An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease.
- Author:
Qiaoyun SHI
1
;
Enxiang TAO
Author Information
- Publication Type:Journal Article
- MeSH: Aged; Amino Acid Substitution; Female; Humans; Male; Middle Aged; Mutation; Parkinson Disease; genetics; Thiolester Hydrolases; genetics; physiology; Ubiquitin Thiolesterase
- From: Chinese Medical Journal 2003;116(2):312-313
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo ascertain whether a coding mutation (Ile93Met) in ubiquitin carboxy-terminal hydrolase (UCH-L1) gene plays a role in idiopathic Parkinson's disease (IPD).
METHODSPolymerase 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.
RESULTSIle93Met substitution was found neither in PD patients nor in controls.
CONCLUSIONSOur study suggested that Ile93Met of UCH-L1 gene did not influence risk of IPD.
