新的良性家族性婴儿惊厥候选基因的突变筛查  

Mutation screening of 5 candidate genes for one Chinese benign familial infantile convulsion family with anovel locus

作　　者：向入平[1] 资晓宏[2] 余辉云[1] 万燕[1] 禹小杜[1] 

机构地区：[1]湖南师范大学附属长沙市第四医院神经内科,410006 [2]中南大学湘雅三医院神经内科

出　　处：《中华临床医师杂志（电子版）》2013年第1期79-82,共4页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的 为了克隆新的良性家族性婴儿惊厥（BFIC）致病基因,我们采用功能-候选克隆的方法,在已精确定位于1p36.12 ～ 35.1上D1S2864和D1S2830之间约12.4 cM的区域内,筛选了5个候选基因进行突变分析.方法 根据癫痫的病理生理机制、已克隆特发性癫痫致病基因特点以及结合该区域内各基因的生物学信息,筛选了GPATC3、SESN2、SFN、TAF12、TCEA3作为候选基因,应用聚合酶链反应（PCR）及DNA直接测序的方法进行基因突变分析.结果 在该BFIC家系中,5个候选基因的突变检测未发现任何致病突变,但发现了5个多态,其中TCEA3基因的IVS1-122C→A为新发现的多态.结论 排除了这5个基因为该BFIC家系致病基因的可能,为进一步功能候选克隆工作奠定了基础.Objective In order to clone the new disease gene for BFIC,we used the approach of functionalcandidate cloning and selected 5 candidate genes in chromosome 1p36.12-1p35.1 for mutation analysis.Methods Through looking up bioinforrnatics of all known genes in the locus interval,we chosed 5 candidate genes （GPATC3,SESN2,SFN,TAF12,TCEA3） according to the pathogenesis of idiopathic epilepsy and the features of already cloned disease-causing genes for epilepsy.By polymerase chain reaction（PCR） and DNA direct sequencing,we performed mutation analysis of the 5 genes in the Chinese family.Results No mutation of the 5 candidate genes was found to cause BFIC in the family.Five single nucleotide polymorphisms （SNPs） was detected,among which IVS1-122C→A in TCEA3 was a novel SNP.Conclusions The five candidate genes are unlikely involved in the pathogenesis of the Chinese BFIC family with the novel BFIC locus.

关 键 词：癫痫 正常新生儿 DNA突变分析 候选基因 

分 类 号：R720.597[医药卫生—急诊医学]