Auricular septal defected NKX2-5 gene mutation and detecting method thereof

A technology of atrial septal defect and detection method, which is applied in the fields of genetic engineering, plant gene improvement, botanical equipment and methods, etc., and can solve the problems of few pathogenic gene analysis, no pathogenic gene analysis, and no definite report of FASDAVB, etc.

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

[0004] At present, there are not many foreign studies on the pathogenic gene analysis of FASDAVB, and most of them are reports on FASD

Method used

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  • Auricular septal defected NKX2-5 gene mutation and detecting method thereof
  • Auricular septal defected NKX2-5 gene mutation and detecting method thereof

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Embodiment 1

[0023] 4 mL of peripheral venous blood was collected from 20 probands and family members of a family with atrial septal defect and atrioventricular block, including 7 patients; 4 mL of peripheral venous blood was randomly selected from 24 sporadic ASD patients and 300 healthy controls. DNA was extracted according to the blood DNA extraction kit (Flexi Gene DNA Kit produced by QIAGEN, USA). In vitro PCR amplification of NKX2-5 gene exons, the reaction solution is 2μL 10×PCR Buffer, 0.3μl 20μM primer, 0.6μl 10mM dNTPmix, 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, electrophoresis and resin resin purification of PCR products were p...

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Abstract

The present invention relates to NKX2-5 gene mutation of atrial septal defect and its detection method. The NKX2-5 gene mutation is intron +1433.C-->T mutation, and has genetic coseparation to familial atrial septal defect and atrioventricular block (FASDAVB). Its detection method includes the following steps: 1. extracting peripheral blood DNA; 2. in vitro PCR amplification of NKX2-5 gene; and 3. DNA sequencing analysis. The discovery of the NKX2-5 gene mutation can define the molecular genetic mechanism of FASDAVB further.

Description

technical field [0001] The invention belongs to the field of gene mutation of atrial septal defect and its detection method, in particular relates to NKX2-5 gene mutation and its detection method. Background technique [0002] Congenital heart disease (CHD) is the main cause of death of non-infectious diseases in children, and the prevalence of CHD in newborns is as high as 1%. Atrial septal defect (ASD) is one of the common CHDs. The traditional view is that the occurrence of ASD and other CHDs is the result of the combined effects of genetic and environmental factors, but the understanding of specific genetic factors and their mechanisms of action is almost blank. Genetic factors play a decisive role in the pathogenesis of familial atrial septal defect (FASD), which is a good sample for the study of the genetic mechanism of ASD. In recent years, with the maturation of familial disease-causing gene detection technology, many scholars have carried out disease-causing gene d...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/68
Inventor 秦永文王莹黄薇王洪如黄国明张静
Owner SECOND MILITARY MEDICAL UNIV OF THE PEOPLES LIBERATION ARMY
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