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目的对有热性惊厥(FS)和(或)癫家族史的儿童失神癫(CAE)患儿进行γ氨基丁酸A型(GABAA)受体γ2亚单位基因(GABRG2)进行突变筛查,探讨GABRG2基因是否是CAE的易感基因。方法收集30例有FS和(或)癫家族史的CAE患儿(男17例,女13例;发病年龄3岁～10岁6个月)的家系资料,采集患儿及患儿父母的外周血并抽提DNA,采用PCR和DNA直接测序法对其GABRG2基因进行突变筛查。结果30例有FS和(或)癫家族史的患儿家系中,共有71例受累者。其中仅表现为FS16例,CAE30例(其中6例有FS病史,12例有FS家族史,15例有癫家族史,3例同时有FS和癫家族史),失神发作7例(其中3例失神发作前有FS病史),分类不明的癫18例。30例CAE患儿均未发现GABRG2基因突变,但发现4个单核苷酸多态性(SNP),其中315T>C、208T>C和588C>T为已知的SNP,IVS+8C>A为新发现的SNP。结论有FS和(或)癫家族史的CAE患儿,GABRG2基因不是其主要易感基因。
Objective To screen GABAA receptor gamma 2 subunit gene (GABRG2) in children with absence of seizure (CAE) and family history of febrile seizures (FS) and / or epilepsy , To investigate whether GABRG2 gene is a susceptibility gene of CAE. Methods Thirty children with CAF (family history of FS and / or epilepsy), including 17 males and 13 females, with a family history of FS and / or epilepsy, were collected. Pedigree data of children aged 3 to 10 years old were collected. Peripheral blood and DNA extraction, PCR and DNA direct sequencing of its GABRG2 gene mutation screening. Results Thirty cases of pediatric pedigrees with a family history of FS and / or epilepsy were found in 71 patients. Among them, only FS16 cases and CAE30 cases (6 cases had FS history, 12 cases had FS family history, 15 cases had family history of epilepsy, 3 cases had family history of FS and epilepsy), 7 cases of absence episode 3 cases of absence of preoperative FS history), unknown classification of 18 cases of epilepsy. No mutation of GABRG2 gene was detected in 30 cases of CAE, but 4 single nucleotide polymorphisms (SNPs) were found. Among them, 315T> C, 208T> C and 588C> T were known SNPs, while IVS + 8C> A For the newly discovered SNP. Conclusions GABRG2 is not the major predisposing gene in children with CAE with family history of FS and / or epilepsy.