SCN2A基因rs17183814多态位点与癫痫伴热性惊厥附加症的相关性  

Association between the rs17183814 polymorphism in SCN2A gene and epilepsy with febrile seizures plus

作　　者：于美娟[1] 秦兵[2] 高玫梅[1] 党利华[1] 廖卫平[1] 石奕武[1] 

机构地区：[1]广州医学院第二附属医院广州医学院神经科学研究所广东省重点实验室神经遗传与离子通道病省部共建教育部重点实验室,广东广州510260 [2]广东省人民医院神经科,广东广州510060

出　　处：《广州医学院学报》2010年第1期10-13,共4页Academic Journal of Guangzhou Medical College

基　　金：国家自然科学基金（30900451）;广东省医学科研基金（A2008045）;广州医学院第二附属医院博士启动基金（2007-5）.

摘　　要：目的：研究SCN2A基因rs17183814多态位点（R19K）在癫痫伴热性惊厥附加症（epilepsy with febrile seizures plus，EFS＋）患者中的分布并初步探讨R19K与抗癫痫药物反应性的关系。方法：收集广州医学院第二附属医院神经科学研究所35例EFS＋患者为实验组，正常人101例为对照组。收集血样，应用变性高效液相色谱（denaturing high performance liquid chromatography，DHPLC）技术对SCN2A基因的第2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：实验组的基因型频率和等位基因频率与正常对照组比较，差异无统计学意义（P〉0．05）；实验组中难治性癫痫患者的基因型频率与非难治性癫痫患者相比，差异无统计学意义（P〉0．05）。结论：SCN2A基因rs17183814多态位点与EFS＋无相关性，与抗癫痫药物反应性也无相关性。Objective：To determine the frequency of polymorphism site rs17183814 of SCN2A gene in patients with epilepsy with febrile seizures plus （ EFS ＋ ） and explore the association of this polymorphism with antiepileptic drug treatment. Methods： After collecting blood samples, we screened the second exon of SCN2A gene with denaturing high performance liquid chromatography （DHPLC） technology and then sequence analysis was performed on those with abnormal elution peaks. Results： For this polymorphism, there was no significant difference in both genotype frequency and allele frequency between the two groups. Also there was no significant difference between uncontrolled epilepsy and well-controlled epilepsy （P 〉 0.05）. Conclusion： There is no association between the locus of rs17183814 in the SCN2A gene and Chinese patients with EFS ＋. Also this polymorphism was not associated with uncontrolled epilepsy.

关 键 词：热性惊厥 癫痫 SCN2A 单核苷酸多态性 

分 类 号：R394[医药卫生—医学遗传学]