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Published: 2023-03-31
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DOI: https://doi.org/10.52852/tcncyh.v164i3.1477
Issue
Vol. 164 No. 3 (2023)
Section
Các bài báo
How to Cite
Nghĩa, T. T. ., Thịnh, T. H. ., Việt, N. H. ., Tuấn, P. L. A. ., & Khánh, T. V. . (2023). 4. Application next generation sequencing in mutation identification in Parkinson’s disease patients. Journal of Medical Research, 164(3), 25-32. https://doi.org/10.52852/tcncyh.v164i3.1477

4. Application next generation sequencing in mutation identification in Parkinson’s disease patients

Tran Tin Nghia, Tran Huy Thinh, Nguyen Hoang Viet, Pham Le Anh Tuan, Tran Van Khanh

Main Article Content

Abstract

Parkinson's disease is the second most common neurodegenerative disorder in the elderly after Alzheimer's. The disease is characterized by the progressive degeneration of substantia nigra dopaminergic neurons, leading to a decrease in dopamine content and affecting the transmission of nerve signals to ensure the normal process of muscle contraction. With the rapid growth of recent studies, genetic factors play a crucial role in the progression of Parkinson’s disease. The purpose of the research is to apply next generation sequencing to identify mutations in genes that are related to Parkinson’s disease. DNA extracted from peripheral blood samples of 40 Parkinson’s patients was sequenced using the whole-exome next generation sequencing method. Mutations were detected in 29 patients (72.5%). 18.0% of cases had GBA mutations and 16.0% of cases had ElF4G1 mutations. The average age was 53.33 ± 6.68. The ratio of male/female was 1.22

Article Details

Keywords

Parkinson’s disease, Next Generation Sequencing, mutation

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