Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China
| Autor: | Xinzhen Yin, Wei Luo, Zhirong Liu, Miao Cai, Zheng-xiang Hu, Guohua Zhao, Baorong Zhang |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male China Ubiquitin-Protein Ligases PINK1 Biology medicine.disease_cause Parkin Young Adult Exon Asian People medicine Humans Genetic Predisposition to Disease Age of Onset Gene Genetic Association Studies Genetics Mutation General Neuroscience Parkinson Disease Middle Aged Molecular biology nervous system diseases Real-time polymerase chain reaction Mutation testing Female Age of onset Protein Kinases |
| Zdroj: | Neuroscience Letters. 477:19-22 |
| ISSN: | 0304-3940 |
| DOI: | 10.1016/j.neulet.2010.04.026 |
| Popis: | A series of 69 Han Chinese PD patients (including 66 index cases and 3 relatives) with early-onset Parkinson's disease (EOPD) were studied to assess the frequency of parkin and PINK1 gene mutations. Mutation analysis of the parkin gene was performed by real-time quantitative polymerase chain reaction (QPCR), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing. For the PINK1 gene, DHPLC and DNA sequencing were used. Nineteen patients (including one relative) had mutation in the parkin gene, and the c.2T > C (p.M1T) was not reported previously. No mutation of the PINK1 gene was found. The onset age of the patients with mutations in the parkin was earlier than that of those without mutation (p < 0.05). We concluded that mutations in parkin gene are common in Chinese EOPD patients, and mainly are exon rearrangements, while mutation in PINK1 might be not common in Chinese EOPD patients. |
| Databáze: | OpenAIRE |
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