男性不育的遗传病因研究  

Study of the genetic etiology of male infertility

作　　者：王田园 肖晓素[2] 郑宝 郝亚军 刘诗诗 

机构地区：[1]深圳市南山区人民医院检验科,深圳518052 [2]北京大学深圳医院遗传咨询门诊,深圳518036

出　　处：《中国优生与遗传杂志》2018年第2期105-107,95,共4页Chinese Journal of Birth Health & Heredity

基　　金：2015年度深圳市卫生计生系统科研项目;项目编号:201507079

摘　　要：目的探讨染色体结构与数目异常,以及Y染色体无精子因子AZF微缺失和AZFc区部分缺失与男性不育的关系。方法运用多重PCR检测技术对494例无精子症、严重少精子症、少精子症患者和236例精液正常已生育男性进行AZF微缺失和AZFc部分缺失检测,并对494例男性不育患者进行外周血染色体核型分析。结果在无精子症、严重少精子症和少精子症患者中染色体数目与结构异常的发生率分别为11.86%(21/177)、3.39%(6/177)、2.08%(3/144)。无精子症和严重少精子症患者Y染色体AZF微缺失率明显高于少精子症组,差别有统计学意义(P<0.05)。生精障碍组和严重少精子症组与正常对照组b2/b3缺失率差异均有统计学意义,而在各组间gr/gr缺失显示相似的频率。结论无精子症、严重少精子症和少精子症患者中存在较高频率的染色体结构、数目异常与AZF基因微缺失现象,提示染色体结构、数目异常与AZF基因微缺失可能是男性不育的重要遗传原因;Y染色体AZFc区存在多种部分缺失类型,gr/gr缺失可能对生精功能的影响较小,仅是一种基因组多态,b2/b3缺失是男性生精障碍的的风险因素。Objective：To investigate the correlation of male infertility with abnormality of chromosomal construction and quantity and with the microdeletion of azoospermia factor（AZF）gene on the Y chromosome. As well as the relationship between the partial deletions in the AZFc region of Y chromosome and male infertility. Methods：Multiplex-PCR technique was used to detect microdeletions of AZF gene in 494 infertile men and 236 fertile controls with fifteen sequence-tagged sites（STSs）. Chromosome karyotype analyses were performed in the 494 patients. Results：In the azoospermia,severe oligozoospermia and oligozoospermia patients,the incidences of chromosomal abnormality were 11.86%（21/177）、3.39%（6/177）、2.08%（3/144）.The rates of AZF microdeletion in azoospermia and severe oligozoospermia were significant higher than that of the oligozoospermia. there were significant differences in the b2/b3 deletion between patients with spermatogenic failure and serious oligozoospermia and controls（both P0.05）. However,there was no difference for the gr/gr deletion between patients and controls. Conclusion：There was a high frequency of chromosomal construction and quantity abnormality and microdeletion of AZF gene in patients with azoospermia,severe oligospermia and oligospermia,which suggested that chromosomal abnormality and microdeletion of AZF gene might be the important genetic causes of male infertility;There are several types of partial deletion in the AZFc region on Y chromosome,gr/gr deletion might slightly affect male spermatogenesis and exist as a kind of genomic polymorphism. b2/b3 deletion is the high risk factor to spermatogenic failure of male infertility.

关 键 词：染色体异常 AZF微缺失 AZFc区 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]