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A kit for detecting sudden cardiac death-related SNPs on scn5a gene related to sudden cardiac death and its detection method

A technology for sudden cardiac death and kits, applied in the direction of biochemical equipment and methods, microbial measurement/inspection, etc., which can solve problems such as poor repeatability, complexity, and expensive technical costs

Active Publication Date: 2022-05-24
SHANXI MEDICAL UNIV
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Problems solved by technology

The disadvantages of this method are the technical cost, complexity, low detection sensitivity, poor repeatability, narrow analysis range, etc.

Method used

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  • A kit for detecting sudden cardiac death-related SNPs on scn5a gene related to sudden cardiac death and its detection method
  • A kit for detecting sudden cardiac death-related SNPs on scn5a gene related to sudden cardiac death and its detection method
  • A kit for detecting sudden cardiac death-related SNPs on scn5a gene related to sudden cardiac death and its detection method

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Embodiment Construction

[0037] Below in conjunction with specific embodiment, the present invention is further described:

[0038] There are many SNP analysis techniques. Due to the large number of mutation types in a single SNP, direct sequencing or probe methods are rarely used to detect mutations; for the investigation of SCN5A-related SNP mutations, there are currently foreign corresponding kits for Clinically related hereditary diseases and ion channel diseases, such as cardiomyopathy, Bugada Syndrome (Brs), long QT syndrome (LQTS), etc., were analyzed, but there was no analysis of the genetic background and genetic basis of SCD in forensic medicine.

[0039] This method uses a combination of multiplex PCR technology and SNaPshot micro-sequencing technology to solve the detection problem of 45 SCD-related SNPs located on the SCN5A gene. The process is as follows:

[0040] Firstly, 31 SNPs that have been reported at home and abroad and confirmed to be related to SCD on the SCN5A gene were selecte...

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Abstract

The invention discloses a kit for detecting a sudden cardiac death-related SNP on the SCN5A gene related to sudden cardiac death and a detection method thereof, specifically comprising the following steps: 1. Using DNA extracted from a sample as a template to prepare Multiplex PCR and its detection method Purification treatment; 2. SNaPshot single base extension reaction (SBE) and its purification treatment; 3. Capillary electrophoresis of SNaPshot single base extension product and its result analysis; 4. Sensitivity detection. The invention can detect 45 sudden cardiac death (SCD) related SNPs on the SCN5A gene at one time, and obtain clear conclusions. This method no longer utilizes first-generation sequencing and next-generation sequencing technologies for comparison of the whole genome. There is no need for special instruments and methods to screen for genetic background related to sudden cardiac death.

Description

technical field [0001] The invention relates to the field of gene detection and its application, in particular to a detection kit for SCN5A gene related to sudden cardiac death. Background technique [0002] Sudden cardiac death can be seen in the following situations: (1) sudden death caused by pre-existing structural heart disease (such as coronary heart disease and myocardial ischemia); (2) sudden death caused by occult ion channel disease or cardiomyopathy ; (3) a lot of exercise, emotional agitation and even unexplained nocturnal sudden death; (4) the involvement of genetic factors related to genes and so on. With the development of DNA sequencing technology and SNP mutation detection technology, the detection ability of mutation sites has been greatly improved, but there is no SNP screening kit specifically for the SCD-related gene SCN5A. [0003] The commonly used techniques for detecting gene mutations can be roughly divided into two strategies: (1) Detection at the...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 贠克明张更谦王佳琦
Owner SHANXI MEDICAL UNIV
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