An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 312-313, 2003.
Artículo
en Inglés
| WPRIM
| ID: wpr-356809
ABSTRACT
<p><b>OBJECTIVE</b>To ascertain whether a coding mutation (Ile93Met) in ubiquitin carboxy-terminal hydrolase (UCH-L1) gene plays a role in idiopathic Parkinson's disease (IPD).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>Ile93Met substitution was found neither in PD patients nor in controls.</p><p><b>CONCLUSIONS</b>Our study suggested that Ile93Met of UCH-L1 gene did not influence risk of IPD.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Parkinson
/
Fisiología
/
Tioléster Hidrolasas
/
Sustitución de Aminoácidos
/
Ubiquitina Tiolesterasa
/
Genética
/
Mutación
Límite:
Anciano
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Chinese Medical Journal
Año:
2003
Tipo del documento:
Artículo
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