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Low frequency SNV marker associated with sporadic non-syndromic CHD (congenital heart disease) auxiliary diagnosis and application of low frequency SNV (single nucleotide variant) marker

A technology for auxiliary diagnosis and syndrome, applied in the field of genetic engineering and reproductive medicine

Active Publication Date: 2015-01-07
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 low-frequency high-penetrance genetic markers in the diagnosis of sporadic non-syndromic congenital heart disease. Dominant genetic markers as biomarkers, and the development of corresponding diagnostic kits, will be a powerful impetus to the current situation of sporadic non-syndromic congenital heart disease diagnosis in my country, and also for drug screening, drug efficacy evaluation and Targeted therapy opens up new avenues

Method used

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  • Low frequency SNV marker associated with sporadic non-syndromic CHD (congenital heart disease) auxiliary diagnosis and application of low frequency SNV (single nucleotide variant) marker
  • Low frequency SNV marker associated with sporadic non-syndromic CHD (congenital heart disease) auxiliary diagnosis and application of low frequency SNV (single nucleotide variant) marker
  • Low frequency SNV marker associated with sporadic non-syndromic CHD (congenital heart disease) auxiliary diagnosis and application of low frequency SNV (single nucleotide variant) marker

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0068] The collection of embodiment 1 sample and the arrangement of sample data

[0069] The inventor collected a large number of blood samples from patients with sporadic 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 has selected 7937 samples that meet the following criteria from the whole exome chip scan and the experimental sample of Sequenom MassARRAY genotyping:

[0070] 1. Patients with non-syndromic congenital heart disease diagnosed by echocardiography, cardiac catheterization or surgery;

[0071] 2. Exclude patients with congenital abnormalities and chromosomal abnormalities in other organs;

[0072] 3. Exclude first-degree relatives with congenital heart disease, mothers with diabetes, phenylketonuria, mothers exposed to teratogens (such as pesticides or organic solvents) and taking drugs...

Embodiment 2

[0075] Example 2 Whole Exome Scanning of Low Frequency and High Penetrance Genetic Markers in Peripheral Blood DNA

[0076] Among the 984 eligible patients with sporadic non-syndromic congenital heart disease and 2953 healthy controls, the two groups were matched in age and gender. These two groups of people were passed through Illumina Human Exome Beadchip (Illumina Inc., San Diego, CA) chip detection obtained relevant results. The specific steps are:

[0077] 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.

[0078] 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 ...

Embodiment 3

[0089] Example 3 Sequenom MassARRAY Genotyping of Low Frequency and High Penetrance Genetic Markers

[0090] The low-frequency and high-penetrance genetic markers found to be associated with congenital heart disease in the above-mentioned whole exome scan were detected in another 2000 cases of sporadic non-syndromic congenital heart disease and 2000 healthy controls. The steps are:

[0091] 1. Add the hemolysis reagent to the peripheral blood stored in the 2ml cryopreservation tube, mix it upside down and transfer it completely.

[0092] 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.

[0093] 3. Extract DNA: Add 1ml of extract solution and 8μl of proteinase K to the precipitate, fully oscillate and mix on a shak...

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Abstract

The invention belongs to the field of genetic engineering and reproductive medicine and discloses a low frequency SNV marker associated with sporadic non-syndromic CHD (congenital heart disease) auxiliary diagnosis and an application of the low frequency SNV marker. The marker is a combination of 41 low frequency SNVs such as rs75423398, rs7527798, rs200531164, rs6756629, rs139026854, rs79043251, rs1801212, rs4956145, rs7689099, rs145248317, rs34525648, rs16891235, rs13194053, rs41269281, rs41270593, rs3130250 and rs3130379. The marker can be used for preparing a sporadic non-syndromic CHD auxiliary diagnosis kit.

Description

field of invention [0001] The invention belongs to the fields of genetic engineering and reproductive medicine, and relates to a low-frequency SNV marker related to auxiliary diagnosis of sporadic non-syndromic CHD and its application. 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 m...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/68
Inventor 胡志斌沈洪兵沙家豪陈亦江林苑许晶
Owner NANJING MEDICAL UNIV
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