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A kind of pkp2 gene mutation detection kit and its detection method

A technology for detecting kits and genes, which is applied in the direction of biochemical equipment and methods, microbiological determination/inspection, etc., and can solve the problems of low throughput and inability to meet the timeliness requirements of multi-sample detection in the genetic detection area, etc.

Active Publication Date: 2021-05-11
GUANGDONG HUAMEI ZHONGYUAN BIOLOGICAL SCI & TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] At the same time, the traditional gene detection method based on Sanger sequencing has the disadvantage of low throughput, and only one amplification region can be detected in one reaction, which cannot meet the requirements of huge gene detection area and multi-sample detection timeliness

Method used

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  • A kind of pkp2 gene mutation detection kit and its detection method
  • A kind of pkp2 gene mutation detection kit and its detection method
  • A kind of pkp2 gene mutation detection kit and its detection method

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0041] Embodiment 1, the establishment of standard collection of illustrative plates:

[0042] According to the above detection method, the control gene sequence is detected, and the following results are obtained: figure 1The shown normal sequence is compared with the 4-site detection pattern of the wild-type specific primer and the 4-site detection standard pattern of the mutant sequence is compared with the mutant-type specific primer.

Embodiment 2

[0043] Example 2, according to the above detection method, using the PKP2 gene detection kit to detect R158K, Q211X, L419S and N852fsX930 single detection sites respectively, and using normal or mutant sequences as templates for typing comparison, the results are as follows Figure 2-5 shown.

Embodiment 3

[0044] Embodiment 3, No. 1 sample detection:

[0045] Test No. 1 sample according to the above-mentioned method, and obtain the following results: Image 6 As shown in the map, it can be seen that sample No. 1 has a double-site mutation of L491S and N852fsX930.

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Abstract

The invention discloses a PKP2 gene mutation detection kit, comprising a primer pair for specifically amplifying R158K, Q211X, L419S and N852fsX930 polymorphic sites on the PKP2 gene, the primer pair including public upstream primers and typing Downstream primers, the typing downstream primers include wild type specific primers and mutant type specific primers. The detection method of the above-mentioned PKP2 gene mutation detection kit includes: the simultaneous amplification of 4 polymorphic sites of the PKP2 gene in the sample adopts polymerase chain reaction, and the detection of its amplification product adopts high performance liquid chromatography, multiplex Fluorescence capillary electrophoresis or polyacrylamide gel electrophoresis.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a PKP2 gene mutation detection kit. Background technique [0002] Arrhythmogenic right ventricular cardiomyopathy / dysplasia (ARVC / D) is an autosomal dominant genetic disease that progressively replaces myocardial tissue with fibrous and adipose tissue, accompanied by incomplete penetrance. Right ventricle enlargement and ventricular arrhythmia originating from the right ventricle can manifest as palpitations, syncope, heart failure and even sudden death. It is one of the main causes of sudden cardiac death in adolescents, especially exercise-induced sudden death. [0003] At present, ARVC / D is considered to be an inherited desmosomal cardiomyopathy. Through a series of pathophysiological changes, it eventually leads to clinical arrhythmia, heart failure and sudden death. The PKP2 protein encoded by PKP2 gene is an important component of desmosome protein, and the change of its stru...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2531/113C12Q2563/107C12Q2565/125
Inventor 黄源坚王邦超郑文彦杜蔚安吴智锋彭百华王宇鹏
Owner GUANGDONG HUAMEI ZHONGYUAN BIOLOGICAL SCI & TECH
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