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Use of SNP site of FoxH1 gene

A technology of foxh1 and 1.foxh1, which is applied to the use of FoxH1 gene SNP sites and related kits, can solve the problems of unconfirmed, undetermined, decreased enzyme activity, etc., and achieve the effect of good sensitivity

Inactive Publication Date: 2014-02-05
谢小冬
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Problems solved by technology

At present, studies on the association between single nucleotide polymorphisms and congenital heart disease are focused on the detection of candidate gene polymorphisms, such as the study of folic acid metabolism pathway genes and susceptibility to congenital heart disease. A SNP (C677T) in the important methylenetetrahydrofolate reductase gene results in reduced enzyme activity, but this conclusion was not confirmed in a meta-analysis
In addition, vascular endothelial growth factor (VEGF) has been shown to be a key gene for normal heart development, and three SNPs of VEGF (C2578A, G1154A, C634G) are considered to be related to 22q11 deletion syndrome, TOF and VSD, but the same as MTHFR , Meta-analysis still failed to confirm the relationship between them, which may be related to sample size, gene frequency, statistical power and heterogeneity of congenital heart disease phenotypes

Method used

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  • Use of SNP site of FoxH1 gene
  • Use of SNP site of FoxH1 gene
  • Use of SNP site of FoxH1 gene

Examples

Experimental program
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Embodiment 1

[0058] 1.1 DNA was extracted with phenol chloroform;

[0059] 1. Before extracting DNA, sterilize the items and reagents required for DNA extraction by high-pressure steam at 121°C for 15-20min. For example: EP tube, pipette tip, white blood cell lysate, small beaker, red blood cell lysate, sodium acetate solution, TE buffer, and dry in an oven at 65°C.

[0060] 2. Transfer the blood sample (EDTA anticoagulant treatment) from -20°C refrigerator to room temperature (equivalent to an air bath) half an hour before DNA extraction, and let it melt slowly.

[0061] 3. Mix whole blood, take 500ml blood sample into 2ml FP tube, add 2-3 times the volume of red blood cell lysate, turn it upside down, shake it for 5 minutes, put it in the refrigerator for about 2 minutes (equivalent to ice bath), centrifuge after 2 minutes ( 12000rpm10min) to remove the supernatant.

[0062] 4. Add the same amount of erythrocyte lysate from the previous step to resuspend the pellet and centrifuge again...

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Abstract

The invention discloses a use of an SNP site of an FoxH1 gene. The use means an application of the SNP site rs750472 of the FoxH1 gene in the preparation of a congenital heart disease susceptibility diagnosis kit. The detection kit has a good sensitivity, stability and specificity. The kit has effective risk early-warning and early-stage diagnosis effects when the kit is used for the congenital heart disease susceptibility screening of fetuses in abdominal cavities of pregnant women.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and specifically relates to the use of FoxH1 gene SNP sites and related kits. Background technique [0002] Congenital heart disease (abbreviated as congenital heart defects, CHDs) refers to the deformity caused by the developmental defects or partial developmental arrest of the heart and great vessels in the mother during the fetal development period (within the first 2-3 months of pregnancy), Or a birth defect disease in which the channel that should be automatically closed after birth fails to close (it is normal in the fetus). Congenital heart disease (hereinafter referred to as CHDs) is one of the most common diseases among all human birth defects. According to foreign data, the incidence rate of CHDs is 1‰, and the domestic statistics show that the incidence rate accounts for 6.87‰~14.39‰ of newborn babies. [0003] There are many types of congenital heart disease, including simple an...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 谢小冬苏刚李培强吴骅李炯陈晶晶
Owner 谢小冬
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