Mutation Detection on Exon 1 and 2 of Parkin Gene in Sporadic Early-onset Parkinson's Disease
- VernacularTitle:散发性早发帕金森病parkin基因1、2号外显子突变的研究
- Author:
Yanming XU
;
Zhuolin LIU
;
Biao CHEN
;
Enxiang TAO
;
Guojun CHEN
;
Jinru LI
- Publication Type:Journal Article
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2001;22(3):209-211
- CountryChina
- Language:Chinese
-
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.
