Unlock instant, AI-driven research and patent intelligence for your innovation.

Application of SNP loci of Nodal, GDF1 genes

A site and gene technology, applied in the field of Nodal gene and GDF1 gene SNP site and related kits, can solve the problems of unconfirmed, decreased enzyme activity, unidentified, etc., and achieve the effect of good sensitivity

Inactive Publication Date: 2014-04-02
谢小冬
View PDF0 Cites 6 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

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

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Application of SNP loci of Nodal, GDF1 genes
  • Application of SNP loci of Nodal, GDF1 genes
  • Application of SNP loci of Nodal, GDF1 genes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0046] Embodiment 1, Nodal gene and CHD

[0047] 1.1 Extraction of genomic DNA (refer to kit instructions)

[0048] 1.2 Primer design and synthesis

[0049] SNP sites rs1904589 and rs10999334, rs2279253 and rs2279254 of Nodal gene were selected for PCR-DHPLC detection. The flanking sequences were retrieved through the U.S. National Library of Medicine Pubmed engine (http: / / www.ncbi.nlm.nih.gov / sites / snp), we used Premier Primer5.0 combined with Premier3.0 to design primers online, and DNAMAN6 .0.40 software testing is qualified, and then use the WAVEMAKE Software Version4.1 software to carry out DHPLC simulation detection on the fragments to be amplified with different primers, and select the most suitable primer sequence for on-board detection. The Navigator software package of the system can be used for DHPLC detection temperature Make predictions. If there is a significant difference between the chromatographic elution peaks of the test sample and the known wild-type con...

Embodiment 2

[0134] Embodiment 2, GDF1 gene and CHD

[0135] 2.1 Extraction of genomic DNA (refer to kit instructions)

[0136] 2.2 method (embodiment 1)

[0137] 2.2.1 Primer design and detection of three polymorphic sites (rs7025622, rs4808870r, s2075762)

[0138] We also used Premier Primer5.0 combined with Premier3.0 to design primers online, and the DNAMAN6.0.40 software tested the primers to be qualified, and then used the WAVEMAKE Software Version4.1 software to perform DHPLC simulation detection on the fragments to be amplified with different primers, and selected the best Primer sequences suitable for on-board detection, and use the system's Navigator software package to predict the detection temperature of DHPLC. The determined primers (Table 2-1) were synthesized by Shanghai Sangon Bioengineering Technology Service Co., Ltd. and purified by HAP.

[0139] Table 2-1 PCR amplification primers, product length, annealing and DHPLC temperature of the three SNPs of GDF1

[0140] ...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention belongs to the field of gene detection technology, and particularly relates to an application and a kit of SNP loci of Nodal, GDF1 genes. The application of SNP loci of Nodal, GDF1 genes provided by the invention is an application of SNP loci of Nodal, GDF1 genes to the preparation of a detection kit for diagnosing susceptibility to congenital heart disease. The invention discovers, for the first time, that rs2279253 and rs2279254 in the 3' UTR region of the SNP locus of Nodal gene and rs4808870 of GDF1 gene are related to congenital heart disease. Therefore, based on the above discovery, a method and a kit for detecting susceptibility risk to congenital heart disease by using SNP are provided, and clinical experiment research verifies that the detection method is feasible, and the detection kit of the invention has good sensitivity, stability and specificity. The detection kit of the invention is applicable to susceptibility screening to congenital heart disease for normal people, and has effective effects on risk pre-warning and early diagnosis.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and specifically relates to the use of Nodal gene and GDF1 gene SNP sites and related kits. Background technique [0002] Congenital heart disease (CHD), referred to as congenital heart disease, refers to the abnormality of the local anatomy caused by the formation of the heart and great blood vessels during the embryonic development period, or the failure of the channel that should be automatically closed after birth to cause damage to the heart function. A group of congenital malformations with actual or potential effects. Congenital heart disease is the most common congenital defect disease. In my country, the incidence rate of congenital heart disease in live births is 6‰-9‰, and it is as high as 5%-10% in spontaneous abortion babies. The overall incidence rate is 4 ‰~10‰, 150,000-200,000 children with congenital heart disease are born every year nationwide. The overall incidence of c...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 谢小冬苏刚李培强吴骅李炯孙晓玮
Owner 谢小冬