DAZL基因单核苷酸多态性与弱畸精子症的相关性研究  

DAZL gene polymorphisms and asthenoteratozoospermia

作　　者：叶禄伟[1] 余庆锋[2] 杨学习[3] 李景平[1] 武小强[1] 张永海[2] 毛向明[1] 

机构地区：[1]南方医科大学附属南方医院泌尿外科,广东广州510515 [2]中山大学附属汕头医院泌尿外科,广东汕头515031 [3]南方医科大学生物技术学院抗体工程研究所,广东广州510515

出　　处：《中华男科学杂志》2013年第4期311-314,共4页National Journal of Andrology

基　　金：广东省科技计划项目(2010B03160009);广州市科技计划项目(2011Y1-00039-3)~~

摘　　要：目的:探讨DAZL基因(deleted in azoospermia like)单核苷酸多态性(SNP)与弱精子症伴畸形精子症男性不育的关系。方法:收集弱畸精子症不育患者(病例组,n=173)和精液正常男性(对照组,n=175)精液样本,进行精液常规及精子形态学分析并提取精子基因组DNA,应用Sequenom MassARRAY SNP分型技术对DAZL基因A260G和A386G多态性位点进行基因分型,比较病例组与对照组基因型的分布差异。结果:在病例组与对照组中,DAZL基因A260G、A386G这两个位点均表现为野生基因型,无突变基因型。结论:DAZL基因A260G和A386G两个多态性位点与汉族男性精子活力低下及精子形态异常所致不育可能不存在相关,不足以视为男性不育的易感基因。Objective： To investigate the association between single nucleotide polymorphism （SNP） of the DZAL gene in infertile Han Chinese males with asthenoteratozoospermia. Methods： We collected semen samples from 173 infertile Han Chinese men with asthenoteratozoospermia （case group） and 175 age-matched normal male volunteers （control group） for semen routine and mor- phological analyses. We obtained genomic DNA, genotyped the polymorphisms of the DAZL gene A260G and A386G via the Sequenom MassARRAY system, and compared the frequencies of the genotypes between the case and control groups. Results ： The AA nucleo- tide variant was found in the A260G and A386G polymorphisms of the DZAL gene in both the cases and controls, but the heterozygous AG variant in neither. Conclusion ： The A260G and A386G polymorphisms of the DAZL gene are not correlated with asthenoteratozoospermia-induced male infertility in the Han Chinese population, and therefore could not be considered as molecular markers of male infertility.

关 键 词：男性不育 弱畸精子症 DAZL基因 单核苷酸多态性 汉族人群 

分 类 号：R698.2[医药卫生—泌尿科学]