严重少精子症和无精子症患者Y染色体微缺失和生殖激素水平分析  

Analysis of Y chromosome microdeletions and gonadal hormone level in severe oligospermia and azoospermia man

作　　者：郝小燕[1] 张金彪[1] 王雪涛[1] 唐倩倩[1] HAO Xiao-yan ZHANG Jin-biao WANG Xue-tao TANG Qian-qian(Department of Laboratory Medicine, Hebei Province Cangzhou Hospital of Integrated Traditional and Western Medicine, Hebei Cangzhou 061000, China)

机构地区：[1]河北省沧州中西医结合医院检验科,河北沧州061000

出　　处：《中国优生与遗传杂志》2017年第10期49-50,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究严重少精子症和无精子症患者Y染色体AZF基因微缺失和生殖激素之间的关系。方法采用多重PCR方法对346例严重少精子症和无精子症患者进行Y染色体AZF基因微缺失检测,同时用化学发光法测定生殖激素水平,并对其结果进行对比分析。结果 346例患者中发现Y染色体微缺失患者19例,缺失率为5.5%,其中260例重度少精子症中Y染色体微缺失15例(5.8%),86例无精子症患者中Y染色体微缺失4例(4.7%),两病例组AZF区缺失分别与对照组相比较均具有显著差异,微缺失类型包括单纯AZFa微缺失1例;单纯AZFc微缺失15例;AZFb+AZFc微缺失3例。生殖激素检测结果显示,Y染色体微缺失患者组血清FSH水平显著高于无微缺失患者,T水平显著低于无微缺失患者。结论在严重少精子症和无精子症患者中Y染色体微缺失以AZFc区缺失最为常见,Y染色体微缺失是引起血清生殖激素水平变化的重要原因之一。Objective：To screen for Y chromosome microdeletions and Gonadal Hormone Level in patients which were severe oligospermia or azoospermia. Methods：Y chromosome microdeletions among 346 patients with severe oligospermia and azoospermia were analyzed by multiplex PCR method,and the levels of gonadal hormone were detected by chemilu-minescent met-hod. Result：Out of 346 patients with normal chromosome,19 were found with Y chronlosome microdeletion,with a rate of 5.5%,of which 15 were severe oligospermia（5.8%）,4 was azoospermia（4.7%）,The AZF deletions in the patients were significantly higher compared with the control group.All the deletiontype were 1 cases in AZFa,15 cases in AZFc,3 case in AZFb＋AZFc.The levels of FSH in Y chromosome microdeletion group was significantly increased（P〈0.05）while levels of T was significantly decreased（P〈0.05）compared with which in undeletion group.Conclusion：The common microdeletion regions were AZFc on Y chromosome in azoospermia or severe oligozoospermia. The Y chromosome microdeletions was one of the important causes of levels of gonadal hormone.

关 键 词：Y染色体微缺失 无精子症 少精子症 生殖激素 

分 类 号：R440[医药卫生—诊断学] R698.2[医药卫生—临床医学]