摘要
目的:研究AZFc区gr/gr和b2/b3缺失中DAZ基因拷贝缺失对中国男性精子发生障碍的影响。方法:试验组纳入121例不同程度生精障碍的不育男性,对照组选择了95例健康男性且均符合《WHO人类精液检查与处理实验室手册》第5版标准,通过常规PCR和PCR-RFLP以及Y染色体特异性序列标签位点(STS),分析AZFc区不同类型gr/gr和b2/b3缺失中DAZ基因拷贝缺失与男性精子发生障碍的关系。结果:对照组中共观察到13例(13.68%)gr/gr缺失和1例(1.05%)b2/b3缺失,试验组中发现15例(12.40%)gr/gr缺失及6例(4.96%)b2/b3缺失。DAZ特异性单核苷酸变异位点(SNV)分析显示对照组中有3例(3.16%)gr/gr-DAZ1/DAZ2缺失和10例(10.53%)gr/gr-DAZ3/DAZ4缺失以及1例(1.05%)b2/b3-DAZ3/DAZ4缺失,试验组中有11例(9.09%)gr/gr-DAZ1/DAZ2缺失和4例(3.31%)gr/gr-DAZ3/DAZ4缺失以及6例(4.96%)b2/b3-DAZ1/DAZ2缺失。结论:中国男性Y染色体AZFc部分缺失(gr/gr、b2/b3缺失)在正常生精者和不同程度的生精障碍患者中均存在,且差异无统计学意义,不能作为精子发生障碍的危险因素。但gr/gr和b2/b3缺失中不同类型的DAZ拷贝子缺失对男性精子发生的影响不同,DAZ1/DAZ2缺失与男性生精功能障碍相关,可能是导致男性不育的危险因素,而DAZ3/DAZ4缺失似乎对生精的影响很小或不起作用。
Objective： To investigate the correlation of the deleted azoospermia（ DAZ） gene copy related to gr/gr and b2 /b3 deletions in the AZFc region with male spermatogenic impairment. Methods： This study included 121 infertile men with different degrees of spermatogenic impairment and 95 healthy donors from the sperm bank. Using PCR,PCR-RFLP,and Y chromosome specific sequence tagged sites（ STS）,we analyzed the association of DAZ gene copy deletions related to gr / gr and b2 / b3 deletions in the AZFc region with spermatogenic impairment. Results： There were 15 cases of gr / gr deletion（ 12. 40%） and 6 cases of b2 / b3 deletion（ 4. 96%） in the infertility group as compared with 13 cases of gr/gr deletion（ 13. 68%） and 1 case of b2 /b3 deletion（ 1. 05%） in the control. Analysis of the DAZ-specific single nucleotide variant（ SNV） loci revealed 11 gr / gr-DAZ1 / DAZ2 deletions（ 9. 09%）,4gr / gr-DAZ3 / DAZ4 deletions（ 3. 31%）,and 6 b2 / b3-DAZ1 / DAZ2 deletions（ 4. 96%） in the infertile men in comparison with 3 gr /gr-DAZ1 / DAZ2 deletions（ 3. 16%）,10 gr / gr-DAZ3 / DAZ4 deletions（ 10. 53%）,and 1 b2 / b3- DAZ3 / DAZ4 deletion（ 1. 05%） in the control. Conclusion： Partial deletions of gr / gr and b2 / b3 exist in both healthy men and male patients with different degrees of spermatogenic impairment and cannot be considered as a risk factor for spermatogenesis impairment. However,deletions of different DAZ duplicons in gr / gr and b2 / b3 deletions have different effects on spermatogenesis. DAZ1 / DAZ2 instead of DAZ3 / DAZ4 deletions might be associated with spermatogenesis impairment.
出处
《中华男科学杂志》
CAS
CSCD
北大核心
2016年第1期17-21,共5页
National Journal of Andrology
基金
江苏省"六大人才高峰"高层次人才项目(2012-WSN-020)
江苏省"333高层次人才培养工程"(2011.Ⅲ-26110)
江苏省科技计划项目(BK20131442)~~
