【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。更多还原

【Abstract】 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 intronic 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 TT 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 TT 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+.更多还原