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Hypertrophic type cardiomyopathy PRKAG2 gene mutation and detecting method thereof

A technology for hypertrophic cardiomyopathy and detection methods, which is applied in the directions of genetic engineering, plant genetic improvement, botanical equipment and methods, etc., can solve problems such as the analysis of pathogenic genes in families without ventricular pre-excitation

Inactive Publication Date: 2008-03-05
SECOND MILITARY MEDICAL UNIV OF THE PEOPLES LIBERATION ARMY +1
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Problems solved by technology

However, domestic research on the genetics of Chinese HCM is obviously insufficient, and there is no analysis of the relevant pathogenic genes of the Chinese Han family with myocardial hypertrophy combined with abnormal conduction system and ventricular pre-excitation

Method used

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  • Hypertrophic type cardiomyopathy PRKAG2 gene mutation and detecting method thereof
  • Hypertrophic type cardiomyopathy PRKAG2 gene mutation and detecting method thereof
  • Hypertrophic type cardiomyopathy PRKAG2 gene mutation and detecting method thereof

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Experimental program
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Embodiment 1

[0026] A total of 66 probands and all family members of familial myocardial hypertrophy combined with conduction system abnormalities and ventricular pre-excitation, 22 simple HCM families, and 100 healthy controls were extracted. Blood DNA extraction kit (QIAGEN, USA) Produce Flexi Gene DNA Kit) to operate and extract DNA.

[0027] In vitro PCR amplification of PRKAG2 gene exons, the reaction solution is 2μL 10×PCR Buffer, 0.3μl 20μM primers, 0.6μl 10mM dNTP mix, 1.2μL 25mM MgCl 2 , 1U Taq enzyme, add ddH 2 O to 20μl, 20ng / μl DNA template 1μl, reaction conditions: 95°C for 15 minutes; 94°C for 40 seconds, 63°C for 1 minute, minus 0.5°C for each cycle, 72°C extension, a total of 10 cycles; then denatured at 94°C for 40 Seconds, annealing at 57°C for 1 minute, extension at 72°C, a total of 30 cycles; extension at 72°C for 10 minutes. After amplification, perform electrophoresis and resin resin purification of PCR products, and perform DNA sequencing analysis. The PCR reaction...

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Abstract

The present invention relates to PRKAG2 gene mutation of hypertrophic cardiomyopathy and its detection method. The PRKAG2 gene mutation is the G-->A heterozygous mutation of the No. 298 place base in the 3rd exon of PRKAG2 gene, and causes the coded amino acid in No. 100 place to change from glycine (G) to serine (S). Its detection method includes the following steps: 1. extracting peripheral blood DNA; 2. in vitro PCR amplification of PRKAG2 gene exon; and 3. DNA sequencing analysis. The discovery of the PRKAG2 gene mutation can define the molecular genetic mechanism of Chinese familial hypertrophic cardiomyopathy combined with conducting system abnormality and ventricle pre-exciting disease further.

Description

technical field [0001] The invention belongs to the field of gene mutation of hypertrophic cardiomyopathy and its detection method, in particular relates to PRKAG2 gene mutation and its detection method. Background technique [0002] Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric hypertrophy of the left ventricle and / or right ventricle and interventricular septum, with various clinical manifestations ranging from asymptomatic to amaurosis, syncope, angina pectoris, severe heart failure and sudden death. HCM is the most common cause of sudden cardiac death in young people, and the prevalence rate of adults in my country is 80 / 100,000 (2004). [0003] So far, the etiology and pathogenesis of HCM are not very clear. Epidemiological data show that about 50% of HCM patients are clustered in families, and genetic factors play a very important role in the pathogenesis. With the rapid development of molecular biology and the completion of the Human Genome Project, ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12Q1/68
Inventor 郑兴张静黄薇王莹王洪如
Owner SECOND MILITARY MEDICAL UNIV OF THE PEOPLES LIBERATION ARMY
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