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

目的 探讨Y染色体无精症因子C区(azoospermia factor C，AZFe)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210例已生育男性、216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。

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

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.