SCN1A基因突变阴性热性惊厥患者SCN3A 基因突变的特点

Screening of SCN3A gene mutations in SCN1A mutation negative patients with febrile seizures

摘要:

对SCN1A 基因突变阴性的热性惊厥（FS）患者进行3 基因突变筛查，并分析其突变特点。方法应用聚合酶链反应扩增和Sanger 测序方法对38 例入组患者筛查SCN3A 基因突变，采用生物软件分析突变特点。结果2 例错义突变（c.956T>C/p.I319T，c.5179G>A/p.D1727N）；同源性比对分析提示2 例突变均高度保守，在千人基因组计划数据库和100 例正常人中未发现相应的位点改变。结论在SCN1A 基因突变阴性的FS 患者中，发现2 例SCN3A基因突变错义突变，该突变可能具有致病性。

Abstract:

To screen SCN3A gene mutations in patients with febrile seizures but no SCN1A mutation, and to analyze the genetic characteristics. Methods The mutations of SCN3A gene were screened in 38 patients by PCR amplification and Sanger sequencing, and the genetic characteristics of the mutations were analyzed using the biological software. Results Two missense mutations (c.956T>C/p.I319T, c.5179G>A/p. D1727N) were found. And homology comparison analysis suggested that the mutations were highly conserved,and no corresponding locus changes were found in the thousand human genome project database or in 100 normal people. Conclusions There are two missense mutations of SCN3A gene in patients with negative SCN1A mutation, and the SCN3A gene mutations may be pathogenic.