Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

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• 作者：Flowers ; Joanna M. ; Leigh ; P. Nigel ; Davies ; Alun M. ; Ninkina ; Natalia N. ; Buchman ; Vladimir L. ; et. al.
• 关键词：Human persyn gene ; Polymorphisms ; Amyotrophic lateral sclerosis ; Familial Parkinson’ ; s disease
• 刊名：Neuroscience Letters
• 出版年：1999
• 出版时间：October 15, 1999
• 年：1999
• 卷：274
• 期：1
• 页码：21-24
• 全文大小：80.4 K

文摘

The synucleins are a family of small proteins expressed in nervous tissue, which have been implicated in neurodegeneration. Using single strand conformation polymorphism analysis we screened for polymorphisms and mutations in the gene encoding human persyn, a recently discovered member of the synuclein family, in controls, patients with sporadic or familial amyotrophic lateral sclerosis (ALS) or familial Parkinson's disease (PD). Six polymorphisms in the genomic sequence of persyn were detected; A₅₉₀C (5′untranslated region), G₁₉₄₃C (exon 3), G₂₀₄₉A (intron 3), T₄₅₀₂C (intron 3), T₄₅₅₂A (exon 4) and C₅₀₁₉T (3′untranslated region). However no associations with disease state were found in our sample group.