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Kit for screening dilated cardiomyopathy genetic susceptibility genes

A technology for dilated cardiomyopathy and susceptibility genes, applied in the fields of molecular biology and medicine, can solve the problems of lack of pertinence, low mutation detection rate, and high price, so as to improve the survival rate and improve the early detection rate. Effect

Inactive Publication Date: 2016-12-07
SICHUAN KINGMED DIAGNOSTICS CENT
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Problems solved by technology

[0004] At present, high-risk gene screening for dilated cardiomyopathy has been carried out in a few hospitals, but because it is not targeted, it only covers most of the possible disease-causing genes in general, resulting in a low mutation detection rate and expensive

Method used

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Embodiment 1

[0015] A dilated cardiomyopathy hereditary susceptibility gene screening kit, the specific use method comprises the following steps:

[0016] 1) Selected 66 patients with sporadic dilated cardiomyopathy, extracted 3ml of venous blood, and extracted DNA;

[0017] 2) The 24 genes that lead to familial dilated cardiomyopathy were fully sequenced for these patients through the method of next-generation sequencing;

[0018] 3) The sequencing results are: a total of 87 non-synonymous sites were found. In order to determine whether these sites are mutations, they were compared with the dbSNP single nucleotide polymorphism database of the NCBI National Center for Biotechnology Information and the 1000 genomes project database. Plan database comparison, and at the same time, use 197 Chinese adults from the 1000 Genomes database as the same race control group, calculate the carrier rate of these loci in the database and the control group, compare with the carrier rate in the case cohort...

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Abstract

The invention discloses a kit for screening dilated cardiomyopathy genetic susceptibility genes. The kit is used for detecting three genes of MYBPC3, SCN5A and MYH7 and reagents for conducting complete exon sequencing on MYBPC3, SCN5A and MYH7. According to the kit for screening the dilated cardiomyopathy genetic susceptibility genes, the most susceptible sporadic dilated cardiomyopathy disease-causing genes of people are screened out, the kit which is effective to dilated cardiomyopathy is developed out, the early diagnosis rate of the dilated cardiomyopathy is effectively increased, and therefore early treatment is achieved, and the survival rate of patients is increased.

Description

technical field [0001] The invention relates to the fields of molecular biology and medicine, in particular to a dilated cardiomyopathy hereditary susceptibility gene screening kit. 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 in its pathogenesis. [0003] For d...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 黄平欧阳小峰毛家丽曾超
Owner SICHUAN KINGMED DIAGNOSTICS CENT
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