DAZL基因单核苷酸多态性与男性不育相关性研究

目的探讨常染色体DAZL基因单核苷酸多态性与男性不育的关系。方法采用聚合酶链式反应—限制性片段长度多态性（PCR-RFLP）法检测71例男性不育患者和200例正常对照者DAZL基因单核苷酸多态位点Rs2303591A〉G的基因型,计算基因型频率和等位基因频率,对比分析两组基因频率和基因型频率分布。结果Rs2303591A〉G位点在中国汉族人群中具有多态性,其基因频率与基因型频率分布在病例组和对照组中均符合Hardy-Weinberg平衡,基因型AA、GA和GG的频率在病例组分别为0.155、0.563和0.282,在对照组中分别为0.285、0.550和0.165,该位点的基因型频率在病例组和对照组间的差异均无统计学意义（P〉0.05）,而基因频率差异有统计学意义（P〈0.05）,提示该多态位点与中国汉族人群男性不育无显著相关性。结论DAZL基因Rs2303591A〉G与中国汉族人群男性不育易感性没有显著相关性。

Association study of DAZL gene polymorphisms and male infertility

Objective： To investigate the male infertility association with single nucleotide polymorphisms of the autosomal DAZL gene.Methods： SNP Rs2303591A〉 G in DAZL gene was genotyped in 71 male infertility patients and 200 healthy controls by the method of the polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP）.The Chi-square test was used to evaluate the Hardy-Weinberg equilibrium.Allele frequencies and significance values were analyzed by using SPSS13.0 software.Results： SNP Rs2303591A 〉G was genetically polymorphic in the Chinese Han population.The distribution of this SNP was at Hardy-Weinberg equilibrium in both male infertility patients and healthy controls.The frequencies of genotypes AA,GA,and GG at Rs2303591A〉 G site were 0.155,0.563,and 0.282 in the male infertility patients,and 0.285,0.550,and 0.165 in the healthy controls.No statistically significant difference was observed in the distribution of genotype and allele frequency between asthma patients and healthy controls（P〉 0.05）,and statistically significant difference was observed in the distribution of allele frequency between the male infertility patients and the healthy controls（P〈0.05）.Conclusion： SNP Rs2303591A〉G in the DAZL gene is not associated with male infertility in the Chinese Han population,but the probability that other polymorphisms in the DAZL gene might be associated with male infertility cannot be excluded.