国家神经系统疾病临床医学研究中心数据管理与共享系统
Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases
基本信息
- 负责人：Lingyan Ma
- 数据来源： OTHERS
- 论文编号：OTHERS20190305
- 发表时间：2015-11-01
2015-11-01
已发表文章
发表杂志：Parkinsonism & Related Disorders
发表类型: Clinical Article
影响因子(IF): 4.891
PMID: 26365774 Pubmed原文链接 全文下载
主要研究背景及目的
方法
To explore the frequency and spectrum of GNAL mutation in Chinese subjects with idiopathic dystonia, we performed mutation screening of GNAL in 214 patients and 100 healthy controls. We used Polymerase chain reactions (PCR) to amplify DNA fragments of 12 exons and 50UTR region of GNAL and mutational screening was performed by sequencing. We were able to exclude the TOR1A GAG deletion and THAP1 mutation in all cases. Control DNA samples were obtained from 100 Chinese unrelated healthy individuals.
结论
In conclusion, our work suggests that mutations in the GNAL gene may not be a common cause of isolated dystonia, at least in the Chinese population.
主要结果
In conclusion, our work suggests that mutations in the GNAL gene may not be a common cause of isolated dystonia, at least in the Chinese population.