Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

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 analysi...

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Bibliographic Details
Published in:Journal of neurology 2010-07, Vol.257 (7), p.1170-1175
Main Authors: Guo, Ji-feng, Zhang, Xue-wei, Nie, Li-luo, Zhang, Hai-nan, Liao, Bin, Li, Jing, Wang, Lei, Yan, Xin-xiang, Tang, Bei-sha
Format: Article
Language:English
Subjects:
Adult
Asian Continental Ancestry Group - ethnology
Asian Continental Ancestry Group - genetics
Biological and medical sciences
China - ethnology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis
Female
Genes
Genetic Markers - genetics
Genetic Predisposition to Disease - ethnology
Genetic Predisposition to Disease - genetics
Genetic Testing
Genetics
Genotype
Humans
Intracellular Signaling Peptides and Proteins - genetics
Male
Medical sciences
Medicine
Medicine & Public Health
Middle Aged
Mutation
Mutation - genetics
Neurology
Neuroradiology
Neurosciences
Oncogene Proteins - genetics
Original Communication
Parkinson Disease - ethnology
Parkinson Disease - genetics
Parkinson Disease - metabolism
Parkinson's disease
Patients
Protein Deglycase DJ-1
Protein Kinases - genetics
Segregation
Ubiquitin-Protein Ligases - genetics
Young Adult
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Summary: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.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-010-5485-8