An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease

Chin Med J (Engl). 2003 Feb;116(2):312-3.

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.

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Parkinson Disease / genetics*
  • Thiolester Hydrolases / genetics*
  • Thiolester Hydrolases / physiology
  • Ubiquitin Thiolesterase

Substances

  • Thiolester Hydrolases
  • Ubiquitin Thiolesterase