Y染色体AZFc区缺失与原发性男性不育相关性研究

Correlative Study of Y Chromosome Deletion and Idiopathic Male Infertility in Han-Chinese Population

目的:探讨中国汉族人群中AZFc区部分缺失对精子生成的影响。方法:采用病例-对照研究方法,通过多重聚合酶链式反应(PCR)体系检测原发性男性不育病例393例和正常对照214例的缺失类型,分析gr/gr部分缺失、b2/b3部分缺失在病例对照间的分布以及与原发性男性不育的相关性。结果:与对照组相比,b2/b3部分缺失在无精组(P=0.025)、少精组(P=0.050)及不育/精子生成异常组(P=0.017)发生率显著增加,携带b2/b3部分缺失的个体罹患无精(OR=2.53,95%CI:1.10～5.83)、少精(OR=2.43,95%CI:0.98～6.06)的风险性显著提高,而gr/gr部分缺失在各组间的分布没有统计学差异。结论:b2/b3部分缺失会增加精子生成障碍的风险性。

Objective:To investigate the role of partial AZFc deletions in idiopathic male infertility in Han-Chinese population.Methods: 393 idiopathic infertile Han-Chinese and 214 healthy Han-Chinese were detected by polymerase chain reaction(PCR).Results:Compared with the control group,it was found that b2/b3 subdeletions were associated with significantly increased risk of azoospermia(OR,2.53;95% CI,1.10～5.83)(P=0.025),oligozoospermia(OR,2.43;95% CI,0.98～6.06)(P=0.050) and infertility/abnormospermia(subtotal of azoospermia and oligozoospermia)(OR,2.49;95% CI,1.15～5.40)(P=0.017),while there was not any significant difference between the groups of infertility/normospermia and fertility/normospermia.Conclusion:The b2/b3 partial deletion was correlated with spermatogenic failure.