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Kit for screening dilated cardiomyopathy

A technology for dilated cardiomyopathy and a kit is applied in the medical field to achieve the effects of reducing the cost of testing, improving the survival rate of patients, and improving the efficiency of testing

Active Publication Date: 2015-02-18
苏州科诺医学检验实验室有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there is no report on an effective early diagnosis method and screening diagnostic kit for dilated cardiomyopathy with a high detection rate and low detection costs.

Method used

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  • Kit for screening dilated cardiomyopathy
  • Kit for screening dilated cardiomyopathy

Examples

Experimental program
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Effect test

Embodiment 1

[0020] Example 1 Screening of the most dangerous genes

[0021] 1) Selected 66 patients with sporadic dilated cardiomyopathy, extracted 3ml of venous blood, and extracted DNA;

[0022] 2) The 24 genes that lead to familial dilated cardiomyopathy were fully sequenced for these patients through the method of next-generation sequencing;

[0023] 3) The sequencing results are: a total of 87 non-synonymous sites were found. In order to clarify whether these sites are mutations, the dbSNP (single nucleotide polymorphism database) and 1000 genomes project of NCBI (National Center for Biotechnology Information) database (Thousand Genomes Project database), and at the same time, 197 Chinese adults from the Thousand Genomes database were used as the same-race control group to calculate the carrying rate of these loci in the database and the control group, and the carrying rate in the case cohort Compare, calculate p-value;

[0024] 4) According to information biology technology, usi...

Embodiment 2

[0030] Example 2 Screening Kit

[0031] According to the four "most dangerous genes" obtained in Example 1, the present invention provides a test kit for screening dilated cardiomyopathy, which includes a test kit for human MYBPC3, SCN5A, MYH7 and MYPN Reagents for whole exome sequencing of genes, only for human MYBPC3, SCN5A, MYH7 and MYPN The screening of these four genes can significantly increase the detection rate of patients, greatly save the detection cost, increase the early detection rate, so as to achieve early treatment and improve the survival rate of patients.

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Abstract

The invention relates to a kit for screening dilated cardiomyopathy. The detection genes of the kit are MYBPC3, SCN5A, MYH7 and MYPN. The present invention also provides the application of four genes MYBPC3, SCN5A, MYH7 and MYPN in preparing a kit for screening dilated cardiomyopathy. The advantages of the present invention are: the present invention screens out the most susceptible 4 sporadic dilated cardiomyopathy pathogenic genes in Chinese Han population, and develops an effective early diagnosis method and diagnostic kit for sporadic dilated cardiomyopathy in Chinese Han population, Effectively improve the early detection rate of patients with dilated cardiomyopathy, so as to achieve early treatment and improve the survival rate of patients; compared with the current expensive and inefficient genetic screening methods for dilated cardiomyopathy, the discovery of these four high-risk disease-causing genes It will make screening more targeted, thereby reducing testing costs and improving detection efficiency.

Description

technical field [0001] The invention relates to the field of medical technology, in particular to an early diagnosis method and a screening kit effective for sporadic dilated cardiomyopathy in Chinese Han population. Background technique [0002] Dilated cardiomyopathy is one of the most common cardiomyopathies, characterized by enlarged ventricular cavity, decreased myocardial systolic function and normal left ventricular wall thickness. It is the third cause of heart failure and the first cause of heart transplantation. It can be caused by coronary heart disease, myocarditis and systemic diseases, but it can also be primary. The incidence of primary dilated cardiomyopathy is about 40 / 100,000, and the cellular and molecular mechanisms of its pathogenesis are still unclear. About 30% of cases show familial inheritance, and recently we found that 70% of sporadic dilated cardiomyopathy also have multiple gene mutations, suggesting that genetic factors play an important role i...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 葛均波孙爱军范铮徐磊申程
Owner 苏州科诺医学检验实验室有限公司
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