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目的:研究泛素特异蛋白酶26(Usp26)基因多态性与特发性男性不育的关系及其在精子发生过程中的作用机制。方法:按照WHO标准(第4版)从150例不育患者中筛选出41例特发性不育患者,同时选取50例正常生育男性作为对照。采用PCR-SSCP法,从特发性不育患者中筛选突变样本,通过基因测序以确定突变方式和位点。结果:筛选出的41例特发性男性不育患者主要表现为精子浓度低、活动率差。基因测序分析结果显示:41例不育患者中9例(22.0%,P=0.01)存在Usp26基因的改变。其中,从8例(19.5%,P=0.01)患者中检测出复合突变:364位插入ACA和460位A置换了G;从1例(2.4%,P>0.05)患者中检测出1 044位A置换了T。以上3种变化均导致编码氨基酸的改变。50例正常生育男性均未发现该基因的突变。结论:Usp26基因的多态性可能与特发性男性不育症密切相关,且影响睾丸功能。
Objective: To investigate the relationship between polymorphism of ubiquitin-specific protease 26 (Usp26) gene and idiopathic male infertility and its mechanism of action during spermatogenesis. Methods: According to the WHO standard (4th edition), 41 cases of idiopathic infertility were selected from 150 infertile patients, and 50 normal fertile men were selected as control. Mutation samples were screened from patients with idiopathic infertility by PCR-SSCP and sequenced to determine the mutation pattern and site. Results: The 41 patients with idiopathic male infertility were mainly characterized by low sperm concentration and poor activity rate. Gene sequencing analysis showed that 9 cases (22.0%, P = 0.01) of 41 infertile patients had Usp26 gene alteration. Among them, composite mutations were detected in 8 patients (19.5%, P = 0.01): 364 insertions of ACA and 460 A substitutions of G; 1 044 loci were detected in 1 patient (2.4%, P> 0.05) A replaced by T. All three of these changes result in changes in the encoded amino acid. All 50 normal fertile men did not find the mutation of this gene. Conclusion: The polymorphism of Usp26 gene may be closely related to idiopathic male infertility and affect testicular function.