title: [Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
abstract: OBJECTIVE
  To detect mutations of guanosine triphosphate cyclohydrolase I (GCH1) gene in Chinese patients with dopa responsive dystonia (DRD).
  
  
  METHODS
  Six sporadic patients with DRD were examined. GCH1 gene mutations were detected using polymerase chain reaction (PCR), DNA sequence analysis and restriction enzyme digestion analysis. One hundred normal people were detected using PCR and restriction enzyme digestion analysis.
  
  
  RESULTS
  A new point mutation, 151(G-->A) in exon one was found in a patient. It lead to substitution of a methionine for isoleucine at amino acid 1(M1I). This mutation was not found in normal control people.
  
  
  CONCLUSIONS
  The authors report a new heterozygotic point mutation 151(G-->A) in GCH1 gene. There are GCH1 gene mutations in Chinese sporadic patients with DRD.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Yu-hu
authors.initials: YH
authors.lastname: Zhang
authors.forename: Zhi-guo
authors.initials: ZG
authors.lastname: Xie
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Xue-wei
authors.initials: XW
authors.lastname: Zhang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D004421:Dystonia / Q000188:drug therapy* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004295:Dihydroxyphenylalanine; D004247:DNA; D006136:GTP Cyclohydrolase