Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases
Mutations in GNAL gene in 214 cases with isolated dystonia
First author：Lingyan Ma
Corresponding author：Xinhua Wan
essential_information
- Person in charge：Lingyan Ma
- Data Sources： OTHERS
- Number of papers：OTHERS20190305
- Published time：2015-11-01
2015-11-01
Published articles
Journal：Parkinsonism & Related Disorders
Publication type: Clinical Article
IF(IF): 4.891
PMID: 26365774 Link To Pubmed Full text Download
Background And Purpose
Method
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.
Conclusion
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.
Main results
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.