DAZL基因单核苷酸多态性与弱畸精子症的相关性研究

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。

DAZL gene polymorphisms and asthenoteratozoospermia

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 morphological 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 nucleotide 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 asthenoterato-zoospermia-induced male infertility in the Han Chinese population,and therefore could not be considered as molecular markers of male infertility.