Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population
| Autor: | Lu Shen, Zhan-yun Lv, Kai Li, Ri-li Yu, Chang-he Shi, Xinxiang Yan, Jifeng Guo, Jin-yong Tian, Beisha Tang |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male China DNA Mutational Analysis Gene mutation Biology medicine.disease_cause law.invention Group VI Phospholipases A2 Asian People Parkinsonian Disorders Polymorphism (computer science) law medicine Humans Genetic Predisposition to Disease Age of Onset Polymerase chain reaction Genetics Mutation Polymorphism Genetic General Neuroscience Parkinsonism Middle Aged medicine.disease Female Age of onset Frontotemporal dementia |
| Zdroj: | Neuroscience Letters. 514:156-158 |
| ISSN: | 0304-3940 |
| Popis: | Recent studies have shown that PLA2G6 is a causative gene for PARK14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset Parkinsonism without added complicated clinical features. In order to investigate the characteristics of PLA2G6 gene mutations in Chinese sporadic early-onset parkinsonism (EOP) patients, we performed polymerase chain reaction and DNA direct sequencing on a cohort of sporadic EOP patients from Chinese population. In this study, we found a novel heterozygous varient (p.G679V). Bioinformatics demonstrates that p.G679V exhibits highly conserved residues across species, which hints it might be a pathogenic mutation. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic EOP. |
| Databáze: | OpenAIRE |
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