DYT1 mutations amongst early onset primary dystonia patients in China.
OBJECTIVE
To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China.


METHODS
Thirteen 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).


RESULTS
The 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.


CONCLUSIONS
The 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.
Yang
Jing-fang
JF
Department of Neurobiology, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053.
Li
Jian-yu
JY
Li
Yong-jie
YJ
Wu
Tao
T
Zhang
Yan-li
YL
Chen
Biao
B
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002681:China; D002851:Chromatography, High Pressure Liquid; D017931:DNA Primers; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation
D017931:DNA Primers; D018832:Molecular Chaperones; C108175:TOR1A protein, human