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Dilated cardiomyopathy gene detection marker and application thereof

A technique for dilated cardiomyopathy and detection kit, applied in the field of molecular biology

Active Publication Date: 2022-05-17
FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] However, there are many genes associated with the onset of dilated cardiomyopathy. In order to improve the detection effect, it is necessary to provide new mutation sites for detection, diagnosis or treatment of dilated cardiomyopathy.

Method used

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  • Dilated cardiomyopathy gene detection marker and application thereof
  • Dilated cardiomyopathy gene detection marker and application thereof
  • Dilated cardiomyopathy gene detection marker and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0044] Embodiment 1 A kind of dilated cardiomyopathy gene detection kit

[0045] Include the following components in the test kit of the present embodiment:

[0046] (1) Upstream primer SEQ ID NO.1; Downstream primer SEQ ID NO.2;

[0047] (2) DNA extraction reagents;

[0048] (3) Taq DNA Polymerase;

[0049] (4) PCR Buffer;

[0050] (5)Mg 2+ ;

[0051] (6) dNTPs;

[0052] (7) PCR stabilizers and enhancers.

Embodiment 2

[0053] Embodiment 2 A kind of dilated cardiomyopathy gene detection method

[0054] (1) Genomic DNA extraction

[0055] Whole-genome DNA was extracted from human heart tissue samples, and the concentration and purity of DNA were tested.

[0056] (2) Use the designed primer combination to amplify the SGCB gene

[0057] Use the designed primers (Table 1), configure them into the PCR amplification reaction system (Table 2), place them in the PCR reaction instrument, and use the amplification program (Table 3) to convert a DNA sequence containing the mutation site from amplified in the genome.

[0058] Table 1. Primer information

[0059] Primer name Primer sequence (5'-3') upstream primer SGCB-F SEQ ID NO.1 downstream primer SGCB-R SEQ ID NO.2

[0060] Table 2. PCR amplification reaction system

[0061] Reagent name Volume (μL) Reagent supplier PCR Mix(2×) 10 Nanjing Novizan Biotechnology Co., Ltd. SGCB-F(10um) 1 ...

Embodiment 3

[0067] Embodiment 3 Mutation site detection effect verification

[0068] The detection effect is verified by a certain number of irrelevant samples.

[0069] Based on the rarity of the onset of DCM, the sample included 500 patients without cardiomyopathy and 11 patients with DCM. It was verified by Sanger sequencing that no homozygous mutation (TT) at the c.243+6A>T site of SGCB was detected in 500 non-cardiomyopathy populations, only wild-type (AA) and heterozygous mutation (AT) existed, 11 cases All patients with dilated cardiomyopathy carry homozygous mutations at this site (TT).

[0070] The test results of 500 cases of non-cardiomyopathy population are as follows:

[0071]

[0072]

[0073]

[0074] For results in non-cardiomyopathy patients, see Figure 3-4 . in image 3 One case of AA homozygosity (sample 38), Figure 4 One case of AT heterozygosity (sample 276).

[0075] The above shows that the homozygous mutation of SGCB c.243+6A>T site can be used fo...

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Abstract

The invention provides an application of gene mutation in preparation of a dilated cardiomyopathy detection kit. The gene mutation is SGCB c.243 + 6Agt; and T variation sites. SGCB c.243 + 6Ag < t >; the homozygous mutation of the T site can be used for gene diagnosis or auxiliary diagnosis of clinical dilated cardiomyopathy, genetic screening is provided for families carrying dilated cardiomyopathy pathogenic variation, and the possibility is provided for realizing prenatal and postnatal rearing.

Description

technical field [0001] The invention belongs to the field of molecular biology, and in particular relates to a dilated cardiomyopathy gene detection marker and application thereof. Background technique [0002] Dilated cardiomyopathy (dilated cardiomyopathy, DCM) is a serious myocardial disease, the main clinical features are ventricular dilatation and systolic dysfunction leading to progressive heart failure. Dilated cardiomyopathy is the leading cause of heart failure, accounting for 40-50% of all heart failure causes. The incidence of cardiomyopathy, especially dilated cardiomyopathy, is on the rise, and the prognosis is extremely poor, with a 5-year mortality rate greater than 50.0%. Dilated cardiomyopathy can be divided into two types: familial inheritance and non-familial inheritance, and about 30-50% of dilated cardiomyopathy patients are familial. The main inheritance mode of dilated cardiomyopathy is autosomal dominant inheritance, accompanied by X-linked, autosom...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6869C12N15/11
CPCC12Q1/6883C12Q1/6869C12Q2600/156C12Q2531/113C12Q2535/101
Inventor 聂宇廉虹宋伸
Owner FUWAI HOSPITAL CHINESE ACAD OF MEDICAL SCI & PEKING UNION MEDICAL COLLEGE
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