泛素特异蛋白酶26基因序列改变与精子发生相关性的研究  

The study of Association of genetic variants in USP26 gene with spermatogenesis impairment

作　　者：魏莉[1] 史轶超[1] 范晓博[1] 崔英霞[1] 黄宇烽[1] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究所,南京医学硕士研究生210002

出　　处：《医学研究生学报》2010年第10期1020-1024,共5页Journal of Medical Postgraduates

基　　金：国家自然科学基金(0901652)

摘　　要：目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关系。方法在排除染色体畸变和Y染色体微缺失的基础上,对156例无精子症和非梗阻性少精子症不育患者和86例正常生育男性对照者进行了USP26基因测序。结果USP26基因序列存在6种改变,其中g.508G>A,p.G170R仅在少精子组中发现,以前未见报道。除同义突变g.576G>A外,其他序列改变在不育组和生育组中的分布没有显著差异。结论USP26基因序列改变可能并不直接影响精子发生。Objective There are conflicting reports on whether mutations in ubiquitin specific protease 26（USP26） are associated with male infertile.The purpose of the present study was to study the possible involvement of USP26 gene in spermatogenesis and infertility.Methods DNA was isolated from peripheral blood of the patients and control population for DNA sequencing.Infertility factors such as semen analyses,karyotyping,azoospermia factor（AZF） microdeletion were examined.Results Six variants were detected.Five variations led to changes in the coding amino acids.A new change g.508GA was observed.There were no significant difference between infertile men and fertile men of the six variants,except for the synonymous mutation g.576GA.Conclusion The genetic variants in USP26 gene may not directly associated with male infertility.

关 键 词：USP26基因 基因序列改变 精子发生 多序列比对 

分 类 号：Q754[生物学—分子生物学]