title: An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease.
abstract: OBJECTIVE
  To ascertain whether a coding mutation (Ile93Met) in ubiquitin carboxy-terminal hydrolase (UCH-L1) gene plays a role in idiopathic Parkinson's disease (IPD).
  
  
  METHODS
  Polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP) was used to distinguish the wild-type (two DNA fragments of 34 and 126 bp) from the variant allele (three fragments of 34, 60 and 66 bp) because the mutation created a new site for restriction endonuclease BsmF1. DNA was isolated from various blood samples using a phenolchloroform extraction.
  
  
  RESULTS
  Ile93Met substitution was found neither in PD patients nor in controls.
  
  
  CONCLUSIONS
  Our study suggested that Ile93Met of UCH-L1 gene did not influence risk of IPD.
authors.affiliation: Department of Internal Medicine, Second Affiliated Hospital, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China.
authors.forename: Qiaoyun
authors.initials: Q
authors.lastname: Shi
authors.forename: Enxiang
authors.initials: E
authors.lastname: Tao
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D013869:Thiolester Hydrolases / Q000235:genetics* / Q000502:physiology; D043222:Ubiquitin Thiolesterase
chemical_list: D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase