Abstract:
:The ubiquitin carboxy-terminal hydrolase L1gene (UCH-L1) has been implicated in the aetiology of Parkinson's disease (PD). A rare Ile93Met mutation in UCH-L1 in a German PD sib-pair has been reported. Recently, a S18Y (C54A) polymorphism in exon 3 of UCH-L1 was found to be under-represented in PD patients compared to controls. To test the reproducibility of this negative association, we conducted an allele-association study of the S18Y polymorphism in an Australian case-control sample consisting of 142 PD cases and 142 closely matched control subjects. Genotypes were determined using polymerase chain reaction and RsaI restriction enzyme assay. Analysis revealed no significant difference between PD patients and controls for genotype or allele frequencies of the S18Y polymorphism. The frequency of the S18Y allele in Australian subjects is similar to that reported elsewhere. This study suggests that the S18Y polymorphism in UCH-L1 does not influence the risk for developing PD.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Mellick GD,Silburn PAdoi
10.1016/s0304-3940(00)01510-xkeywords:
subject
Has Abstractpub_date
2000-10-27 00:00:00pages
127-30issue
2eissn
0304-3940issn
1872-7972pii
S0304-3940(00)01510-Xjournal_volume
293pub_type
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