Diagnostic marker, scoring model and diagnostic product for dilated cardiomyopathy

A technology for dilated cardiomyopathy and diagnostic markers, applied in the field of biomedicine, can solve problems such as difficulty in judging dilated cardiomyopathy, and achieve the effect of accurate judgment

Pending Publication Date: 2022-05-24
ZHEJIANG UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0004] At present, in clinical practice, despite detailed imaging examinations and immunohistochemical analysis, there are still some cases that are difficult to determine whether they are suffering from dilated cardiomyopathy, especially in the early stages of onset

Method used

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  • Diagnostic marker, scoring model and diagnostic product for dilated cardiomyopathy
  • Diagnostic marker, scoring model and diagnostic product for dilated cardiomyopathy
  • Diagnostic marker, scoring model and diagnostic product for dilated cardiomyopathy

Examples

Experimental program
Comparison scheme
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Embodiment 1

[0103] The gene combination used for the diagnosis of human dilated cardiomyopathy described in this embodiment includes 13 characteristic genes (biomarkers), and the selection of these characteristic genes mainly includes the following steps:

[0104] (1) Collection and processing of training set samples: The inventor of the application in this case analyzed a large sample of clinical data and biological sample data of patients with dilated cardiomyopathy and healthy people, a total of 332 cases, including 166 cases of dilated cardiomyopathy Corresponding RNA-seq expression profiling data and clinical data from patients and 166 healthy samples.

[0105] (2) Screening of 13 specific genes:

[0106] Autophagy is a process of cell self-phagocytosis and waste recycling. Under normal circumstances, autophagy maintains cellular homeostasis. In recent years, studies have reported that autophagy is closely related to the occurrence of dilated cardiomyopathy. Therefore, the inventor...

Embodiment 2

[0118] In this example, 10 left ventricular biopsy specimens were used to collect RNA-seq data:

[0119] Step 1. Extraction and preservation of human left ventricular tissue samples.

[0120] The myocardial biopsy tissue waste (left ventricular specimen) obtained from heart disease patients during surgery was obtained from the operating room of the hospital, and paraffin sections of 4um×10 were made by the pathology department and stored at room temperature.

[0121] Step 2. RNA-seq to determine the gene expression data of left ventricular tissue.

[0122] Specifically, it can be divided into two steps: sample preparation and sequencing library construction:

[0123] (1) First, extract total RNA from paraffin sections. The specific steps are: take paraffin sections, add wax remover, incubate at 56 °C, add protein PKD, add enzyme K, incubate at 56 °C and 80 °C, add DNase I, and use anhydrous Ethanol washing, and finally RNA elution to obtain total RNA.

[0124] (2) When buil...

Embodiment 3

[0174] This example uses the gene chip data of 10 left ventricular biopsy specimens, and the chip platform is GPL3050.

[0175] Step 1. Human left ventricular tissue extraction and preservation.

[0176] The myocardial biopsy tissue waste (left ventricular specimen) obtained from heart disease patients during surgery was obtained from the operating room of the hospital, and paraffin sections of 4um×10 were made by the pathology department and stored at room temperature.

[0177] Step 2: Gene chip directly measures gene expression. The specific steps can be divided into three steps:

[0178] (1) Sample preparation and labeling. The preparation of the samples is consistent with the total RNA extraction procedure of the "Determination of Gene Expression by RNA-seq" technical process. After the total RNA is obtained, the mRNA needs to be enriched and labeled after amplification. Labeling methods include biotin labeling, fluorescein labeling, isotope labeling and the like.

[0...

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Abstract

The invention discloses a diagnostic marker and a diagnostic product for dilated cardiomyopathy, the diagnostic marker can be used for accurately judging the risk of dilated cardiomyopathy, and the diagnostic marker and the diagnostic product can be widely applied to various gene expression data platforms. The invention provides the scoring model for indicating the dilated cardiomyopathy risk, and the risk value is calculated by substituting the expression values of the 13 genes in the diagnostic marker into the scoring model, so that the dilated cardiomyopathy risk can be accurately judged.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and in particular relates to a diagnostic marker, a scoring model and a diagnostic product for dilated cardiomyopathy. Background technique [0002] Dilated cardiomyopathy is a common cause of heart failure and the most common diagnosis in patients undergoing heart transplantation. Dilated cardiomyopathy currently causes approximately 10,000 deaths and 46,000 hospitalizations annually in the United States (no data from China). Dilated cardiomyopathy is characterized by dilation and systolic dysfunction of one or both ventricles. Historically, the diagnosis of dilated cardiomyopathy has been based on medical history (with particular attention to symptoms of heart failure, arrhythmias, presyncope, and syncope), family history (if abnormal clinical screening in first-degree relatives suggests or consistent with dilated cardiomyopathy), physical Investigations (with special attention to the hea...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11G16B25/20G16B40/00G16B5/00
CPCC12Q1/6883G16B25/20G16B40/00G16B5/00C12Q2600/158
Inventor 尚敏孙硕傅国胜王耀黄成琛
Owner ZHEJIANG UNIV
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