中国现代医学杂志2017，Vol.27Issue(17)：35-39,5.DOI:10.3969/j.issn.1005-8982.2017.17.007
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
Abstract
Objective 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.关键词
热性惊厥/SCN1A基因/SCN3A基因/筛查Key words
febrile seizures/SCN1A gene/SCN3A gene/screening分类
医药卫生引用本文复制引用
陈勇军,刘稀金,廖卫平,郭静,李欣,易毅利..SCN1A基因突变阴性热性惊厥患者SCN3A基因突变的特点[J].中国现代医学杂志,2017,27(17):35-39,5.基金项目
湖南省教育厅高校科研一般项目(No:15C1206) （No:15C1206）
