Method for inspecting gene mutantion of Brugada syndrome and its use

A syndrome and gene technology, applied in the field of human genetics and internal medicine and cardiovascular, can solve the problems of not being able to guarantee the safety of Chinese people, not revealing the gene mutation of idiopathic ventricular fibrillation, etc.

Inactive Publication Date: 2004-02-04
THE FIRST AFFILIATED HOSPITAL ZHEJIANG UNIV COLLEGE OF MEDICINE
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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 i

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  • Method for inspecting gene mutantion of Brugada syndrome and its use
  • Method for inspecting gene mutantion of Brugada syndrome and its use
  • Method for inspecting gene mutantion of Brugada syndrome and its use

Examples

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[0032] Example 1:

[0033] 1. Collection of data on Brugada syndrome families and normal healthy people

[0034] A total of 11 members of the Brugada syndrome family, including 3 clinically diagnosed patients, 8 normal cases. A control group of 30 cases were set up, all of which were normal southern Han population. Criteria for clinical diagnosis of Brugada syndrome are: 1: ECG presents right bundle branch block, with ST-segment elevation in leads V1-V3, changes appear and disappear, and PR and QT intervals are normal; 2: Repeated syncope and high incidence of idiopathic ventricular fibrillation; 3: No evidence of obvious organic heart disease. According to the above 3 points, it is diagnosed as Brugada syndrome. Only the first point of diagnosis is Brugada type ECG.

[0035] The proband, male, 37 years old, was admitted to the hospital with "6 days after cardiopulmonary resuscitation". Six days before admission, the patient had no obvious cause of sudden syncope, loss of consciou...

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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...

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 陈君柱朱建华陶谦民郑良荣张芙荣郭晓纲尚运鹏
Owner THE FIRST AFFILIATED HOSPITAL ZHEJIANG UNIV COLLEGE OF MEDICINE
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