SPO11基因单核苷酸多态性与陕西回族人群非梗阻性无精症相关性研究

目的探讨SPO11基因单核苷酸多态性在陕西回族非梗阻性无精症人群中的分布及其与无精症发病风险的关联。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法,分析40例陕西回族非梗阻性无精症患者和45例陕西回族正常对照男性SPO11基因SNP位点（rs28368082）的基因分型和等位基因频率,以及其与非梗阻性无精症发病的相关性。结果 SPO11基因SNP位点（rs28368082）的CC,CT两种基因型频率在病例和对照组中分布存在显著性差异（P=0.048）,携带CT基因型的个体患非梗阻性无精症的风险是CC基因型的7.76倍（95%CI=0.89～66.58）。结论SPO11基因SNP位点（rs28368082）与陕西回族人群非梗阻性无精症发病风险存在关联,可能是陕西回族人群非梗阻性无精症的遗传易感基因之一。

Association study of SPO11 genesingle nucleotide polymorphisms with nonobstructive azoospermia in Hui minority ethnic population of Shaanxi

Objective To examine the incidence of single nucleotide polymorphisms(SNP) of SPO11 gene and its association with nonobstructive azoospermia in Hui minority ethic population of Shaanxi Province.Methods Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used to type at SPO11 SNP locus(rs28368082) in 40 patients with nonobstructive azoospermia and 45 healthy controls in male Hui minority ethic population of Shaanxi province.Results The frequencies of the CC and CT genotypes were significantly different in distribution between patients with nonobstructive azoospermia and the controls(P=0.048).Men with the CT genotype had a higher risk of nonobstructive azoospermia than those with the CC genotype(OR=7.76,95%CI=0.89~66.58).Conclusion SNP(rs28368082) polymorphism of SPO11 gene is correlated with nonobstructive azoospermia,which may be a potential susceptibility gene for male infertility in Hui minority ethic population of Shaanxi province.