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Gene fam71a related to congenital heart disease and its application

A technology of FAM71A and congenital heart disease, applied in the fields of molecular biology and medicine, can solve the problems that the correlation between FAM71A gene and congenital heart disease has not been confirmed, and the correlation between FAM71A gene and congenital heart disease has not been confirmed.

Active Publication Date: 2016-08-17
SHANGHAI INST OF BIOLOGICAL SCI CHINESE ACAD OF SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] Although there have been many studies on various gene variations and congenital heart disease, there is no report confirming the correlation between FAM71A gene and congenital heart disease, let alone the report confirming the correlation between SNV of FAM71A gene and congenital heart disease

Method used

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  • Gene fam71a related to congenital heart disease and its application
  • Gene fam71a related to congenital heart disease and its application
  • Gene fam71a related to congenital heart disease and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0141] 1.1 Sample preparation

[0142] Blood samples from 217 patients with congenital heart disease were collected from tertiary hospitals in Hebei Province. All patients were diagnosed by experienced cardiologists, and the clinical phenotype was determined by standard echocardiography and other tests. Fully understand and collect patient clinical information and family medical history. Three of the 217 had Down syndrome and none of the other 214 had any syndrome. Most patients had undergone cardiac catheterization.

[0143] All patients or their guardians were fully informed and agreed to collect their blood samples for genetic research. This study was also approved by the Ethics Committee of the Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences.

[0144] The control samples (500 cases) were collected from normal people who were clinically determined not to suffer from congenital heart disease, and informed and agreed t...

Embodiment 2

[0184] Congenital Heart Disease Susceptibility Detection Kit

[0185] As described in Example 1, the mutations shown in Table 1 of SEQ ID NO: 1 are closely related to congenital heart diseases. Therefore, FAM71A gene-specific primers can be designed based on these mutations and detected by amplification using the patient's DNA as a template.

[0186] Prepare a test kit (100 person-times), which contains:

[0187]

[0188] A test group composed of 100 individuals was randomly selected, including subjects who were unknown whether they had congenital heart disease, patients who were known to have congenital heart disease, and normal people who had been tested without congenital heart disease.

[0189] Take 3ml of peripheral blood from the subject to be tested in the test group, and use conventional methods (or use a specific kit) to extract DNA from the blood. Dilute the PCR primers in the congenital heart disease detection kit to 2 μmol / μl, and use the extracted DNA as a te...

Embodiment 3

[0195] Auxiliary testing for congenital heart disease susceptibility

[0196] Prepare a test kit (300 person-times), which contains:

[0197]

[0198] Repeat the detection of Example 2, the difference is that 180 people's samples were randomly selected (whether they had congenital heart disease symptoms before the detection) for detection. Among them, some samples are blood samples (the preparation method is the same as in Example 1), and some samples are amniocentesis samples.

[0199] Preparation of amniotic fluid samples: Amniocentesis is used to collect amniotic fluid to obtain amniotic fluid cells for candidate gene mutation analysis. DNA is extracted from the amniotic fluid using conventional methods (or using specific kits).

[0200] The PCR primers in the congenital heart disease detection kit were diluted to 2 μmol / μl, and the DNA of each sample extracted was used as a template to carry out PCR reaction with the provided primers. After purification of PCR produc...

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Abstract

The invention discloses a congenital heart defect (CHD)-related gene family with sequence similarity 71, member A (FAM71A) and an application thereof and in particular provides a method for detecting CHD susceptibility. The method comprises the step of detecting whether the gene FAM71A, transcript and / or protein of an individual undergo variations compared with the normal gene FAM71A, transcript and / or protein, wherein the individual is more likely to suffer from CHD than normal people if variations exist. The invention also discloses a corresponding detection kit, especially a prenatal diagnosis kit.

Description

technical field [0001] The present invention relates to the fields of molecular biology and medicine. More specifically, it relates to the single nucleotide variation (single nucleotide variation, SNV) of the congenital heart disease-related gene FAM71A (English: family with sequence similarity 71, member A, FAM71A for short) and its correlation with congenital heart disease. The invention also relates to methods and kits for detecting these SNVs. Background technique [0002] Congenital heart disease (Congenital Heart Defeats, CHD) is a congenital malformation caused by abnormal development of the fetal heart and great vessels, and is one of the most common congenital malformations. Due to the serious condition, many comorbidities and complicated treatment, it is also one of the most common defects leading to neonatal death. The incidence of CHD in the fetus is as high as 50‰. According to the analysis of the causes of death of infants under 1 year old and children aged ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/12C07K14/47
Inventor 孔祥银林彬胡兰靛
Owner SHANGHAI INST OF BIOLOGICAL SCI CHINESE ACAD OF SCI
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