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

Ji Feng Guo; Xue Wei Zhang; Li Luo Nie; Hai Nan Zhang; Bin Liao; Jing Li; Lei Wang; Xin Xiang Yan; Bei Sha Tang

doi:10.1007/s00415-010-5485-8

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

Ji Feng Guo, Xue Wei Zhang, Li Luo Nie, Hai Nan Zhang, Bin Liao, Jing Li, Lei Wang, Xin Xiang Yan, Bei Sha Tang

Research output: Contribution to journal › Article › peer-review

31 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1170-1175
Number of pages	6
Journal	Journal of neurology
Volume	257
Issue number	7
DOIs	https://doi.org/10.1007/s00415-010-5485-8
State	Published - Jul 2010
Externally published	Yes

Keywords

Gene mutation
Genetics
Parkinson's disease
Phenotype

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1007/s00415-010-5485-8

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

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.",

keywords = "Gene mutation, Genetics, Parkinson's disease, Phenotype",

author = "Guo, {Ji Feng} and Zhang, {Xue Wei} and Nie, {Li Luo} and Zhang, {Hai Nan} and Bin Liao and Jing Li and Lei Wang and Yan, {Xin Xiang} and Tang, {Bei Sha}",

year = "2010",

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doi = "10.1007/s00415-010-5485-8",

language = "English (US)",

volume = "257",

pages = "1170--1175",

journal = "Journal of neurology",

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T1 - Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

AU - Guo, Ji Feng

AU - Zhang, Xue Wei

AU - Nie, Li Luo

AU - Zhang, Hai Nan

AU - Liao, Bin

AU - Li, Jing

AU - Wang, Lei

AU - Yan, Xin Xiang

AU - Tang, Bei Sha

PY - 2010/7

Y1 - 2010/7

N2 - 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.

AB - 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.

KW - Gene mutation

KW - Genetics

KW - Parkinson's disease

KW - Phenotype

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

Abstract

Keywords

ASJC Scopus subject areas

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