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A cardiomyopathy-related gene detection reagent and its application

A technology of cardiomyopathy and disease-causing genes, applied in the field of detection of cardiomyopathy, can solve the problems of inaccurate results, high cost, and increased cost of medical treatment for patients

Active Publication Date: 2021-07-30
北京中关村生命科学园生物医药科技孵化有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At present, the method of whole exome sequencing is mainly used to detect relevant single gene mutations. The depth of sequencing is insufficient, which often leads to inaccurate results and high cost
In addition, some hospitals have developed diagnostic kits for cardiomyopathy, but these kits involve too many genes, such as 80, including many cardiomyopathy with low clinical incidence and some genes with very low correlation. Genetic testing undoubtedly greatly increases the cost of medical treatment for patients

Method used

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  • A cardiomyopathy-related gene detection reagent and its application
  • A cardiomyopathy-related gene detection reagent and its application
  • A cardiomyopathy-related gene detection reagent and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0054] 1. Genetic testing

[0055] (1) Provide the subject's peripheral blood samples. The blood is 5ml of venous blood taken routinely, anticoagulated with EDTA, and stored at 4°C.

[0056] (2) Quantification of genomic DNA in peripheral blood

[0057] The genome was quantified according to the instructions of Qubit 2.0 DNA Quantification Reagent.

[0058] (3) Target region amplification:

[0059] A. Prepare the amplification system

[0060] Use 0.2ml PCR tube / 96PCR plate, and configure the reaction in the ultra-clean bench according to the system shown in Table 2:

[0061] Table 2 Amplification system

[0062] Primer Pool mix 8ul gDNA 20-200ng / μl up to 12μl H 2 0

(12-y)μl 3X M_Enzyme MIX 10μl Total 30μl

[0063] where, y refers to the volume of gDNA added

[0064] B. Amplification program settings, as shown in Table 3:

[0065] Table 3 Amplification program

[0066]

[0067] *If the input amount of DNA is 10ng, add 2 cycl...

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Abstract

The invention provides a cardiomyopathy-related gene detection reagent and the application of the reagent in detecting cardiomyopathy. Specifically, the present invention covers capture primers for 27 target disease-causing gene loci of 9 common types of cardiomyopathy, through multiplex PCR amplification, DNA library construction, which can be applied to the high-throughput sequencing method of the Illumina platform, Data analysis was performed after sequencing to obtain a clinical reference test report.

Description

technical field [0001] The invention relates to a reagent for detecting cardiomyopathy-related genes and the application of the reagent in detecting cardiomyopathy. Specifically, the present invention covers capture primers for 27 target disease-causing gene loci of 9 common types of cardiomyopathy, through multiplex PCR amplification, DNA library construction, which can be applied to the high-throughput sequencing method of the Illumina platform, Data analysis was performed after sequencing to obtain a clinical reference test report. It belongs to the gene detection technology in the clinical detection technology in the field of biomedicine. Background technique [0002] Cardiovascular disease is the leading cause of death among Chinese residents. It is estimated that there are 290 million patients with cardiovascular disease in my country, that is, 1 person in every 5 people suffers from cardiovascular disease. Among them, the number of heart failure exceeds 4.2 million,...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6837C12N15/11
CPCC12Q1/6837C12Q1/6883C12Q2600/156
Inventor 潘智陈正马娜张宇王东升江茂华李征李一平
Owner 北京中关村生命科学园生物医药科技孵化有限公司
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