Zhu X-B, Gong Y-H, He J, Guo A-L, Zhi E-L, Yao J-E, Zhu B-S, Zhang A-J, Li Z
Department of Andrology & PFD, Center for Men's Health, Department of ART, Institute of Urology, Urologic Medical Center Shanghai General Hospital, Shanghai Key Laboratory of Reproductive Medicine, Shanghai Jiao Tong University, Shanghai, China.
Center of Reproductive Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Andrologia. 2017 Jun;49(5). doi: 10.1111/and.12662. Epub 2016 Nov 10.
Azoospermia factor (AZF) genes on the long arm of the human Y chromosome are involved in spermatogenesis, and microdeletions in the AZF region have been recognised to be the second major genetic cause of spermatogenetic failure resulting in male infertility. While screening for these microdeletions can avoid unnecessary medical and surgical treatments, current methods are generally time-consuming. Therefore, we established a new method to detect and analyse microdeletions in the AZF region quickly, safely and efficiently. In total, 1,808 patients with spermatogenetic failure were recruited from three hospitals in southern China, of which 600 patients were randomly selected for screening for Y chromosome microdeletions in AZF regions employing real-time polymerase chain reaction with a TaqMan probe. In our study, of 1,808 infertile patients, 150 (8.3%) were found to bear microdeletions in the Y chromosome using multiplex PCR, while no deletions were found in the controls. Among the AZF deletions detected, two were in AZFa, three in AZFb, 35 in AZFc, three in AZFb+c and two in AZFa+b+c. Our method is fast-it permits the scanning of DNA from a patient in one and a half hours-and reliable, minimising the risk of cross-contamination and false-positive and false-negative results.
人类Y染色体长臂上的无精子症因子（AZF）基因参与精子发生，AZF区域的微缺失已被认为是导致男性不育的精子发生失败的第二大主要遗传原因。虽然筛查这些微缺失可以避免不必要的药物和手术治疗，但目前的方法通常很耗时。因此，我们建立了一种新方法，能够快速、安全且高效地检测和分析AZF区域的微缺失。总共从中国南方的三家医院招募了1808例精子发生失败的患者，其中随机选择600例患者，采用TaqMan探针实时聚合酶链反应筛查AZF区域的Y染色体微缺失。在我们的研究中，1808例不育患者中，使用多重PCR发现150例（8.3%）Y染色体存在微缺失，而对照组未发现缺失。在检测到的AZF缺失中，2例在AZFa，3例在AZFb，35例在AZFc，3例在AZFb + c，2例在AZFa + b + c。我们的方法速度快——能在一个半小时内扫描患者的DNA——且可靠，将交叉污染以及假阳性和假阴性结果的风险降至最低。
