| 宋延民1 龙莉莉2 杨茜2 李海燕2 唐北沙2.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].,2012,12(7):1233-1235 |
| 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* |
| Cloning to Exclude 8 Candidate Genes Locatedin Chromosome 1p36.12～1p35.1 for BFIS |
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| DOI： |
| 中文关键词: 良性家族性婴儿惊厥 候选基因 突变分析 基因克隆 |
| 英文关键词: Benign familial infantile seizure(BFIS) Candidate gene Mutation analysis Gene cloning |
| 基金项目:国家自然科学基金青年项目（30400261） |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| 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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