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

作　　者：刘祥琴[1] 马勋泰 杜琼[1] 晏宁[3] 

机构地区：[1]四川省医学科学院/四川省人民医院检验科,成都610071 [2]西南医科大学附属医院神经内科,四川泸州646000 [3]重庆医科大学附属大学城医院神经内科,401331

出　　处：《重庆医学》2016年第10期1348-1349,1352,共3页Chongqing medicine

基　　金：重庆市自然科学基金项目(cstc2012jjA10093);四川省人民医院青年基金项目[省医行(2014)94号]

摘　　要：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.

关 键 词：先兆偏头痛 基因 CACNA1A 点突变 

分 类 号：R747.2[医药卫生—神经病学与精神病学]