AZFc区gr/gr及DAZ基因拷贝缺失与原发性男性生精障碍的相关性研究

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。

Study on the association of gr/gr deletions in the AZFc region and DAZ gene copy deletions in men with novel spermatogenic impairment as well as normal spermatogenesis

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 spermauogenic 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.