Abstract
Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Asian People / ethnology
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Asian People / genetics
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China / ethnology
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DNA Mutational Analysis
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / ethnology
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Intracellular Signaling Peptides and Proteins / genetics*
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Male
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Middle Aged
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Mutation / genetics*
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Oncogene Proteins / genetics*
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Parkinson Disease / ethnology
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Parkinson Disease / genetics*
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Parkinson Disease / metabolism
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Protein Deglycase DJ-1
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Protein Kinases / genetics*
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Ubiquitin-Protein Ligases / genetics*
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Young Adult
Substances
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Genetic Markers
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Intracellular Signaling Peptides and Proteins
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Oncogene Proteins
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Ubiquitin-Protein Ligases
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parkin protein
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Protein Kinases
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PTEN-induced putative kinase
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PARK7 protein, human
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Protein Deglycase DJ-1