Liu X G, Hu H Y, Guo Y H, Sun Y P
Reproductive Medical Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Department of Ultrasound, The Third Affiliated Hospital of Nanyang Medical College, Nanyang, China.
Genet Mol Res. 2016 Jun 3;15(2):gmr8426. doi: 10.4238/gmr.15028426.
Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility, we evaluated AZF microdeletion on the long arm of the Y chromosome in 166 infertile males and 50 fertile males using multiplex polymerase chain reactions amplification and gel electrophoresis. The results demonstrated that 28 individuals had varying degrees of microdeletion in the AZF region (16.90%); 12 out of the 76 males with azoospermia and 16 out of the 90 males with oligospermia had AZF microdeletion. AZF microdeletion was not observed in any of the healthy controls. In addition, 53.60% of the AZF microdeletions occurred in the AZFc region. It can be concluded that AZF microdeletion on the long arm of the Y chromosome can result in male spermatogenesis dysfunction. Detection of AZF microdeletion can provide a theoretical basis for genetic counseling, as well as improve the diagnosis and treatment of this disease.
遗传因素导致的精子异常是男性不育的主要原因。为了探究Y染色体无精子症因子（AZF）微缺失与男性不育之间的相关性，我们采用多重聚合酶链反应扩增和凝胶电泳技术，对166例不育男性和50例有生育能力的男性的Y染色体长臂上的AZF微缺失情况进行了评估。结果显示，28例个体在AZF区域存在不同程度的微缺失（16.90%）；76例无精子症男性中有12例、90例少精子症男性中有16例存在AZF微缺失。在任何健康对照中均未观察到AZF微缺失。此外，53.60%的AZF微缺失发生在AZFc区域。可以得出结论，Y染色体长臂上的AZF微缺失可导致男性精子发生功能障碍。检测AZF微缺失可为遗传咨询提供理论依据，并改善该疾病的诊断和治疗。
