摘要
目的探究良性家族性新生儿惊厥(Benign neonatal familial convulsions,BFNS)与SCN9A基因多态性位点rs10171225的相关性。方法采集40例BFNS患者及正常对照组46例血样,提取全基因DNA,聚合酶链反应-限制性片段长度多态(PCR-RFLP)、测序法检测SCN9A基因Rs10171225位点多态性,比较两组该位点基因型和等位基因频率的差异。结果 SCN9A基因Rs10171225位点多态在BFNS病例组与对照组间无显著差异(P>0.05)。结论 SCN9A基因多态性位点Rs10171225与BFNS易感性不相关。
Objective：Explore the relationship between SCN9 A rs10171225 and BNS. Methods：Collected peripheral blood of 40 cases of patients and 46 cases of normal control,and extracted genomic DNA by kits,The Polymerase chain reactionrestriction fragment length polymorphism（PCR-RFLP）,sequencing assay SCN9 A Rs10171225 polymorphism,evaluated whether there are significantly differences between case group and control group. Results：SCN9A gene Rs10171225 polymorphic loci between BFNS case group and the control group had no significant difference（P〉0.05）. Conclusion：Rs10171225 SCN9 A gene loci polymorphism is not associated with BFNS susceptibility.
出处
《中国优生与遗传杂志》
2016年第4期15-16,18,共3页
Chinese Journal of Birth Health & Heredity
基金
2015年黑龙江省大学生创新创业训练计划指导项目资助,项目编号:201510222043
