无精子因子C区部分缺失与男性不育相关性研究

目的 探讨Y染色体无精子症因子C区(azoospermia factor C,AZFc)部分缺失与男性不育的关系.方法 采用多重PCR技术对实验组453例原发不育患者(无精子症158例,严重少精子症160例,少精子症135例)和对照组236名已正常生育男性进行AZFc区部分缺失检测,并应用限制性片段长度多态性技术,对部分缺失携带者进行DAZ基因拷贝缺失分析.结果 在所发现的两种常见缺失中,少精症组和严重少精症组与正常对照组b2/b3缺失率差异均有统计学意义,而在各组中gr/gr缺失显示相似的频率.结论 Y染色体AZFc区b2/b3缺失可能是该人群生精障碍发生的风险因素,并与男性原发不育相关.

Study on the relationship between partial deletions in the azzospermia factor C region of Y chromosome and male infertility

Objective To investigate the relationship between the partial deletions in the azzospermia factor (AZFc) region of Y chromosome and male infertility. Methods Multiplex PCR technology was performed to screen the partial deletions in the AZFc region in 158 azoospermia, 160 severe oligozoospermia and 135 oligozoospermia patients and 236 men with normal spermatogenesis. For samples with gr/gr, b2/b3 recombinogenic deletions, author applied RFLP method to identify which DAZ gene doublet deletion was involved. Results The gr/gr and b2/b3 were two types of common deletions detected. There were significant differences in the b2/b3 deletion in patients with oligozoospermia and severe oligozoospermia compared to the controls (both P<0. 05). However, there was no difference for the gr/gr deletion between the patients and controls. Conclusion The results suggested that the b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility.