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SNP marker related to auxiliary diagnosis of non-syndromic congenital heart disease and application thereof

A congenital heart disease, auxiliary diagnosis technology, applied in the field of SNP markers

Active Publication Date: 2014-12-10
NANJING MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] However, there is no report on the application of SNP in the diagnosis of non-syndromic congenital heart disease. If the SNPs that are susceptible to non-syndromic congenital heart disease can be screened as biomarkers and corresponding diagnostic kits can be developed, It will definitely be a powerful impetus to the diagnosis status of non-syndromic congenital heart disease in my country, and it will also open up a new way for its drug screening, drug efficacy evaluation and targeted therapy

Method used

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  • SNP marker related to auxiliary diagnosis of non-syndromic congenital heart disease and application thereof
  • SNP marker related to auxiliary diagnosis of non-syndromic congenital heart disease and application thereof
  • SNP marker related to auxiliary diagnosis of non-syndromic congenital heart disease and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0143] The collection of embodiment 1 sample and the arrangement of sample data

[0144] The inventor collected a large number of blood samples from patients with non-syndromic congenital heart disease from the First Affiliated Hospital of Nanjing Medical University, Nanjing Children's Hospital, and Xi'an Xijing Hospital from 2006 to 2012. After sorting out the sample data, the inventor A total of 8217 samples were selected for genome-wide microarray scanning and experimental samples for single SNP Sequenom MassARRAY genotyping that met the following criteria:

[0145] 1. Patients with non-syndromic congenital heart disease diagnosed by echocardiography, cardiac catheterization or surgery;

[0146]2. Exclude patients with congenital abnormalities and chromosomal abnormalities in other organs;

[0147] 3. Exclude first-degree relatives with congenital heart disease, mothers with diabetes, phenylketonuria, mothers exposed to teratogens (such as pesticides or organic solvents) a...

Embodiment 2

[0150] Whole Genome Scanning of SNP in Example 2 Peripheral Blood DNA

[0151] Among the 945 non-syndromic congenital heart disease patients and 1246 healthy controls who met the above conditions, the two groups were matched in age and sex. The two groups of people were detected by Affymetrix6.0 chip to obtain relevant results. The specific steps are:

[0152] 1. Add hemolysis reagent (i.e. lysate, 40 parts) to the peripheral blood stored in the 2ml cryopreservation tube. Dilute the TrisHcl solution to 2000ml, the same below), turn it upside down and mix it completely.

[0153] 2. Removal of red blood cells: Fill the 5ml centrifuge tube to 4ml with hemolysis reagent, mix by inverting, centrifuge at 4000rpm for 10 minutes, and discard the supernatant. Add 4ml of hemolysis reagent to the precipitate, invert and wash again, centrifuge at 4000rpm for 10 minutes, and discard the supernatant.

[0154] 3. Extract DNA: Add 1ml of extract solution to the precipitate (each 300ml con...

Embodiment 3

[0161] Example 3 Sequeom MassARRAY genotyping of a single SNP

[0162] The SNPs found to be related to the onset of non-syndromic congenital heart disease by the above genome-wide scan were detected in 2160 cases of non-syndromic congenital heart disease and 3866 healthy controls. The specific steps are as follows:

[0163] 1. Add the hemolysis reagent to the peripheral blood stored in the 2ml cryopreservation tube, mix it upside down and transfer it completely.

[0164] 2. Removal of red blood cells: Fill the 5ml centrifuge tube to 4ml with hemolysis reagent, mix by inverting, centrifuge at 4000rpm for 10 minutes, and discard the supernatant. Add 4ml of hemolysis reagent to the precipitate, invert and wash again, centrifuge at 4000rpm for 10 minutes, and discard the supernatant.

[0165] 3. Extract DNA: Add 1ml of extract solution and 8μl of proteinase K to the precipitate, fully oscillate and mix on a shaker, and bathe overnight at 37°C.

[0166] 4. Remove protein: add 1ml...

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Abstract

The invention belongs to the field of genetic engineering and reproductive medicine and discloses an SNP marker related to auxiliary diagnosis of non-syndromic congenital heart disease and an application thereof. The SNP marker is composed of rs3789612, rs4140836, rs13391263, rs13101737, rs1400558, rs6872396, rs13189951, rs9266596, rs7863990, rs2433752, rs7259736, rs490514, rs2474937, rs1531070, rs9533839, rs17019472, rs10182004, rs9461938, rs72759270 and rs1886441. The marker can be used for preparing an auxiliary diagnosis kit of the non-syndromic congenital heart disease.

Description

field of invention [0001] The invention belongs to the fields of genetic engineering and reproductive medicine, and relates to SNP markers related to auxiliary diagnosis of non-syndromic congenital heart disease and applications thereof. Background technique [0002] Congenital heart disease (CHD) is an abnormality in the shape, structure, function, and metabolism of the heart and blood vessels caused by obstacles in the embryonic development of the heart and blood vessels. Among many birth defects, CHD accounts for about 28%, and is the most common congenital disease. According to the data of the World Health Organization, it is generally believed that the incidence of CHD is 0.60% to 0.80% in full-term and live-born newborns, and the incidence is higher in cases of premature birth, stillbirth or abortion. According to estimates, there are more than 130,000 new CHD cases in my country every year, and CHD has become the first high-incidence deformity in perinatal infants in...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 胡志斌沈洪兵沙家豪陈亦江林苑倪碧娴
Owner NANJING MEDICAL UNIV
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