Application of reagent for detecting SCN2B and / or SCN4B gene mutation in preparation of hereditary arrhythmia detection product

By using reagents to detect SCN2B and SCN4B gene mutations, combined with whole-exome sequencing and Sanger sequencing for verification, a cell model was constructed. This solved the problem of negative gene detection in the diagnosis of JWS in existing technologies, enabling accurate diagnosis and personalized treatment of JWS, and improving the efficiency of clinical diagnosis and treatment.

CN121592779AActive Publication Date: 2026-03-03RENMIN HOSPITAL OF WUHAN UNIVERSITY (HUBEI GENERAL HOSPITAL)
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Patent Information

Application Number
CN202610107872.0
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2026-01-27
Publication Date
2026-03-03
Estimated Expiration
2046-01-27

AI Technical Summary

Technical Problem

In the diagnosis of J-wave syndrome (JWS), only the SCN5A gene has been identified as the main pathogenic gene. Approximately 70%-80% of patients test negative for gene testing, making accurate diagnosis impossible. Furthermore, there is a lack of detection methods for SCN2B and SCN4B gene mutations, resulting in low clinical diagnostic efficiency.

Method used

We will develop reagents to detect SCN2B and/or SCN4B gene mutations, construct cell models using a dual detection system validated by whole-exome sequencing and Sanger sequencing, interpret action potentials and spatial structure models, and construct human ventricular cell action potential models using whole-cell patch-clamp, confocal microscopy, and action potential simulation for precise diagnosis and personalized treatment.

Benefits of technology

It has enabled the precise detection of SCN2B and SCN4B gene mutations, expanded the pathogenic gene spectrum of JWS, provided early and accurate diagnosis and personalized risk assessment, guided genetic screening of family members, significantly improved clinical diagnosis and treatment efficiency, and provided a basis for the development of novel antiarrhythmic drugs.

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    Figure 4JVCWOLHYUCOI7OFPBBWPU4IBSSDB6MA0ZRELPZY
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    Figure 8QF3QNLDYF4FEM64DWJK3NRZ2CEYMSX3NHO34HN1
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Abstract

The invention discloses application of a reagent for detecting SCN2B and / or SCN4B gene mutation in preparation of a hereditary arrhythmia detection product. According to the present invention, through the dual detection system combining whole exon sequencing with Sanger sequencing verification, the accurate capture of the pathogenic mutation such as SCN2B-R28Q / Y69H / P210L and SCN4B-T211M is achieved, and the problem that only SCN5A is determined as the main pathogenic gene in the clinical diagnosis of J wave syndrome (JWS) at present, and the gene detection of about 70-80% of patients is negative is solved. Wherein the three missense mutations of the SCN2B and the SCN4B-T211M variation are reported in the JWS for the first time, and the SCN4B is clear as the JWS pathogenic gene for the first time, so that the pathogenic gene spectrum of the JWS is obviously expanded. A detection product developed on the basis of the method can realize early accurate diagnosis, provide personalized risk assessment (such as sudden death early warning induced by fever) for patients, guide genetic screening of family members and remarkably improve clinical diagnosis and treatment efficiency.
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Citation Information

Patent Citations

  • Kit for detecting SCN1A gene copy number variation

    CN114231610A

  • Common polymorphism in scn5a implicated in drug-induced cardiac arrhythmia

    US20030235838A1