An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease.
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.
Shi
Qiaoyun
Q
Department of Internal Medicine, Second Affiliated Hospital, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China.
Tao
Enxiang
E
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
D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase