中国男性原发不育的遗传高风险因子:Y染色体DAZ基因拷贝缺失  

A high risk genetic factor with idiopathic male infertility in Chinese:deletion of DAZ gene copy on Y chromosome.

作　　者：杨元[1] 肖翠英[1] 张思仲[1] 张思孝[1] 黄明孔[2] 林立[1] 

机构地区：[1]四川大学华西医院,四川成都610041 [2]四川省生殖卫生学院,四川成都610000

出　　处：《四川医学》2004年第11期1166-1168,共3页Sichuan Medical Journal

摘　　要：目的　探讨Y染色体无精症因子C区 (azoospermiafactorC ,AZFc)无精症缺失基因 (deleted in azoospermia ,DAZ)家族基因拷贝缺失与中国男性原发不育之间的关系。方法　运用多重PCR与PCR -RFLP检测技术 ,对 2 10例已生育男性、2 16例原发无精症与 189例严重少精症患者Y染色体AZFc区域DAZ基因家族的基因拷贝数进行分析。结果　在所有已生育男性中未检出DAZ基因拷贝的完全或部分缺失 ,而在原发无精症与严重少精症患者中DAZ基因拷贝完全缺失率分别为 8.8%和 12 .2 % ,DAZ1/DAZ2共缺失率分别为 8.3 %和 5 .3 %。结论　在中国男性原发无精症与严重少精症患者中存在较高频率的DAZ基因拷贝缺失现象 ,提示Y染色体AZFc区域DAZ基因家族基因拷贝的完全与部分缺失是中国男性原发不育的遗传高风险因子。Objective To investigate the correlation between Chinese idiopathic male infertility and the deletion of DAZ gene family in AZFc region of Y chromosome.Methods The subject included 216 azoospermic and 189 severe oligozoospermic patients,as well as 210 fertile men in control.Multi-PCR and PCR-RFLP were used to analyze the deletion of DAZ gene family in AZFc region on Y chromosome.Results In azoospermic and severe oligozoospermic patients the prevalence of complete deletion is 8.8% and 12.2% respectively,the DAZ1/DAZ2 deletion is 8.3% and 5.3% respectively,while no deletion was detected in control.Conclusion There is high frequency of DAZ gene deletion in Chinese idiopathic azoospermia and oligospermia,suggesting that the partial and complete deletion of DAZ gene copy in AZFc region of Y chromosome is a high risk genetic factor responsible for Chinese idiopathic male infertility.

关 键 词：无精症缺失基因 基因缺失 男性不育 Y染色体 

分 类 号：R698.2[医药卫生—泌尿科学]