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
in Chinese
| WPRIM
| ID: wpr-411063
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Journal of Sun Yat-sen University(Medical Sciences)
Year:
2001
Type:
Article
Similar
MEDLINE
...
LILACS
LIS