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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 relationship between single nucleotide polymorphisms (SNPs) of DAZL gene and male infertility with asthenospermia. Methods: Spermatozoites were collected from infertile patients (case group, n = 173) and normal semen (control group, n = 175) with sperm dysplasia, routine and sperm morphological analysis and sperm genomic DNA were extracted. Sequenom MassARRAY SNP genotyping technique was used to genotype the A260G and A386G polymorphism sites of DAZL gene and to compare the distribution of genotypes between case group and control group. Results: In the case group and the control group, both the A260G and A386G DAZL genes showed wild genotypes and no mutant genotypes. CONCLUSION: The polymorphisms of A260G and A386G in DAZL gene may not be related to the low sperm motility and infertility caused by abnormal sperm morphology in Han Chinese, which may not be considered as susceptibility genes for male infertility.