Objective To investigate the relationship between familial hemiplegic migraine (FHM ) with the mutation of CACNA1A gene .Methods Total genomic DNA of a family affected members and 1 000 normal controls was extracted for conduc‐ting the CACNA1A gene sequencing research and the bioinformatics analysis .Results The novel mutation site c .1168A>G of ex‐on located in CACNA1A gene led to Asn to be replaced with Asp (N390D) .Conclusion The mutation(N390D) of CACNA1A gene is a newly found novel pathogenic mutation lead to familial hemiplegic migraine .%目的:探索家族性偏瘫性偏头痛(FHM )与CACNA1A基因突变的关系。方法通过提取一家系患者和健康人及1000例健康对照组DNA进行CACNA1A基因测序研究,并进行生物信息学分析。结果位于CACNA1A基因的8号外显子的新突变位点(c .1168A> G)导致天门冬酰胺替换为天冬氨酸(N390D)。结论 CACNA1A基因突变 N390D是新发现的引起FHM的致病突变因素。
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