摘要
目的探讨不育男性患者Y染色体上无精因子基因（AZF）微缺失情况及其临床表现。方法对2005年10月~2014年7月在广西妇幼保健院就诊2 336不育男性患者采用多重聚合酶链反应结合琼脂糖凝胶电泳检测AZF15个序列标签位点。结果 2 336例患者中检测出AZF微缺失138例（5.91%）,以c区微缺失率最高为4.92%,检出11种微缺失类型。其中单独AZFc区微缺失表现为少或弱精子症、严重少精子症和或无精子症,单独a区或b区微缺失表现为无精子症或严重少精子症,多个区联合微缺失均表现为无精子症。结论本地区男性不育患者AZF微缺失具有多样性,以c区微缺失为主,单独c区微缺失临床表现异质性较大,a区和b区微缺失临床表现较重,多个区联合微缺失时临床表现最严重。
Objective：To investigate the clinical manifestation of infertile men with AZF microdeletions of Y chromosome in infertile men. Methods：From October 2005 to July 2005,a total of 2 336 infertile men were screening for 15 sequence tagged site in AZF by multiple-PCR and agarosegel electrophoresis were performed. Results：Out of 2 336 infertile patients,138（5.91%）men presented microdeletions of Y chromosome,with the AZFc microdeletion exhibiting the most varied phenotypes（4.92%）,and 11 types was found. Deletion of AZFc was found in,severe oligozoospermia and oligozoospermia men. Deletion of AZFa or AZFb were found in azoospermia and severe oligozoospermia men. Deletion of two and more AZF were found in azoospermia men. Conclusion：The deletions of AZF were varied In Guangxi infertile men. Deletion of AZFc were the most common,and deletion of AZFc are associated with a wide range of phenotypical. Patients with Deletion of two and more AZF deletions present azoospermia.
出处
《中国优生与遗传杂志》
2015年第3期109-110,共2页
Chinese Journal of Birth Health & Heredity
