DYT1 mutations amongst early onset primary dystonia patients in China.
- Author:
Jing-fang YANG
1
;
Jian-yu LI
;
Yong-jie LI
;
Tao WU
;
Yan-li ZHANG
;
Biao CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Base Sequence; Child; China; Chromatography, High Pressure Liquid; DNA Primers; Dystonia; genetics; Female; Humans; Infant; Male; Molecular Chaperones; genetics; Mutation
- From: Chinese Medical Sciences Journal 2008;23(1):38-43
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China.
METHODSThirteen patients with early onset primary torsion dystonia were screened for mutation in exon 5 of the DYT1 gene using denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing, and the results were confirmed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
RESULTSThe GAG deletion mutation which results in Glu302del in exon 5 of the DYT1 gene was found in 5 patients. The detecting results were consistent between with DHPLC and PCR-RFLP. We did not find any other mutations in the DYTI gene.
CONCLUSIONSThe GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia patients in China. The frequency of DYT1 mutation is not significantly different between European and Asian patients with early onset primary dystonia.
