【摘要】 目的探讨主动脉平滑肌肌动蛋白α2(actin alpha 2,ACTA2)编码区基因多态性/突变与中国烟雾病患者遗传易感性的关系。方法我院2012年6月~2013年5月经脑血管造影或磁共振血管造影检查明确诊断132例烟雾病,抽取患者的静脉血,通过聚合酶链式反应Sanger方法对外显子2~9进行直接测序分析ACTA2编码区多态性及罕见突变,对比分析人类基因突变数据库中报道的ACTA2基因突变。结果 132例中国烟雾病ACTA2基因编码区未检测到突变。结论ACTA2基因不是中国烟雾病患者的主要易感基因。更多还原

【Abstract】 Objective To study variations of the coding exons of ACTA2( actin alpha 2) and to investigate the genetic susceptibility in Chinese patients with moyamoya disease. Methods A total of 132 blood samples from Chinese patients with moyamoya disease were collected. The eight coding exons and flanking intronic regions of ACTA2 were amplified and sequenced.Pathogenic mutation of ACTA2 reported in the Human Gene Mutation Database was summarized. Results We were not able to detect any previously described mutations in ACTA2 in 132 Chinese patients with moyamoya disease. Conclusion ACTA2 is not a major genetic susceptible gene for Chinese patients with moyamoya disease.更多还原