家族性偏瘫性偏头痛CACNA1A基因新突变的研究

Study on novel mutation of CACNA1A gene in 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1 000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。

Objective To investigate the relationship between familial hemiplegic migraine（FHM）with the mutation of CACNA1 Agene.Methods Total genomic DNA of a family affected members and 1 000 normal controls was extracted for conducting the CACNA1 Agene sequencing research and the bioinformatics analysis.Results The novel mutation site c.1168AG of exon located in CACNA1 Agene led to Asn to be replaced with Asp（N390D）.Conclusion The mutation（N390D）of CACNA1 Agene is a newly found novel pathogenic mutation lead to familial hemiplegic migraine.