摘要
目的:筛查全面性癫痫伴热性惊厥附加症(GEFS+)患者的SCN1A基因,并探讨GEFS+与SCN1A基因的关系。方法:收集60例GEFS+患者及104例正常对照组血样,应用PCR扩增SCN1A基因的26个编码外显子及与mRNA剪接有关的内含子,进行测序筛查。结果:未发现SCN1A基因突变,但发现1个单核苷酸多态性(SNP)位点:EXON14-37A>C(rs2126152),有2种基因型A/C杂合子和C/C纯合子,两组间基因型比较差异无统计学意义(χ2=0.21,P>0.05),等位基因频率的分布差异也无统计学意义(χ2=0.18,P>0.05)。结论:SCN1A基因单核苷酸多态位点EXON14-37A>C与GEFS+无相关性。
Objective： To screen the SCN1A in Chinese patients diagnosed as generalized epilepsy with febrile seizures plus（GEFS＋） and to explore the possible relationship between SCN1A and GEFS＋.Methods：After collection of blood samples from 60 patients with GEFS ＋ and 104 normal control subjects,all 26 coding exons and introns relevant to mRNA splice of SCN1A were amplified with PCR technology and then sequence analysis was performed.Results：No SCN1A mutation was detected but a single nucleotide polymorphism（SNP） was found： EXON14-37AC（rs2126152）.Genotypes and allelic frequencies for the SNP in both groups were not significantly different（P0.05）.Conclusion：Our results indicate that the SNP EXON14-37AC of SCN1A gene might not be one of the susceptibility factors for GEFS＋.
出处
《海南医学院学报》
CAS
2012年第6期731-733,共3页
Journal of Hainan Medical University
基金
国家自然科学基金资助(编号:81071045)
广东省科技计划项目(编号:2011B061300094)~~
