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Published: 2022-06-15
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DOI: https://doi.org/10.52852/tcncyh.v155i7.948
Issue
Vol. 155 No. 7 (2022)
Section
Các bài báo
How to Cite
Tuấn, P. L. A. ., Bình, N. T. ., Khánh, T. V. ., & Thịnh, T. H. . (2022). 3. Identfication of point mutations in PARK2 gene with Parkinson’s disease patients using sequencing method. Journal of Medical Research, 155(7), 14-20. https://doi.org/10.52852/tcncyh.v155i7.948

3. Identfication of point mutations in PARK2 gene with Parkinson’s disease patients using sequencing method

Pham Le Anh Tuan, Nguyen Thanh Binh, Tran Van Khanh, Tran Huy Thinh

Main Article Content

Abstract

PARK2 encodes Parkin, a E3 ubiquitin ligase enzyme. Mutations on PARK2 gene were often recorded in autosomal recessive juvenile form of Parkinson’s. Object: Point mutations in PARK2 genes were found in early-onset Parkinson patients (before age of 40) at the rate of 9 - 12%. We suggest that it is necessary to conduct an investigation of PARK2 mutations in Vietnamese cohort. This cohort study was performed in 30 Parkinson patients with average age of 52.6 ± 7.4 years old, male/female ratio is 1.3, using Sanger sequencing. Three different types of point mutations were found in three patients (10%). All these three patients are currently in phase I and phase II of the disease. This study proved to be significant to not only patients and their families but also to the database of Parkinson disease in Vietnam.

Article Details

Keywords

Parkinson’s disease, mutation, Sanger sequencing, PARK2 gene

References

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