| 朱金玲 王菊丽 张金波 张虎 金岳雷.SCN9A基因多态与颞叶癫痫相关性[J].,2016,16(6):1047-1050 |
| SCN9A基因多态与颞叶癫痫相关性 |
| Association of SCN9A Gene Polymorphismin Temporal Lobe Epilepsy |
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| DOI： |
| 中文关键词: 颞叶癫痫 SCN9A 单核苷酸多态性 遗传易感性 |
| 英文关键词: Epilepsy SCN9A SNPs Genetic susceptibility |
| 基金项目:佳木斯大学科学研究项目（L2012-024） |
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| 中文摘要: |
| 目的：探讨SCN9A 基因多态与颞叶癫痫相关性。方法: 搜集179 例癫痫患者及正常对照组236 例血样，提取全基因组DNA。
聚合酶链反应- 限制性片段长度多态（PCR-RFLP）、测序法检测四个标签SNPs 多态性，比较两组各位点基因型和等位基因频率
的差异。结果：SCN9A 基因rs12620053 和rs7588632 位点多态在癫痫组与对照组间存在显著差异（P＜0.05），而rs2893013 和
rs4465779 位点多态在癫痫组与对照组间无显著差异（P＞0.05）。结论：SCN9A基因rs12620053 和rs7588632 位点多态与癫痫易
感性相关，而位点rs2893013 和rs4465779 与癫痫易感性无关。 |
| 英文摘要: |
| Objective:Explore the relationship between SCN9A gene polymorphism and temporal lobe epilepsy.Methods:Collected peripheral blood of 179 cases of epilepsy patients and 236 cases of normal control, and extracted genomic DNA by kits. The
genotypes for SCN9A polymorphism were determined by polymerase chain reaction-restriction fragment length polymorphism
(PCR-RFLP) Analysis and sequencing. Eevaluated whether there are significantly differences between epilepsy group and control group.Results:The distribution of genotypes and allele frequencies of rs12620053 and rs7588632 loci of SCN9A gene between epilepsy group
and control group are significant differences (P <0.01), while differences of rs2893013 and rs4465779 loci of the SCN9A gene between
epilepsy group and control group are not significant (P > 0.05).Conclusion:rs12620053 and rs7588632 polymorphism of SCN9A gene
were associated with temporal lobe epilepsy. |
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