SCN1A基因Exons7-21C>T多态位点与全面性癫痫伴热性惊厥附加症相关性研究  

Association between Polymorphism of Exon 7-21C>T in SCN1A and Generalized Epilepsy with Febrile Seizures Plus Patients

作　　者：高玫梅[1] 秦兵[2] 石奕武[1] 于美娟[1] 邓维意[1] 廖卫平[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) [2]广东省人民医院神经科,广州510260

出　　处：《热带医学杂志》2010年第5期582-584,601,共4页Journal of Tropical Medicine

基　　金：国家自然科学基金(No.30900451);广东省医学科研基金(No.A2008045)

摘　　要：目的研究SCN1A基因Exon7-21C>T多态位点在全面性癫痫伴热性惊厥附加症患者中的分布。方法中国汉族人中收集155例全面性癫痫伴热性惊厥附加症患者和135例正常人标本,采用聚合酶链反应-变性高效液相色谱法检测SCN1A基因的第7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应用SPSS11.5分析结果。结果 135例正常人中,SCN1A Exon7-21C>TCC、CT、TT基因型频率分别为:0.474、0.444、0.082,C、T等位基因频率分别为:0.696、0.304。155例全面性癫痫伴热性惊厥附加症患者中,SCN1AExon7-21C>TCC、CT、TT基因型频率分别为:0.490、0.439、0.071,C、T等位基因频率分别为:0.710、0.290。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)。结论 SCN1A基因单核苷酸多态位点Exon7-21C>T与全面性癫痫伴热性惊厥附加症无相关性。Objective To determine the frequency of polymorphism Exon 7 -21 C〉T of SCN1A gene in patients with generalized epilepsy with febrile seizures plus （GEFS＋）in China（han）. Methods A total of 155 Chinese （han） children with GEFS＋ and 135 normal control subjects were included in the study. A PCR amplicons including the 7 exon and flanking intronie splice site have been screened by denaturing high performance liquid chromatography （DHPLC）. For those with abnormal elution peak, direct sequence analysis was performed. SPSS 11.5 was used to determine the difference between the two groups. Results In normal group, SCN1A Exon 7 -21 C〉T： CC, CT and TY genotype frequencies were 0.474, 0.444 and 0.082, respectively. SCN1A Exon 7 -21 C〉T C and G Gene frequencies were 0.696, 0.304, respectively; while in GEFS＋ group, SCN1A Exon 7 -21 C〉T： CC, CT and TY genotype frequencies were 0.490, 0.439 and 0.071, respectively. SCN1A Exon 7 -21 C〉T C and G Gene frequencies were 0.710 and 0.290, respectively. The results showed that genotypes and allelic frequencies for the SCN1A gene polymorphisms in both groups were not significantly different. Conclusion Our study suggests that the SCN1A single nucleotide polymorphism（SNP） Exon 7 -21 C〉T might not be one of the susceptibility factors for GEFS＋.

关 键 词：SCN1A基因 Exons7-21C〉T 单核苷酸多态性 全面性癫痫伴热性惊厥附加症 

分 类 号：R742.1[医药卫生—神经病学与精神病学]