[1]张谦 刘雅萍① 张东 王嵘 张岩 于兰冰 张学① 赵继宗**.中国烟雾病患者主动脉平滑肌肌动蛋白α2基因编码区的研究[J].中国微创外科杂志,2015,15(11):849-851.
 Zhang Qian*,Liu Yaping,Zhang Dong*,et al.Analysis of Coding Exon of ACTA2 in Chinese Patients with Moyamoya Disease[J].Chinese Journal of Minimally Invasive Surgery,2015,15(11):849-851.
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中国烟雾病患者主动脉平滑肌肌动蛋白α2基因编码区的研究()
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《中国微创外科杂志》[ISSN:1009-6604/CN:11-4526/R]

卷:
15
期数:
2015年11期
页码:
849-851
栏目:
经验交流
出版日期:
2015-11-20

文章信息/Info

Title:
Analysis of Coding Exon of ACTA2 in Chinese Patients with Moyamoya Disease
作者:
张谦 刘雅萍① 张东 王嵘 张岩 于兰冰 张学① 赵继宗**
(首都医科大学附属北京天坛医院神经外科,北京100050)
Author(s):
Zhang Qian* Liu Yaping Zhang Dong* et al.
*Department of Neurosurgery, Beijing Tiantan Hospital of Capital Medical University, Beijing 100050, China
关键词:
烟雾病 ACTA2基因易感基因
Keywords:
Moyamoya diseaseActin alpha 2(ACTA2)Susceptible gene
分类号:
R743
文献标志码:
B
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。
Abstract:
ObjectiveTo study variations of the coding exons of ACTA2 (actin alpha 2) and to investigate the genetic susceptibility in Chinese patients with moyamoya disease. MethodsA 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.ResultsWe were not able to detect any previously described mutations in ACTA2 in 132 Chinese patients with moyamoya disease. ConclusionACTA2 is not a major genetic susceptible gene for Chinese patients with moyamoya disease.

参考文献/References:

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备注/Memo

备注/Memo:
基金项目:首都临床特色应用研究(项目编号:Z13110200680000)**通讯作者,E-mail:zhaojz205@163.com①(中国医学科学院基础医学研究所医学遗传学系,北京100005)
更新日期/Last Update: 2016-02-03