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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 study the polymorphism of IMPA2 gene polymorphism in children with epilepsy with febrile seizures and to explore the relationship between the two. Methods: According to the diagnostic criteria of Epilepsy with febrile seizures in the International Classification of Antiepileptic Alliances, according to the distribution characteristics of IMPA2 in East Asian febrile seizures, 36 children with epilepsy with febrile seizures and 53 children with epilepsy with febrile seizures were collected. In the normal control group, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect two common nucleotide polymorphisms of IMPA2 gene in febrile seizures: 6 Exon 159T> C and exon 2 558C> T for genotype analysis. Results: There was a significant difference in genotype and haplotype distribution of SNP of IMPA2 gene and 159T> C in exon 6 of epilepsy with febrile seizure group and normal control group. CONCLUSION: 159T> C, exon 6 of IMPA2 gene in Hubei Province, may be a susceptible single nucleotide polymorphism in children with epilepsy with febrile seizures.