无精症DAZ基因缺失研究  

Relationship between the entire DAZ genes as well as DAZ1/DAZ2 deletion and azoospermia

作　　者：阿周存[1] 李娜[2] 张炜[2] 

机构地区：[1]大理学院生命科学与化学学院遗传学教研室,云南大理671000 [2]四川大学华西医院医学遗传室,成都四川610041

出　　处：《中国现代医学杂志》2006年第24期3726-3728,共3页China Journal of Modern Medicine

摘　　要：目的探讨无精症患者的DAZ基因全缺失和DAZ1/DAZ2缺失。方法应用多重PCR和PCR-RFLP技术,对252个正常生精男性和228例无精症患者的DAZ基因全缺失和DAZ1/DAZ2缺失进行了分析。结果DAZ基因全缺失仅见于无精症患者,频率为9.2%。在无精症患者和正常生精男性中均发现DAZ1/DAZ2缺失,但无精症患者中的频率显著高于正常男性(9.7%VS3.2%,P=0.003)。结论DAZ基因的全部缺失是无精症的遗传病因之一,而DAZ1/DAZ2缺失是无精症的一个高风险因子。[Objective] To investigate the relationship of the entire deleted in azoospermia (DAZ) genes as well as DAZ1/DAZ2 deletion and azoospermia. [Methods] The entire DAZ genes and DAZ1/DAZ2 deletion were analyzed by multiplex polymerase chain reaction (multi-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 228 infertile patients with azoospermia and 252 normospermic men as controls. [Results] The entire DAZ genes deletion was only present in 9.2% of azppspermic patients. DAZ1/DAZ2 deletion was present in both patients with azoospermia and normospermic men, but its frequency was significantly higher in azoospermic patients than that in normospermic men (9.7% vs. 3.2%, P=0.003). [Conclusion] The findings of present study suggested that the entire DAZ deletion is a frequent genetic cause of azoospermia, and DAZ1/DAZ2 deletion is a high risk factor for the disease

关 键 词：无精症 DAZ基因 缺失 

分 类 号：R394[医药卫生—医学遗传学]