title: DYT1 mutations amongst early onset primary dystonia patients in China.
abstract: 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.
authors.affiliation: Department of Neurobiology, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053.
authors.forename: Jing-fang
authors.initials: JF
authors.lastname: Yang
authors.forename: Jian-yu
authors.initials: JY
authors.lastname: Li
authors.forename: Yong-jie
authors.initials: YJ
authors.lastname: Li
authors.forename: Tao
authors.initials: T
authors.lastname: Wu
authors.forename: Yan-li
authors.initials: YL
authors.lastname: Zhang
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
mesh_terms: 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
chemical_list: D017931:DNA Primers; D018832:Molecular Chaperones; C108175:TOR1A protein, human