实时荧光定量PCR技术在男性不育患者Y染色体微缺失检查中的应用

Application of real-time PCR in Y chromosome microdeletions in male infertility

目的探索实时荧光定量PCR技术在检测男性不育患者Y染色体微缺失中应用的可行性。方法利用实时荧光定量PCR技术对2015年3-10月于我院就诊的443例男性不育患者的Y染色体长臂AZFa、AZFb、AZFc和AZFd 4个区域的8个位点进行检测,并用多重PCR方法对检测出的存在Y染色体微缺失的标本进行验证。结果共检测出3例男性不育患者发生Y染色体微缺,并通过多重PCR方法得到验证。3例Y染色体微缺病例均发生于非梗阻性无精症患者,其中2例为AZFc+d区缺失,1例为AZFb+c+d区缺失,占非梗阻性无精症的10.3%。结论实时荧光定量PCR技术可用于Y染色体微缺失的检测,且对筛查不育症患者具临床价值。

Objective To evaluate the feasibility of application of real-time PCR（RT-PCR） method in Y chromosome microdeletions in male infertility. Methods A total of 443 male infertility patients in our hospital from March to October in 2015 were recruited in this study. Eight sequence tagged sites（STS） in 4 regions（AZFa, AZFb, AZFc and AZFd） of Y chromosome were detected by RT-PCR. Moreover, samples with Y chromosome microdeletions were confirmed by multiplex PCR-electrophoresis. Results Three cases of Y chromosome microdeletions were identified and confirmed by RT-PCR. They had defections as following： 2 AZFc＋d and 1 AZFb＋c＋d, totally accounting for 10.3% of non-obstructive azoospermia cases. Conclusion Real-time PCR method allows a rapid and simple screening for Y chromosome microdeletions in male infertility, which is of clinical value for screening patients with infertility.