Mutation Detection on Exon 1 and 2 of Parkin Gene in Sporadic Early-onset Parkinson's Disease / 中山大学学报(医学科学版)
Journal of Sun Yat-sen University(Medical Sciences)
; (6): 209-211, 2001.
Article
en Zh
| WPRIM
| ID: wpr-411063
Biblioteca responsable:
WPRO
ABSTRACT
【Objective】To study the relationship between mutations on exon 1,2 of parkin gene and sporadic early-onset Parkinson's disease.【Methods】The deletion and single strand mobility shift on exon 1 and 2 of parkin gene in peripheral white blood cell DNA were detected by using PCR,agarose electrophoresis,and SSCP techniques in 52 patients with sporadic early-onset (onset age≤50) Parkinson's disease.The exons with mobility shift on SSCP were sequenced.【Results】One deletion（1.9%） of exon 2,2 cases with single strand mobility shift（3.8%）on exon 1 and exon 2 respectively,one heterozygous mutation (T103C) on exon 1 and one homozygous mutation (G237C) on exon 2 were found by sequencing.【Conclusion】Mutations on exon 1 and 2 of parkin gene are likely to be related to sporadic early-onset Parkinson's disease.
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1
Base de datos:
WPRIM
Tipo de estudio:
Diagnostic_studies
Idioma:
Zh
Revista:
Journal of Sun Yat-sen University(Medical Sciences)
Año:
2001
Tipo del documento:
Article