PCR方法检测少精子、无精子症者Y染色体微缺失  

Screening for the microdeletions of azoospermia factor on the Y chromosome with multiplex PCR

作　　者：刘雅峰[1] 高勇[1] 徐艳文[1] 周灿权[1] LIU Ya-feng;GAO Yong;XU Yan-wen;ZHOU Can-quan.(Center for Reproductive Medcine The First Affiliated Hospital of Sun Yat-Sen Unversituy , Guangzhou 510080, China)

机构地区：[1]中山大学附属第一医院生殖医学中心

出　　处：《中国优生与遗传杂志》2018年第5期30-31,41,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究原发性无精子、严重少精子症与Y染色体无精子因子（AZF）微缺失之间的关系。方法采用多重聚合酶链反应技术对103例原发无精子症、72例原发严重少精子症患者及60例正常生育男性进行AZFa、AZFb、AZFc三个区域微缺失分析。结果 60例正常生育男性未发现Y染色体AZF区域微缺失,175例生精障碍患者中发现AZF微缺失19例,总缺失率为10.9%。其中11例无精子症患者和4例少精子症患者的缺失发生在AZFc区域,缺失率为8.6%;1例无精子症患者和2例少精子症患者发生AZFb、AZFc双重缺失,缺失率为1.7%;1例无精子症患者发生AZFa、b、c三个区域同时微缺失,缺失率0.6%。生精障碍组与正常生育男性组比较Y染色体AZF区域微缺失率差异具有显著性（P〈0.001）。结论 Y染色体AZF区域微缺失是引起男性无精子、少精子症的重要原因之一。采用多重聚合酶链反应技术对原发无精子、少精子症患者在单精子注射（ICSI）之前进行微缺失筛查是必要的。Objective：To investigate the relationship between microdeletion of azoospermia factor（AZF）and male infertility. Methods：Multiplex PCR was used to detect Y chromosome microdeletion in AZFa,AZFb and AZFc on 103 cases of idiopathic azoospermia,72 cases of severe idiopathic oligozoospermia,and 60 cases of healthy male controls. Results：No microdeletion was found in 60 controls.Y chromosome microdeletion was found in 19 of 175 azoospermia patients,the total p revalence rates of microdeletion was 10.9%. There were 15 cases（11 for azoospermia,4 for severe oligozoospermia）in AZFc（8.6%）;3 case（1 for azoospermia,2 for severe oligozoo spermia）in AZFb＋c（1.7%）;1 case（1 for azoospermia）in AZFa＋b＋c（0.6%）. According to statistics,the difference between two groups was significant（P〈0.001）. Conclusion：Y chromosome microdeltions is an important reason of azoospermia,screening of Y chromosome microdeletions for azoospermia patients before ICSI treatment is essential.

关 键 词：多重聚合酶链反应 无精子因子 微缺失 

分 类 号：R698.2[医药卫生—泌尿科学]