Research on point mutation of parkin gene in patients with Parkinson's disease
Abstract：Aim To observe whether there are new mutations in parkin gene and the distribution of the mutations in patients with different subset Parkinson's disease (PD), as well as to explore probable functional impact of the mutation on the pathogenesis of PD. Methods 70 patients were divided into early onset PD and late onset PD, and the control group included 70 normal persons. Extracted genome DNA was selected as template, and all 12 exons of parkin gene were performed amplification. Single-strand conformation polymorphism (SSCP) electrophoresis was applied , and DNA sequencing for the specimen with abnormal electrophoresis was carried out to determine whether there were mutations in the exons and the distribution of mutations. Results There were 4 cases with abnormal SSCP electrophoresis in 70 patients, and one new point mutation Gly284Arg was identified in exon 7 by DNA sequencing in an early onset PD.Conclusion The point mutation of parkin gene is also one of the etiological factors for early onset PD in our country.
Keywords：Parkinson's diseasegenespoint mutation
Publication Date：2003-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：2( 1892-1893 )