【摘要】 目的:Mass ARRAY质谱iPLEX分析技术为平台建立适合中国婴儿重症肌阵挛癫痫(SMEI)人群基因检测的方法。方法:通过文献检索并结合国内外研究进展,确定与中国SMEI人群发病密切相关的靶基因。对目的基因突变进行筛选并确定热点突变。按Mass ARRAY突变位点标示方法和引物设计固定格式,引物设计软件在线设计正、反向扩增引物和延伸引物各24条。收集2014年1月至2017年8月深圳市第二人民医院临床3例确诊SMEI患儿外周血样本建立检测方法,与现有聚合酶链式反应(PCR)方法对比。扩大检测25例可疑临床诊断SMEI样本,与直接测序法比较敏感度与特异度。结果:使用本方法检测SMEI细胞系的基因突变,其他结果与SCN1A=NAV1.1试剂盒一致。与直接测序法相比较灵敏度为100%,特异度为96.3%。结论:成功建立Mass ARRAY质谱分析SMEI基因SCN1A突变检测方法,适合中国SMEI人群且具有临床应用前景。更多还原

【Abstract】 Objective Mass ARRAY iPLEX analysis was used as a platform for gene detection with severe myoclonic epilepsy in Chinese infants. Methods Identified related to the incidence of severe myoclonic epilepsy target genes in Chinese infants closely.Target gene mutations were screened and hot spot mutations were identified.According to the MassARRAY mutation site labeling method and primer design fixed format, primer design software online design positive and reverse amplification primers and extended primers 24. Collected blood samples of 3 infants diagnosed with severe myoclonic epilepsy in clinical, compared with the existing PCR methods.The sensitivity and specificity of the direct sequencing method were compared with direct sequencing in 25 cases of suspected clinical diagnosis of infants with severe myoclonic epilepsy. Results gene mutations in the infantile myoclonic epilepsy cell line were detected by this method, and the other results were consistent with the SCN1A=NAV1.1 kit. Compared with direct sequencing, the sensitivity was 100 % and specificity was 96.3 %. Conclusion MassARRAY was a feasibility technology established for the detection of SCN1A gene mutation in infants with severe myoclonic epilepsy.It is suitable for Chinese infants with severe myoclonic epilepsy.更多还原