Y染色体AZFc区gr/gr和b2/b3缺失与男性生精障碍的相关性研究  

Study on the correlation between of the deletion of gr/gr and b2/b3 in AZFc region of Y chromosome and spermatogenesis dysfunction in males

作　　者：叶长烂 陈钰 周霞 张宏斌 YE Zhanglan;CHEN Yu;ZHOU Xia;ZHANG Hongbin(Laboratory of Basic Medical Science,General Hospital of Southern Theatre Command of PLA,Guangzhou,Guangdong 510010,China)

机构地区：[1]中国人民解放军南部战区总医院基础医学实验室,广东广州510010

出　　处：《中国优生与遗传杂志》2023年第9期1828-1832,共5页Chinese Journal of Birth Health & Heredity

基　　金：广东省医学科研基金项目(B2021432)。

摘　　要：目的 探讨Y染色体AZFc区gr/gr、b2/b3缺失与男性生精障碍的相关性。方法 选取2020年1月至2022年12月就诊于南部战区总医院的302例男性生精障碍患者(无精症81例、少精症221例)为实验组,141例同期精子数目正常的健康体检男性为对照组,针对AZFc区gr/gr特异性STS位点(sY1291)、b2/b3特异性STS位点(sY1191)、AZFc区基础STS位点(sY254、sY255)和内参对照(ZFX/Y、SRY),设计特异性引物和探针,采用实时荧光定量PCR法对两组研究对象进行检测。结果 实验组共检出gr/gr缺失32例(10.60%)、b2/b3缺失34例(11.26%),其中81例无精症患者检出gr/gr缺失10例(12.35%)、b2/b3缺失8例(9.88%);221例少精症患者检出gr/gr缺失22例(9.95%)、b2/b3缺失26例(11.76%)。对照组共检出gr/gr缺失19例(13.48%)、b2/b3缺失7例(4.96%)。实验组b2/b3缺失的发生率明显高于对照组(P=0.033),而gr/gr缺失组间差异无统计学意义(P=0.376)。结论 b2/b3缺失与男性生精障碍具有相关性,但gr/gr缺失在生精障碍患者和正常健康男性中均存在,无显著性差异,不能作为精子发生的危险因素。Objective To explore the correlation between the deletion of gr/gr and b2/b3 in the AZFc region of Y chromosome and spermatogenesis dysfunction in males.Methods A total of 302 male patients with spermatogenesis dysfunction(81 with azoospermia and 221 with oligozoospermia)who were treated in the General Hospital of Southern Theatre Command from January 2020 to December 2022 were selected as the experimental group,and 141 healthy males with normal sperm count during the same period were selected as the control group.Specific primers and probes were designed for gr/gr specific STS site(sY1291),b2/b3 specific STS site(sY1191),basic STS sites of AZFc(sY254,sY255)and internal reference controls(ZFX/Y,SRY).Real-time quantitative PCR was used to detect the two groups of subjects.Results There were 32 cases(10.60%)of gr/gr deletionand 34 cases(11.26%)of b2/b3 deletion in the experimental group,of which,10 cases of gr/gr deletion(12.35%)and 8 cases of b2/b3 deletion(9.88%)in the 81 patients with azoospermia,22 cases of gr/gr deletion(9.95%)and 26 cases of b2/b3 deletion(11.76%)in the 221 patients with oligozoospermia.In the control group,there were 19 cases(13.48%)of gr/gr deletion and 7 cases(4.96%)of b2/b3 deletion.The incidence of b2/b3 deletion in the experimental group was significantly higher than that in the control group(P=0.033),while there was no statistically significant difference in gr/gr deletion(P-0.376).Conclusion b2/b3 deletion may associated with spermatogenesis dysfunction,but gr/gr deletion exists in both spermatogenesis dysfunction patients and healthy men,and cannot be considered as a risk factor for spermatogenesis dysfunction.

关 键 词：AZFc gr/gr缺失 b2/b3缺失 生精障碍 

分 类 号：R698.2[医药卫生—泌尿科学]