癫痫伴热性惊厥附加症患儿IMPA2基因单核苷酸多态性相关性研究  

Relationship Between Epilepsy Children with Febrile Seizures Plus and IMPA2 Gene Single Nucleotide Polymorphisms

作　　者：赵峰[1] 郑昆[1] 柯晓燕[1] 赵东赤[2] 王大斌[1] 

机构地区：[1]湖北医药学院附属太和医院儿童医疗中心Ⅰ病区,湖北十堰442000 [2]武汉大学中南医院儿科,湖北武汉430071

出　　处：《武汉大学学报（医学版）》2013年第1期64-66,共3页Medical Journal of Wuhan University

摘　　要：目的:对癫痫伴热性惊厥附加症患儿进行IMPA2基因多核苷酸多态性研究,探讨两者关系。方法:根据国际抗癫痫联盟综合征分类中癫痫伴热性惊厥附加症诊断标准,参照IMPA2基因型东亚热性惊厥人群分布特点,收集鄂西北地区36例癫痫伴热性惊厥附加症患儿与53例正常对照组患儿,采用聚合酶链式反应-限制性片段长度多态性分析法(PCR-RFLP),分别选取IMPA2基因热性惊厥两个常见单核苷酸多态性位点:6号外显子位点159T>C和2号外显子位点558C>T进行基因型分析。结果:癫痫伴热性惊厥附加症组与正常对照组在IMPA2基因SNP基因型和单倍体分布上,6号外显子位点159T>C存在统计学差异。结论:鄂IMPA2基因6号外显子位点159T>C可能是鄂西北地区癫痫伴热性惊厥附加症患儿的易感单核苷酸多态性位点。Objective： To explore the relationship between the IMPA2 gene nucleotide polymorphisms and the children＇s epilepsy with febrile seizures plus （EFS＋） disease. Methods. According to the International League Against Epilepsy syndrome classification of EFS ＋ diagnostic criteria and the reference to the IMPA2 genotype in East Asia febrile seizures（FS） population distribution characteristics, two common single nucleotide polymorphisms were selected in IMPA2 gene： exon 6 point 159T〉C and exon 2 point 558C〉T genotype analysis, and 36 children of epilepsy with EFS＋ and 53 cases of healthy children were involved in this study and underwent the examination of polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） in north-west of Hubei province in China. Results： There was significant difference between EFS＋ group and normal control group in the IMPA2 on gene SNP genotyping and haploid distribution to exon 6 point 159T〉C. Conclusion： IMPA2 gene exon 6 site 159T〉C may be the susceptible SNP of children with epilepsy with febrile seizures plus syndrome in this area.

关 键 词：癫痫伴热性惊厥附加症 IMPA2基因 单核苷酸多态性 

分 类 号：R725[医药卫生—儿科]