【摘要】 目的 研究非电压门控钠离子通道基因SCNN1G以及IL1B基因与先天性双侧输精管缺如(CBAVD)间的关系。方法 通过直接测序和聚合酶链反应-限制性片段长度多态性(PCR-RELP)方法 检测基因多态性位点rs5735(SCNN1G基因)和rs3917356(IL1B基因)在109例病例和103例对照人群中的基因型频率的分布。结果 两个单核苷酸多态性(SNP)位点在病例-对照组中的等位基因、基因型频率分布差异无显著性(P=0.2410,P=0.1701 rs5735;P=0.5564,P=0.0959 rs3917356)结论 SCNN1G基因(rs5735)、IL1B基因(rs3917356)均未发现与CBAVD之间存在明显的关联性。更多还原

【Abstract】 Objective To investigate whether SCNNIG and IL-1β polymorphisms were associated with the development of congenital bilateral absence of the vas deferens(CBAVD).Methods A total of 222 Han Chinese males,including 109 CBAVD and 103 controls were recruited in the study.IL-1B(rs3917356) and sodium channel nonvoltage-gated 1(SCNNIG,encoding the ENaC y-subunit)(rs5735) polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and direct sequencing.Results No significant differences in gene locus frequency of either SNP were found between patients with CBAVD and the control(P =0.2410,P =0.1701 rs5735;P =0.5564,P =0.0959 rs3917356,respectively).Conclusion These results suggest that SNPs of SCNNIG gene and IL1 B gene may not be associated with the development of CBAVD.更多还原