论文摘要
背景良性家族性婴儿惊厥（Benign familial infantile convulsions，BFIC或benign familial infantile seizures，BFIS）是一种较为罕见的呈常染色体显性遗传特发性癫痫综合征。临床特点为3～12个月出现的、2～5岁自行消失的、预后良好的无热性癫痫发作，精神运动发育无异常，血生化检查、发作间期脑电图及神经影像学检查正常。分子遗传学研究发现BFIC具有遗传异质性，目前已定位3个致病基因位点，分别为19q12-13.1、16p12-q12及2q24，但其致病基因尚未克隆。前期工作中，我们通过对中国湖南省BFIC大家系进行全基因组扫描、连锁分析，将该家系的致病基因精确定位于1p36.12-35.1上D1S2864和D1S2830之间约12.4cM的区域内，为一个新的染色体位点。目的为了克隆这一新的BFIC致病基因，我们采用功能-候选克隆的方法，在该定位区间内筛选5个候选基因进行突变分析。方法根据癫痫的病理生理发病机制、已克隆特发性癫痫致病基因特点，结合该区域内各基因的生物学信息，筛选了ATPIF1、WASF2、TXLNA PDIK1L、GALE作为候选基因，应用聚合酶链反应（PCR）结合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个侯选基因的突变检测未发现任何致病突变。共发现5个多态，分别为：ATPIF1基因的IVS1-19A→G、IVS3-69A→G、IVS3-96A→G；WASF基因的1047A→G；GALE基因的IVS10+13G→A，其中GALE基因的IVS10+13G→A为新发现的多态。TXLNA和PDIK1L基因未发现任何序列变异。结论1．排除了ATPIF1、WASF2、TXLNA、PDIK1L、GALE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。2．共发现5个单核苷酸多态，其中GALE基因IVS10+13G→A为新发现的SNP。
论文目录
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标签：良性家族性婴儿惊厥论文; 候选基因论文; 突变分析论文;