严重少精子症及非梗阻性无精子症患者Y染色体微缺失分析

Analysis of Y chromosome microdeletions in infertile men patients with severe oligozoospermia or non-obstructive azoospermia

目的探讨严重少精子症及非梗阻性无精子症与Y染色体长臂微缺失之间的关系。方法该病例对照研究包括216例严重少精子症、189例非梗阻性无精子症患者及100例精液参数正常的对照。采用多重PCR对Y染色体AZFa、AZFb、AZFc及AZFd区域进行检测。结果在严重性少精子症患者中,AZF总缺失率为10.65%(23/216),其中以AZFc区缺失最常见,占缺失的78.26%(18/23);在非梗阻性无精子症患者中,AZF总缺失率为13.76%(26/189),其中也以AZFc区缺失最常见,占缺失的57.69%(15/26);在正常对照中发现1例AZFb缺失,两病例组AZF区缺失分别与对照组相比较均具有显著差异(χ2=9.066,P=0.003;χ2=10.74,P=0.001)。结论通过对Y染色体微缺失的检查可以从基因水平寻找生精障碍的原因以及为优生优育提供可靠的遗传信息依据。

Objective To explore the association between Y chromosome microdeletions and male infertile patients with severe oligozoospermia or non-obstructive azoospermia. Methods This case-control study included 216 cases with severe oligozoospermia, 189 cases with non-obstructive azoospermia and 100 controls with normal semen parameters. The multiple PCR was used to analyze the deletion of AZFa, AZFb, AZFc, and AZFd regions in the Y chromosome. Results In patients with severe oligozoospermia, the total deletion of the AZF was 10.65% （23/216）, and the AZFc region deletion was the most com- mon, which accounted for 78.26 % of the deletion （18/23）. In patients with non-obstructive azoospermia, the total deletion of the AZF was 13.76% （26/189）, and the AZFc region deletion was the most common, which accounted for 57.69% of the deletion （15/26）. One AZFb region deletion was found in the controls. The AZF deletions in the patients were significantly higher compared with the control group （X^2 =9. 066, P = 0. 003; X^2 = 10.74, P=0.001）. Conclusion Analysis of AZF microdeletions in the Y chromosome can find reasons for spermatogenic failure from the genetic level and provide reliable genetic information for prenatal and postnatal care.