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

二维码有效期 120s

摘要Objective To ascertain whether a coding mutation (Ile93Met) in ubiquitin carbo xy-terminal hydrolase (UCH-L1) gene plays a role in idiopathic Parkinson's di sease (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 m utation 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 .

作者 石巧云 ^[1] 陶恩祥 ^[2] 学术成果认领

作者单位 Department of Internal Medicine, Seco nd Affiliated Hospital, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China ^[1] Department of Neurology, Seco nd Affiliated Hospital, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China ^[2]

关键词 genetics Parkinson's disease ubiquitin carboxy-terminal hydrolase L1 Ile93Met

分类号 R74

栏目名称 BRIEF REPORTS

发布时间 2004-01-08

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