摘要
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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2015年第6期866-870,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81501336)
关键词
原发性不育
SPO11基因
GST基因
多态性
Idiopathic male infertility
SP011 gene
Glutathionine S-transferase gene Polymorphism