。 　　[关键词] Y染色体；AZF微缺失；男性不育；无精子症；弱精子症 　　[中图分类号] R698.2 [文献标识码] A [文章编号] 1673-9701（2017）34-0007-03 　　Clinical study on microdeletion of AZF regions of Y chromosome in male infertile patients 　　CHEN Junfeng1，2 YIN Weiqi2 WANG Kaiyun1，2 MA Chao3 WANG Li3 MA Qi1，2 　　1.Translational Research Laboratory for Urology， Ningbo Key Laboratory， Ningbo First Hospital， Ningbo 315010， China； 2.Department of Urology， Ningbo First Hospital， Ningbo 315010， China； 3.Andrology Laboratory， Ningbo First Hospital， Ningbo 315010， China 　　[Abstract] Objective To investigate the clinical significance of Y chromosome microdeletion in male infertile patients. Methods PCR multiple technique was applied to perform microdeletion detection in the three regions of AZFa， AZFb and AZFc on the Y chromosome in a total of 293 infertile patients with azoospermia and oligoasthenospermatism（non-obstructive azoospermia in 159 cases and severe oligoasthenospermatism in 134 cases）. Results Among 293 patients， a total of 31 patients had microdeletion of AZF region， with the deletion rate of 10.58%； among them， non-obstructive azoospermia was in 23 cases， and severe oligospermia was in 8 cases. Of the above patients， 4 patients were located in the AZFb region， 5 were located in AZFb+AZFc region， and 20 were located in AZFc region. AZFc+AZFb+AZFa region triple deletion was detected in 2 cases. Conclusion The microdeletion of Y chromosome in AZF region is one of the important causes of male infertility. For the infertile patients with azoospermia and severe oligoasthenospermatism， there was a need to carry out Y chromosome microdeletion examination， which is easy t