Method for inspecting gene mutantion of Brugada syndrome and its use

Abstract

A method for detecting the gene mutation of Brugada syndrome and its application include such steps as PCR and sequencing to obtain a SCN5A mutant gene of said Brugada syndrome, RT-PCR to obtain the cDNA of wild SCN5A, configuring its recombinant by clone technique, fixed-point mutating to obtain its mutant recombinant, and transfecting it in HEK293 cells for preventing and treating Brugada syndrome.

Description

technical field [0001] The invention belongs to the fields of human genetics and internal medicine cardiovascular, and mainly relates to a detection method of SCN5A gene mutation of idiopathic ventricular fibrillation Brugada syndrome and its application in prevention, diagnosis and treatment of Brugada syndrome. Background technique [0002] Among the patients with sudden cardiac death, about 5% of the patients have no evidence of any cardiac organic disease and no obvious inducement, and are classified as idiopathic ventricular fibrillation (IVF). Brugada syndrome is a subtype of idiopathic ventricular fibrillation characterized by "right bundle branch block with ST-segment elevation in leads V1-V3" on the body surface ECG at rest. It was first reported by Brugada in 1992 Hence the name, it is believed that about 40-60% of idiosyncratic ventricular fibrillation is due to Brugada syndrome (Brugada Syndrome). VF associated with ECG features of Brugada syndrome has been repo...

AI Technical Summary

Problems solved by technology

At present, although many studies have shown that there are mutations in the SCN5A gene, as a disease with a genetic predisposition, there are differences between races. The gene mutations in Chinese patients may be different from those found in European and American patients. Therefore, without revealing the gene mutation of Chinese idiopathic ventricular fibrillation, but only relying on foreign research results, it is obviously impossible to guarantee the safety of Chinese people.

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