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目的筛查癫痫伴热性惊厥附加症(EFS+)患者的SCN2A基因,并探讨癫痫伴热性惊厥附加症与SCN2A基因的关系。方法收集35例患者及正常对照组血样,应用变性高效液相色谱(DHPLC)技术对SCN2A基因的26个编码外显子及与mRNA剪接有关的内含子进行筛查,对发现异常洗脱峰者进行测序并分析结果。结果未发现基因突变,但发现9个单核苷酸多态性(SNP)位点,其中仅有EXON9-3nt和EXON23-31nt两个位点在两组各总体率的分布差异有统计学意义(P<0.05)。结论 SCN2A基因内含子SNP位点EXON9-3nt和EXON23-31nt可能是EFS+患者的易感SNP位点。
Objective To screen SCN2A gene in patients with epilepsy with febrile seizures (EFS +) and to investigate the relationship between SCN2A gene and epilepsy with febrile seizures. Methods Blood samples were collected from 35 patients and normal control group. 26 coding exons of SCN2A gene and intron related to mRNA splicing were screened by denaturing high performance liquid chromatography (DHPLC), and abnormal elution peaks Who sequenced and analyzed the results. Results No gene mutation was found, but 9 single nucleotide polymorphism (SNP) loci were found. There were significant differences in the overall distribution of the two loci between EXON9-3nt and EXON23-31nt (P <0.05). Conclusion The intron SNPs of SCN2A gene EXON9-3nt and EXON23-31nt may be susceptible SNPs in patients with EFS +.