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An Ile93Met substitution in the UCH-L1 gene is not a disease-causin g mutation for idiopathic Parkinson's disease 被引量:4

An Ile93Met substitution in the UCH-L1 gene is not a disease-causin g mutation for idiopathic Parkinson's disease
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摘要 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 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
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2003年第2期312-313,共2页 中华医学杂志(英文版)
关键词 GENETICS Parkinson's disease ubiquitin carboxy terminal hydrolase L1 Ile93Met genetics · Parkinson's disease · ubiquitin carboxy terminal hydrolase L1 · Ile93Met
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