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Published: 2023-03-31
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DOI: https://doi.org/10.52852/tcncyh.v164i3.1450
Issue
Vol. 164 No. 3 (2023)
Section
Các bài báo
How to Cite
Anh, Đỗ T. K. ., Thịnh, T. H. ., Tuấn, P. L. A. ., Bình, N. T. ., & Khánh, T. V. . (2023). 2. Detection of mutations of SCN1B gene in patients with Brugada syndrome. Journal of Medical Research, 164(3), 10-17. https://doi.org/10.52852/tcncyh.v164i3.1450

2. Detection of mutations of SCN1B gene in patients with Brugada syndrome

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

Main Article Content

Abstract

Brugada syndrome is one of the most common causes of sudden cardiac death worldwide. This is a congenital cardiac electrophysiological disorder, which is the result of mutations in genes encoding ion channels protein in the cardiovascular system. Among them, mutations in SCN1B (Sodium Voltage-Gated Channel Beta Subnit-1) gene causes a decrease in Navβ1 channel protein function. The study was carried out to identify mutations on the SCN1B gene in Brugada patients, which based on total DNA extracted from peripheral blood of 50 patients diagnosed with Brugada syndrome; 50 patients diagnosed with Brugada syndrome at Ho Chi Minh City Heart Hospital and Hanoi Heart Hospital were sequenced using Sanger sequencing. The study has identified 3/50 patients SCN1B gene mutations gene in 3 types of mutations on exon 3; exon 4 and all are point mutations (one nucleotide substitutions), one of which has not been reported in the Clinvar database before.

Article Details

Keywords

Brugada Syndrome, SCN1B, mutations

References

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