SPO11基因和GST基因多态性与汉族人群原发性不育的相关性研究

Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese

目的探讨SPOjj基因及谷胱甘肽硫转移酶（glutathionine S-transferase，GST）基因家族多态性与汉族人群原发性不育的相关性。方法采用多重PCR及测序技术检测216例汉族原发性不育男性和198名正常生育男性的SP011基因rs28368082位点（C．517C〉T）和GST基因家族多态性。结果SP011基因CC和TT基因型在病例组中基因型频率分别为87．5%（189／216）和12．5％（27／216），在对照组中分别为97．5％（193／198）和2．5％（5／198），两种基因型频率在两组中分布差异有统计学意义（P〈0．05）GSTP1第5外显子（c．313A〉G）多态性在病例和对照组中频率分布差异有统计学意义（P〈0．05）；GSTMI（-／-）、GSTT1（＋／＋）、GSTP1（AA）基因型与SPO11（CT）基因型组合频率分布在病例和对照组中差异有统计学意义（P〈0．05）。结论SP011基因rs28368082位点C〉T及GSTP1第5外显子c．313A〉G多态性可能是汉族人群原发性不育患者的遗传易感因素。

Objective To explore the possible roles of polymorphisms of SP011 and glutathionine S- transferase （GST） genes in idiopathic male infertility in a ethnic Han Chinese population from Henan. Methods Multiplex PCR and DNA sequencing were performed to determine the SP011 c. 517C 〉 T （rs28368082） and GST genes （GSTM1, GSTT1, GSTP1） polymorphisms in 216 idiopathic male infertility cases and 198 normal samples. Results The frequencies of the SP011 CC and CT genotypes were 87.5% （189/216） and 12.5%（27/216） in the patients, and 97.5%（193/198） and 2.5%（5/198） in the controls, respectively. The frequencies of SP011 CC and CT genotypes, the A〉G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the frequencies of combined genotypes GSTM1 （ -/-）, GSTT1 （ ＋ / ＋）, GSTP1 （AA） and SP011 （CT） were significantly, different between the two groups （P〈0.05）. Conclusion The rs28368082 polymorphism of the SP011 gene, the A〉G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the combined genotypes of GSTM1 （-/-）, GSTT1 （＋/＋）, GSTP1 （AA） and SP011 （CT） may be associated with idiopathic male infertility in ethnic Han Chinese.