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IDENTFICATION MUTATIONS IN VPS13C GENE WITH PARKINSON’S DISEASE PATIENTS
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Abstract
Objective: Identify mutations in some exons of the VPS13C gene in Parkinson's patients using Sanger gene sequencing technique. Materials and methods: Cross-sectional descriptive study on 30 patients identified with Parkinson's disease examined and selected by specialists at the Department of Neurology and Alzheimer's Disease, National Geriatric Hospital. Results: Average age of the study group: 51,1 ± 10,3, male/female ratio: 1,31. The rate of point mutations detected in the VPS13C gene is 13,33%, corresponding to 4/30 patients carrying 4 different mutations. Patients with mutations are all in the initial stages (I and II) of the disease. All 4 mutations are heterozygous mutations with nucleotide substitution mutations.
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Keywords
Parkinson’s disease, mutation, Sanger sequencing, VPS13C, PARK23.
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