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Expanding cardiomyopathy LMNA gene mutation and detecting method thereof

A technology for dilated cardiomyopathy and detection methods, applied in genetic engineering, plant genetic improvement, botany equipment and methods, etc., can solve rare pathogenesis and other problems

Inactive Publication Date: 2008-03-05
SECOND MILITARY MEDICAL UNIV OF THE PEOPLES LIBERATION ARMY +1
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  • Application Information

AI Technical Summary

Problems solved by technology

However, there are obvious deficiencies in domestic genetic research on Chinese DCM. There are few molecular genetic reports on the pathogenesis, and there is no report on the Q293X mutation of the LMNA gene in a family with familial dilated cardiomyopathy combined with abnormal conduction system.

Method used

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  • Expanding cardiomyopathy LMNA gene mutation and detecting method thereof
  • Expanding cardiomyopathy LMNA gene mutation and detecting method thereof
  • Expanding cardiomyopathy LMNA gene mutation and detecting method thereof

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Experimental program
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Embodiment 1

[0022] A total of 44 probands and all family members of the family with familial dilated cardiomyopathy combined with abnormal conduction system, 102 sporadic DCM cases, and 300 healthy controls were extracted. Blood DNA extraction kit (Flexi Gene DNA Kit) to extract DNA.

[0023] In vitro PCR amplification of LMNA 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 system in the sequencing reaction includes 0.8μM seque...

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Abstract

The present invention relates to LMNA gene mutation of dilated cardiomyopathy and its detection method. The LMNA gene mutation is the C-->T heterozygous mutation of the No. 877 place base in the 5th exon of LMNA gene, and causes the coded amino acid in No. 293 place to change from glutamine (Q) to termination codon (X). Its detection method includes the following steps: 1. extracting peripheral blood DNA; 2. in vitro PCR amplification of LMNA gene exon; and 3. DNA sequencing analysis. The discovery of the LMNA gene mutation can define the molecular genetic mechanism of dilated cardiomyopathy combined with conducting system abnormality further.

Description

technical field [0001] The invention belongs to the field of gene mutation of dilated cardiomyopathy and its detection method, in particular relates to LMNA gene mutation and its detection method. Background technique [0002] Dilated cardiomyopathy (DCM) is a myocardial disease characterized by enlarged heart chambers (left ventricle and / or right ventricle) and myocardial systolic dysfunction. sudden death. In the United States, heart failure caused by DCM accounts for more than 50% of heart failure patients, and refractory heart failure caused by DCM is also one of the main indications for heart transplantation at home and abroad. The annual survival rate was 65.3%. [0003] The etiology and pathogenesis of DCM are not very clear so far, and it can be idiopathic, viral infection, alcoholic or toxic. In recent years, family investigations have found that 35-48% of patients have a family genetic tendency. At least 22 pathogenic genes have been found to be related to the p...

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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