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New Mutant Proteins and New Mutant Genes Associated with Dilated Cardiomyopathy and Their Applications

A technology of dilated cardiomyopathy and gene fragments, applied in the fields of muscle protein, application, genetic engineering, etc., can solve the problem of inability to explain the pathogenic genes, and achieve the effect of promoting the research and development of innovative drugs and reducing the birth of children.

Active Publication Date: 2021-07-20
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 Proteins and New Mutant Genes Associated with Dilated Cardiomyopathy and Their Applications
  • New Mutant Proteins and New Mutant Genes Associated with Dilated Cardiomyopathy and Their Applications
  • New Mutant Proteins and New Mutant Genes Associated with Dilated Cardiomyopathy and Their Applications

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 ou...

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 products.

[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 "new mutant protein, new mutant gene and its application related to dilated cardiomyopathy" discloses mutant protein and mutant TTN gene, compared with human TTN gene, has c.20292_20293 heterozygous deletion mutation, research data It is verified that the mutation is related to dilated cardiomyopathy, based on the application of the above-mentioned mutant protein and gene, and a kit for detecting dilated cardiomyopathy. The mutated TTN gene provided by the present invention can distinguish patients with dilated cardiomyopathy from normal people, and can be used as a biomarker for clinical auxiliary diagnosis of dilated cardiomyopathy; it can screen the carrier of the mutation early, and provide subjects with Prenatal and postnatal guidance and genetic counseling; provide possible drug therapeutic targets for humans to overcome 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 Patents(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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