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Detection kit and detection method for polymorphism of TBX5 gene

A kit and gene technology, applied in the field of molecular biology, can solve problems affecting microRNA target binding, affect target gene expression and function, and achieve high sensitivity and strong specificity

Inactive Publication Date: 2020-06-02
QILU CHILDRENS HOSPITAL OF SHANDONG UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In recent years, studies have found that SNPs in the 3' untranslated region can affect the target binding of microRNA, thereby affecting the expression and function of target genes, leading to the occurrence of related diseases

Method used

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  • Detection kit and detection method for polymorphism of TBX5 gene
  • Detection kit and detection method for polymorphism of TBX5 gene
  • Detection kit and detection method for polymorphism of TBX5 gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0077] 1. Congenital heart disease related transcription factor gene mutation detection

[0078] Congenital Heart Disease (CHD) is the most common group of birth defects in clinical practice. It is a polygenic disease caused by the interaction of environmental factors and genetic factors. Cardiac transcription factors were discovered earlier and are related to CHD. Genes, these transcription factors can regulate the encoding of cardiomyocyte structural proteins and regulate the expression of protein genes, which are extremely important for the formation, migration and differentiation of cardiomyocytes, the development of heart valves and interventricular septum, etc. Various transcription factors jointly regulate the expression of downstream genes. Therefore, understanding and understanding the role of CHD-related transcription factors in the occurrence of CHD is of great significance for assessing the risk of CHD and preventing the occurrence of CHD.

[0079]In the previous w...

Embodiment 2

[0105] Using the detection method described in Example 1, 153 cases of children with congenital heart disease (case group) and 151 cases of normal control children (control group) were genotyped at the TBX5 gene SNP rs 883079 site, and found and carried Compared with the G / G wild homozygous genotype, individuals carrying the mutant homozygous genotype A / A had a significantly higher chance of suffering from congenital heart disease, with an OR of 2.424 (95%CI=1.181-4.975, P=0.01442), A / A may be the risk genotype of congenital heart disease, the results are shown in Table 1:

[0106] Table 1: The relationship between the genotype frequency of TBX5 rs 883079 and the risk of congenital heart disease

[0107]

[0108] The detection method of the present invention has the characteristics of less sample consumption, time saving, labor saving, high accuracy and low cost, can detect TBX5 gene polymorphism quickly and easily, and is used for auxiliary diagnosis of congenital heart di...

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Abstract

The invention relates to a detection kit and detection method for polymorphism of a TBX5 gene, and belongs to the technical field of molecular biology. The kit comprises an upstream primer and a downstream primer for detecting the genotype of a SNP locus rs883079 of the TBX5 gene, a G / G type positive reference substance, an A / A type positive reference substance, a G / A type positive reference substance and other necessary reagents for realizing the functions of the kit. The detection method disclosed by the invention has the characteristics of small sample consumption, reduction in time and labor, high accuracy and low cost, and can be used for rapidly, simply and conveniently detecting the polymorphism of the TBX5 gene.

Description

technical field [0001] The invention relates to a TBX5 gene polymorphism detection kit and a detection method thereof, belonging to the technical field of molecular biology. Background technique [0002] Congenital heart disease (CHD) is a cardiovascular malformation caused by abnormal development of heart and blood vessels in the fetus, and it is also the most common heart disease in children. Abnormalities in structure, function, or metabolism. Domestic and foreign studies have reported that CHD accounts for 1 / 3 of birth defects. According to the latest statistics from WHO, about 1.5 million newborns in the world suffer from heart disease every year. The incidence rate of congenital heart disease in China is about 2‰~5‰, and there are 150,000 to 200,000 new cases of congenital heart disease every year, and its incidence rate reaches 0.4%~0.8% among newborns. It is the type of birth defect with the highest incidence rate. , with a higher incidence in reported cases of pre...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2600/172C12Q2600/166C12Q2531/113C12Q2527/107C12Q2545/114
Inventor 刘毅盖中涛王莹张海燕
Owner QILU CHILDRENS HOSPITAL OF SHANDONG UNIV