Erschienen in:
01.07.2010 | Original Communication
Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism
verfasst von:
Ji-feng Guo, Xue-wei Zhang, Li-luo Nie, Hai-nan Zhang, Bin Liao, Jing Li, Lei Wang, Xin-xiang Yan, Bei-sha Tang
Erschienen in:
Journal of Neurology
|
Ausgabe 7/2010
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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.