摘要
目的探讨Y染色体AZFc区gr/gr缺失及DAZ基因拷贝缺失与男性生精障碍的相关性。方法运用PCR与PCR-RFLP检测技术,对252例正常生精男性,430例原发性生精障碍男性患者进行Y染色体AZFc区gr/gr缺失及DAZ基因拷贝缺失分析。结果正常生精男性组gr/gr缺失率为5.2%,原发性生精障碍组gr/gr缺失率为10.2%,P=0.021,差异有统计学意义;正常生精男性组DAZ1/DAZ2基因拷贝共缺失率为2.0%,原发性生精障碍组中DAZ1/DAZ2基因拷贝共缺失率为7.0%,P=0.004,差异亦有统计学意义;正常生精男性组DAZ3/DAZ4基因拷贝共缺失率为3.2%,在生精障碍组中DAZ3/DAZ4基因拷贝的共缺失率为3.3%,P=0.954,差异无统计学意义。结论在原发性男性生精障碍患者中存在较高频率的gr/gr缺失及DAZ1/DAZ2基因共缺失,提示gr/gr缺失及DAZ1/DAZ2基因拷贝的共缺失是男性不育的高风险因子。
Objective： To investigate the correlation between the deletions of gr/gr in the AZFc region of Y chromosome as well as DAZ gene copy deletions and male novel spermatogenic impairment. Methods： Exerting PCR and PCR - RFLP technology to analyze the deletions of gr/gr in the AZFc region and DAZ gene copys in 252 men with normal spermatogenesis and 430 with novel oligo -/ azoospermia. Results： The frequency of gr/gr deletions in normal spermatogenesis group is 5. 2%, but in spermatogenic impairment group is 10. 2%, P =0. 020. There are significant deferences. The frequency of DAZ1/DAZ2 gene copy doublets deletion in normal spermatogenesis group is 2.0%, but in spermatogenic impairment group is 7.0%, P = 0. 004. There are also significant deferences. The frequency of DAZ3/DAZ4 gene copy doublets deletion in normal spermatogenesis group is 3.2%, yet in spermatogenic impairment group is 3.3%, P =0. 954. There are no significant deferences. Conclusion： Our results showed that there are higher frenquency of gr/gr and DAZ1/DAZ2 gene copy doublets deletions in men with novel spermatogenic impairment. This indicate that gr/gr deletion and DAZ1/DAZ2 gene copy doublets deletion is a high risk factor to male infertility.
出处
《中国优生与遗传杂志》
2007年第5期20-21,98,共3页
Chinese Journal of Birth Health & Heredity
