精索静脉曲张男性不育患者Y染色体微缺失检测

目的:探讨精索静脉曲张(varicocele,VC)不育患者Y染色体微缺失特点及其与临床表型的关系,为评价VC不育患者是否行手术治疗或ICSI提供依据。方法:VC不育患者174例,分为3组,A组:无精子症47例;B组:严重少精子症57例;C组:轻度少精子症70例;设立正常生育的健康志愿者男性28例作为对照组(D组)。抽取外周血提取DNA,选取Y染色体上AZFa、AZFb、AZFc区共6个序列标签位点,应用多重PCR进行扩增;已生育女性26例作为阴性对照,分别运用琼脂糖凝胶电泳分离,对照阅读扩增产物,判定有无缺失存在以及缺失类型。结果:174例男性不育患者中有22例检测到Y染色体微缺失,缺失率12.64%;A组11例存在微缺失,B组11例存在微缺失,C组未检测到微缺失。A组与C组、B组与C组比较,差异均有显著性。A组缺失病例中有6例为AZFc区缺失,1例为AZFa缺失,2例为AZFb区缺失,2例为AZFb、AZFc区共同缺失;B组缺失病例中有8例为AZFc缺失,2例为AZFb缺失,1例为AZFb、AZFc区共同缺失。结论:①精液异常VC不育与Y染色体微缺失有关;②VC不育患者特别是无精子症和严重少精子症患者,应该进行Y染色体微缺失的检测。

Screening of Y chromosome microdeletions in infertile males with varicocele

Objective: To investigate the relationship between Y chromosome microdeletions and human spermatogenesis in infertile men with varicocele(VC).Methods: We divided 174 infertile VC patients into groups A(with azoospermia,n = 47),B(with severe oligozoospermia,n =57) and C(with mild oligozoospermia,n = 70),and enlisted 28 fertile males and 26 fertile females as normal controls.We collected DNA from the peripheral blood,amplified 6 sequence tagged sites in AZFa,AZFb and AZFc using multiplex PCR technique.Then we separated and scanned the amplified products by agarose gel electrophoresis to identify microdeletions and their types in comparison with the controls.Results: Y chromosome microdeletions were observed in 12.64% of the patients(22/174),11 cases in group A and the other 11 in group B,but none in group C and the normal controls.The differences were statistically significant(P<0.05).In group A,6 of the microdeletion cases were in the AZFc region,1 in the AZFa region,2 in the AZFb region and 2 in both AZFb and AZFc regions,while in group B,8 cases were in the AZFc region,2 in the AZFb region and 1 in both AZFb and AZFc regions.Conclusion: Infertility is correlated to Y chromosome microdeletions in VC patients.Y chromosome microdeletion screening should be performed for infertile VC patients,especially for those with azoospermia or severe oligozoospermia.