Non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy

A kind of hypertrophic cardiomyopathy, purpose technology, applied in the direction of biochemical equipment and methods, microbial measurement/testing, DNA/RNA fragments, etc., can solve the problems that cannot meet the requirements of hypertrophic cardiomyopathy gene detection, expensive, time-consuming and labor-intensive , to achieve the effect of reducing detection cost, low cost, simple and fast method

Active Publication Date: 2016-06-22
KUNMING UNIV OF SCI & TECH
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  • Abstract
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Problems solved by technology

The application uses probe capture sequencing, which, like other traditional DNA chip hybridization and capillary electrophoresis sequencing technologies, is not only time-consuming and laborious, but also expensive, and cannot satisfy the genetic detection of hypertrophic cardiomyopathy at all.

Method used

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  • Non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy
  • Non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy
  • Non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy

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Embodiment 1

[0065] Apply the method of the present invention to 7 routine hypertrophic cardiomyopathy probands (except collecting the demographic data of HCM patients, also collecting its electrocardiogram and echocardiogram) clinically diagnosed in Department of Cardiovascular Medicine, First People's Hospital of Yunnan Province High-throughput mutation screening of 10 genes (MYH7, MYBPC3, TNNT2, TNNI3, MYH6, TPM1, ACTC1, PRKAG2, MYL2, and MYL3) to find possible pathogenic variants associated with the pathogenesis of HCM.

[0066] 1. Genome extraction: 1 ml of peripheral venous blood was extracted from 7 probands with clinically confirmed hypertrophic cardiomyopathy. After anticoagulation with EDTA, the whole genome was extracted with commercial Miniprep Kit (Axygen, USA), and agar After sugar gel electrophoresis, the concentration and OD value were determined, OD 260 / 280 Available between 1.8-2.0.

[0067] 2. Design of multiple PCR primers for target genes: According to the gene access...

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Abstract

The invention relates to the technical field of biology and particularly relates to a non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy. The method comprises the following steps: (1) extracting genomes; (2) carrying out multiplex PCR amplification on target genes; (3) constructing a target gene library; and (4) sequencing the target gene library by virtue of a next-generation semiconductor sequencing platform, and screening gene mutation sites relevant with the hypertrophic cardiac myopathy. The method is simple, convenient, rapid and low in cost, multiple samples can be detected once, the foundation is laid for the screening of the hypertrophic cardiac myopathy, and the road is exploited for the clinic molecular diagnosis.

Description

technical field [0001] The invention relates to the field of biotechnology, to medical molecular diagnosis and biotechnology, and in particular to a screening method for non-therapeutic hypertrophic cardiomyopathy-related pathogenic gene mutations. Background technique [0002] Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, mainly manifested as left ventricular asymmetric hypertrophy or myocardial wall thickening, less patients show left ventricular outflow tract obstruction, right ventricular hypertrophy or double ventricle fat. The pathological features are diffuse hypertrophy, deformity, nuclear enlargement, deep staining and myocardial fiber disorder of myocardial cells. The clinical manifestations of HCM range from no symptoms to dyspnea, syncope, chest pain and even sudden cardiac death and fatal arrhythmia. [0003] HCM is the first inherited heart disease whose etiology has been elucidated from a genetic perspective. In 1990, the fir...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6869C12Q1/6883C12Q2600/156C12Q2531/113C12Q2537/143C12Q2525/191
Inventor 夏雪山赵跃冯悦宋玉竹丁家桓
Owner KUNMING UNIV OF SCI & TECH
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