癫痫伴热性惊厥附加症患者SCN2A基因突变的筛查

Screening the SCN2A gene for mutations in patients with epilepsy with febrile seizures plus

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 the SCN2A gene in Chinese patients diagnosed as having epilepsy with febrile seizures plus（EFS ＋） and to explore the possible relationship between the SCN2A gene and EFS ＋.Methods After collecting blood samples,all 26 coding exons and introns relevant to mRNA splice of SCN2A gene were screened with denaturing high performance liquid chromatography（DHPLC） technology and then sequence analysis was perfrmed on those with abnormal elution peaks.Results We did not detect gene mutation but found 9 single nucleotide polymorphisms（SNPs）.There was a difference in allele frequency of SCN2A introns SNP EXON9-3nt and EXON23-31 nt between the two groups（P 0.05）.Conclusion Intron SNPs EXON9-3nt and EXON23-31nt in SCN2A gene are possibly associated with EFS ＋.