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New mutant protein related to dilated cardiomyopathy, new mutant gene and application thereof

A technology of mutated protein and titin, applied in the direction of muscle protein, application, genetic engineering, etc., can solve the problem of inability to explain the cause of the disease, and achieve the effect of reducing the birth of sick children

Active Publication Date: 2020-12-04
百世诺(北京)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 are still some patients with dilated cardiomyopathy that cannot be explained by known causative genes, suggesting that there may be undiscovered causative genes

Method used

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  • New mutant protein related to dilated cardiomyopathy, new mutant gene and application thereof
  • New mutant protein related to dilated cardiomyopathy, new mutant gene and application thereof
  • New mutant protein related to dilated cardiomyopathy, new mutant gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0045] Example 1: Dilated cardiomyopathy patient / carrier verification experiment

[0046] Sample source: Xuzhou Central Hospital, on the premise that the dilated cardiomyopathy proband and family members voluntarily sign the informed consent, send 5-10mL whole blood samples (add EDTA anticoagulant, store at -80°C), and establish medical records A library to record in detail the proband's condition, family status and other information. This study has been approved by the institutional ethics committee.

[0047] Randomly collect 200 healthy samples unrelated to the family of the proband with dilated cardiomyopathy as verification samples, each collect 2-4mL EDTA anticoagulant blood, and store at -80°C.

[0048] 1. Preparation of Genomic DNA

[0049] Whole-genome DNA was extracted from human whole blood EDTA anticoagulated samples of the proband and verification samples, using the magnetic bead method whole blood genome DNA extraction kit, and the operation steps were carried out...

Embodiment 2

[0085] Example 2. Unrelated sample verification experiment--family screening of dilated cardiomyopathy

[0086] 1. Experimental method

[0087] A family with dilated cardiomyopathy was recruited (the family picture is shown in figure 1 shown), all family members (4 patients in the family and 5 normal people in the family) underwent laboratory examination, electrocardiogram and dynamic electrocardiogram examination, exercise electrocardiogram examination and imaging examination, and it was initially confirmed that they were consistent with dilated cardiomyopathy family characteristics.

[0088] Through genetic testing, 4 patients with dilated cardiomyopathy were detected in the family; according to family members, a deceased member of the family was also a patient with dilated cardiomyopathy.

[0089] In addition, 1174 healthy people without dilated cardiomyopathy were recruited as controls.

[0090] The method in Example 1 was used to amplify the TTN gene c.20292_20293 of ...

Embodiment 3

[0101] Embodiment 3: TTN gene kit for in vitro detection of patients with dilated cardiomyopathy

[0102] 1. Kit composition:

[0103]

[0104] 2. How to use:

[0105] (1) Genomic DNA extraction: Use a DNA extraction kit to extract genomic DNA from peripheral blood samples.

[0106] (2) PCR amplification: PCR amplification was performed using the above-mentioned kit, and the reaction system and reaction conditions were referred to in Example 1.

[0107] (3) Purify the PCR amplification product.

[0108] (4) Perform Sanger sequencing on the purified PCR amplification product.

[0109] (5) Analyze the sequencing results and compare with the wild-type coding gene to determine whether there is a heterozygous deletion mutation of the TTN gene c.20292_20293.

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Abstract

The invention relates to a new mutant protein related to dilated cardiomyopathy, a new mutant gene and application thereof, discloses a mutant protein and a mutant TTN gene, has c.20292-20293 heterozygosis deletion variation compared with a human TTN gene, verifies that the mutation is related to dilated cardiomyopathy through research data, and protects the mutant protein and the gene based on arequest. And a kit for detecting dilated cardiomyopathy is disclosed. The mutant TTN gene provided by the invention can distinguish patients with dilated cardiomyopathy from normal people, and can beused as a biomarker for clinical auxiliary diagnosis of dilated cardiomyopathy. Carriers of the variation can be screened in the early stage, and prenatal and postnatal guidance and genetic counselingare provided for subjects. And a possible drug treatment target is provided for human to overcome the dilated cardiomyopathy.

Description

technical field [0001] The invention relates to a human mutant gene, in particular to a new mutant protein related to dilated cardiomyopathy, a new mutant gene and application thereof. Background technique [0002] Dilated cardiomyopathy (DCM) is a type of myocardial disease characterized by dilation and systolic dysfunction of the left or both ventricles of the heart. In the early stage, it may only manifest as cardiac enlargement and decreased systolic function, and in the later stage, chronic heart failure often occurs, which is one of the important causes of heart failure. The course of the disease is often accompanied by complications such as arrhythmia, thromboembolism, and even SCD, and the prognosis is poor. According to a report in China in 2014, the mortality rate of 767 cases of dilated cardiomyopathy followed up for 52 months was 42.24%, which brought a heavy burden to the family and society. [0003] More than 60 pathogenic genes related to dilated cardiomyopa...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C07K14/47C12N15/12C12Q1/6883C12Q1/6858
CPCC07K14/4716C12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/166C12Q2531/113C12Q2545/113
Inventor 刘哲侯青梁庆渊刘锋李伟真刘福佳赵娜娜周小云刘昕超惠汝太
Owner 百世诺(北京)医学检验实验室有限公司
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