中华医学杂志（英文版）2003，Vol.116Issue(2)：312-313,2.
An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease
An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease
石巧云 1陶恩祥2
作者信息
- 1. Department of Internal Medicine, Seco nd Affiliated Hospital, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China
- 2. Department of Neurology, Seco nd Affiliated Hospital, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China
- 折叠
摘要
Abstract
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 . 关键词
genetics/Parkinson's disease/ubiquitin carboxy-terminal hydrolase L1/Ile93MetKey words
genetics/Parkinson's disease/ubiquitin carboxy-terminal hydrolase L1/Ile93Met分类
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石巧云,陶恩祥..An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease[J].中华医学杂志（英文版）,2003,116(2):312-313,2.
