【摘要】 目的对难治性颞叶癫痫(TLE)患者钠离子通道SCN1A基因进行序列分析,查找突变位点。方法采用聚合酶链反应及测序技术对10例难治性TLE患者和50例健康者进行SCN1A基因26个外显子和部分侧翼内含子序列分析。结果 1例患者SCN1A基因外显子10检出1个同义突变c.1410T>C。在所有标本中另检出4个碱基突变,即c.1212A>G、c.965-21C>T、c.1028+21T>C和c.1377+52G>A。结论经查阅国内外相关文献及SCN1A突变数据库,c.1410T>C为新发现的突变,其他4个碱基突变为多态性。更多还原

【Abstract】 Objective To identify the SCN1A gene mutation in patients with intractable temporal lobe epilepsy(TLE).Methods Ten patients with intractable TLE and 50 healthy subjects were enrolled and detected for SCN1A mutation among twenty-six exons and the flank introns by polymerase chain reaction and sequencing.Results A synonymous mutation(c.1410 T>C) was identified in one patient,and four variants,including c.1212 A>G,c.965-21 C>T,c.1028+21 T>C and c.1377+52 G>A,were identified in all enrolled subjects.Conclusion According to the SCN1A variant database,c.1410 T>C might be a novel synonymous mutation,and other four variants could be polymorphisms.更多还原