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Date Published: 08/01/2022
Abstract Views: 466
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DOI: https://doi.org/10.51298/vmj.v508i2.1624
Issue
Vol. 508 No. 2 (2021)
Section
Các bài báo
How to Cite
Đức Minh, Đỗ ., Bắc An, L. ., Gia Hoàng Linh, L. ., Ngọc Tài, T. ., & Phương Thảo, M. . (2022). APPLICATION NEXT GENERATION SEQUENCING IN DETECTING MUTATIONS OF PARKINSON’S DISEASE CAUSING GENES. Vietnam Medical Journal, 508(2). https://doi.org/10.51298/vmj.v508i2.1624

APPLICATION NEXT GENERATION SEQUENCING IN DETECTING MUTATIONS OF PARKINSON’S DISEASE CAUSING GENES

Đỗ Đức Minh1, Lương Bắc An1, Lê Gia Hoàng Linh1, Trần Ngọc Tài2, Mai Phương Thảo1,
1 University of Medicine and Pharmacy at Ho Chi Minh City
2 University Medical Center Ho Chi Minh City

Main Article Content

Abstract

Background: Parkinson's disease, characterized by the progressive and selective degeneration of substantia nigra dopaminergic neuron, is one of the most common neurodegenerative disorders. Although Parkinson’s disease has been investigated intensely for ages, the pathogenesis of Parkinson’s disease remains indistinct. Genetic and environmental factors maybe play an interactional role in the etiology of Parkinson’s disease. However, with the rapid growth of recent studies, genetic factors play a crucial role in the progression of Parkinson’s disease. Objectives: Next-generation sequencing (NGS) has been used to detect mutations on 20 genes relating to Parkinson's disease. Methods: Blood samples were collected from 60 Parkinson's patients based on their clinical symptoms and MDS-UPDRS scores. DNA was extracted from peripheral blood samples of patients. DNA was fragmented and prepared library to conducting sequencing. BASESPACE software was used for data analysis. Results: From 60 Parkinson's patients, we detected 10 patients (16,7%) had pathogenic mutations, including LRRK2 R1628P (6 cases), GBA c.115+1C>T (2 cases), GBA L444P (1 cases) và PLA2G6 A80T (1 case). Conclusion: NGS was successfully applied to identify mutants in Parkinson's genes, helping to test for diagnostic genes to determine Parkinson's genetic neuropathy.

Article Details

Keywords

Parkinson’s disease, next generation sequencing, mutation

References

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