| 儿童失神癫GABRG2基因突变筛查 |
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| 引用本文： | 马秀伟,张月华,孙慧慧,潘虹,吴沪生,许克铭,吴希如. 儿童失神癫GABRG2基因突变筛查[J]. 实用儿科临床杂志, 2010, 0(7) |
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| 作者姓名： | 马秀伟 张月华 孙慧慧 潘虹 吴沪生 许克铭 吴希如 |
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| 作者单位： | 北京大学第一医院儿科;中国人民解放军北京军区总医院附属八一儿童医院神经科;首都医科大学附属北京儿童医院神经内科;首都儿科研究所神经内科; |
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| 摘 要： | 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。
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| 关 键 词： | 失神癫 GABRG2基因 突变 单核苷酸多态性 儿童 |
Mutation Screening of GABRG2 Gene in Children with Absence Epilepsy |
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| MA Xiu-wei,,ZHANG Yue-hua,SUN Hui-hui,PAN Hong,WU Hu-sheng,XU Ke-ming,WU Xi-ru. Mutation Screening of GABRG2 Gene in Children with Absence Epilepsy[J]. Journal of Applied Clinical Pediatrics, 2010, 0(7) |
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| Authors: | MA Xiu-wei ZHANG Yue-hua SUN Hui-hui PAN Hong WU Hu-sheng XU Ke-ming WU Xi-ru |
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| Affiliation: | MA Xiu-wei1,2,ZHANG Yue-hua1,SUN Hui-hui1,PAN Hong1,WU Hu-sheng3,XU Ke-ming4,WU Xi-ru1(1.Department of Pediatrics,Peking University First Hospital,Beijing 100034,China,2.Department of Neurology,Bayi Children's Hospital Affiliated to The Military General Hospital of Beijing PLA,Beijing 100700,3.Department of Neurology,Beijing Children's Hospital Affiliated to Capital Medical University,Beijing 100045,4.Department of Neurology,Capital Institute of Pediatrics,Beijing 100020,China) |
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| Abstract: | Objective To investigate whether or not GABAA receptor gamma 2 subunit gene (GABRG2) was the susceptibility gene for childhood absence epilepsy(CAE) patients with family history of febrile seizures (FS) and(or) epilepsy.Methods The clinical data of 30 CAE patients(including 17 boys and 13 girls,whose age of onset was 3 years to 10 years and 6 months) and their family members were reviewed.All CAE patients had family history of FS and(or) epilepsy.The genomic DNA was extracted from peripheral blood lymphocyt... |
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| Keywords: | absence epilepsy GABRG2 gene mutation single nucleotide polymorphism child |
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