Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism
| Autor: | Wenjie Xie, Weidong Le, Hao Deng, Tian Hong Pan, Xiong Zhang, Joseph Jankovic |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male DNA Mutational Analysis Biology medicine.disease_cause Polymerase Chain Reaction Genetic analysis Parkin Exon Parkinsonian Disorders medicine Humans Age of Onset Gene Polymorphism Single-Stranded Conformational DNA Primers Genetics Mutation Transition (genetics) General Neuroscience Parkinsonism Microfilament Proteins Intron Proteins medicine.disease Female Molecular Chaperones |
| Zdroj: | Neuroscience Letters. 382:297-299 |
| ISSN: | 0304-3940 |
| DOI: | 10.1016/j.neulet.2005.03.034 |
| Popis: | Parkin co-regulated gene (PACRG) is a recently identified gene which is transcriptionally co-regulated with parkin gene (PRKN) by a shared bidirectional promoter. To determine whether early-onset parkinsonism (EOP) is associated with PACRG mutation, we screened 112 patients with EOP and found three nucleotide variants: (1) T>C transition in intron 2 (nt 87004; NT_007422), (2) C>T transition (L214L) in exon 6 (nt 585706; NT_007422), and (3) T>A substitution in intron 5 (nt 585630; NT_007422), located 18 bp upstream from exon 6. Since none of these variations appear to be pathogenically relevant, our results suggest that mutation of PACRG plays little or no role in the development of EOP. |
| Databáze: | OpenAIRE |
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