原发性无精、少弱精症患者Y染色体AZF微缺失检测  

Azoospermia factor microdeletion on Y chromosome in patients with idiopathic azoospermia or severe oligozoospermia

作　　者：胡兰萍[1] 刘能辉[1] 潘乾[1] 梁德生[1] 龙志高[1] 胡浩[1] 朱海燕[1] 戴和平[1] 蔡芳[1] 邬玲仟[1] 夏昆[1] 夏家辉[1] 

机构地区：[1]中南大学湘雅医院中国医学遗传学国家重点实验室,长沙410078

出　　处：《中南大学学报（医学版）》2007年第2期241-245,共5页Journal of Central South University ：Medical Science

基　　金："973"项目(2001CB510302)~~

摘　　要：目的:研究男性不育与Y染色体位点缺失的相关性,建立可靠的原发性无精子症和少弱精子症患者Y染色体微缺失的基因诊断方法。方法:采用多重PCR技术,对100例染色体核型正常的、无精子症和少弱精子症患者Y染色体无精子因子(azoospermia factor,AZF)区域的6个序列标签位点进行检测。结果:100例患者中,4例(4%)Y染色体上存在不同位点等位基因片段的缺失,其中3例患者为无精子症;1例为严重少弱精子症。结论:以多重PCR为基础的AZF微缺失筛查是一种简单有效的诊断原发性无精子症和少弱精子症的方法。Y染色体微缺失是严重生精障碍的重要原因之一。Objective To investigate the correlation between male infertility and Y chromosome in idi microdeletions of azoospermia factor （AZF） regions, and to establish a reliable genetic opathic infertile male patients with azoospermia or severe oligozoospermia. Methods PCR amplification of 6 sequence-tagged sites in AZF regions of the Y chromosome was among 100 normal karyotype male patients with azoospermia or oligozoospermia. Results tients （4%） had Y chromosome microdeletions, the microdeletions of 3 patients were diagnosis Multiplex examined Four paidiopathic azoospermic and those of the other 1 patient were secretory azoospermia. Conclusion The PCR- based Y chromosome mierodeletion screening is simple and effective in the diagnosis of patients with severe male infertility. Mierodeletion of Y chromosome is one of the major causes of severe dyszooospermia.

关 键 词：原发性无精 男性不育 AZF因子 多重PCR 

分 类 号：R698.2[医药卫生—泌尿科学]