| 定位于1p36.12～1p35.1 的良性家族性婴儿惊厥家系
8 个候选基因的排除克隆* |
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| 引用本文： | 宋延民,龙莉莉,杨茜,李海燕,唐北沙.定位于1p36.12～1p35.1 的良性家族性婴儿惊厥家系
8 个候选基因的排除克隆*[J].现代生物医学进展,2012,12(7):1233-1235. |
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| 作者姓名： | 宋延民 龙莉莉 杨茜 李海燕 唐北沙 |
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| 作者单位： | 1. 湖南省老年医院神经内科 湖南长沙410016
2. 中南大学湘雅医院神经内科 湖南长沙410008 |
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| 基金项目： | 国家自然科学基金青年项目(30400261) |
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| 摘 要： | 目的:克隆定位于1p36.12～1p35.1上微卫星标志D1S2864和D1S2830之间12.4cM的区间内的腓骨肌萎缩症2L型的致病基因。方法:应用生物信息学方法筛选8个候选基因(NHE1、SMN、STX12、OX1R、BDR2、DHHC18、FLJ10315和SESN2),设计合成扩增8个基因外显子及外显子与内含子交界的引物,DNA直接测序法进行序列变异分析。结果:未发现与BFIS共分离的致病突变,但发现3个已知的多态。结论:排除了8个候选基因为该BFIS致病基因的可能。
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| 关 键 词： | 良性家族性婴儿惊厥 候选基因 突变分析 基因克隆 |
Cloning to Exclude 8 Candidate Genes Located in Chromosome 1p36.12～1p35.1 for BFIS |
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| SONG Yan-min,LONG Li-li,YANG Qian,LI Hai-yan,Tang Bei-sha.Cloning to Exclude 8 Candidate Genes Located in Chromosome 1p36.12～1p35.1 for BFIS[J].Progress in Modern Biomedicine,2012,12(7):1233-1235. |
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| Authors: | SONG Yan-min LONG Li-li YANG Qian LI Hai-yan Tang Bei-sha |
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| Institution: | 1 Department of Neurology,Hunan Province Geriatric Hospital;Changsha,410016,China; 2 Department of Neurology,Xiangya Hospital of Central South University,Changsha,410008,China) |
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| Abstract: | Objective: To clone the disease-causing genes which was possibly existed in 12.4 cM distance between microsatellite markers D1S2864 and D1S2830 in chromosome 1p36.12～1p35.1 for benign familial infantile seizure(BFIS).Methods: 8 positional and functional candidate genes(NHE1,SMN,STX12,OX1R,BDR2,DHHC18,FLJ10315 and SESN2)were chosen among all known genes in this locus region by bioinformatics inqury.Mutation detection was performed by sequencing the exons and intron-exon junctions of the candidate genes.Results: There was no disease causative mutation,while 3 polymorphisms was identified.Conclusion: The candidate genes were excluded from disease gene for the BFIS family. |
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| Keywords: | Benign familial infantile seizure(BFIS) Candidate gene Mutation analysis Gene cloning |
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