Deoxyribonucleic acid (DNA) library for detecting disease causing genes of aoreic dissection diseases and application thereof

A technology of DNA library and aortic dissection, applied in the field of DNA library, can solve the problems of late diagnosis, poor specificity of aortic dissection, difficulty in judging prognosis, etc., achieve wide coverage, reduce cost and labor intensity, and improve timeliness Effect

Inactive Publication Date: 2016-03-30
TONGJI HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Traditional biomarkers have poor specificity in predicting and diagnosing aortic dissection
The traditional imaging examinatio

Method used

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  • Deoxyribonucleic acid (DNA) library for detecting disease causing genes of aoreic dissection diseases and application thereof
  • Deoxyribonucleic acid (DNA) library for detecting disease causing genes of aoreic dissection diseases and application thereof
  • Deoxyribonucleic acid (DNA) library for detecting disease causing genes of aoreic dissection diseases and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0057] 1. Reagents used in the method:

[0058] Ion AmpliSeq TM LibraryKit2.0, IonPGM TM TemplateOT2200Kitv3, Ion Sequencing200Kitv2, IonXpressBarcodeAdaptors1-16Kit, Ion318 TM ChipKitv2

[0059] 2. Specimen collection and storage

[0060] (1) Specimen collection: The specimen is the peripheral blood of the patient. Blood is 5ml of venous blood taken routinely, treated with EDTA anticoagulant.

[0061] (2) Storage: It can be detected immediately, stored at 4°C for one week, and stored at -80°C for more than one week.

[0062] 3. Detection steps and result analysis:

[0063] (1) Extraction of genomic DNA of specimens: DNA extraction of specimens was carried out according to the operation instructions of the blood DNA extraction kit of Tiangen Biochemical Technology (Beijing) Co., Ltd.

[0064] (2) Super multiplex PCR amplification and library building of the target detection area: the whole exons of the 33 genes involved in the present invention are used as the detecti...

Embodiment 2

[0100] In the present invention, the primer pool contains 17 aortic dissection pathogenic genes newly discovered by the inventor, as shown in the following table:

[0101]

[0102]

[0103] The newly discovered 17 aortic dissection-causing genes come from the research accumulation and family investigation of the inventors over the years. The inventors first searched through the KEGG signaling pathway and the homologous gene library among the known pathogenic genes of aortic dissection, and searched for homologous genes of known pathogenic genes and key genes on the same pathogenic pathway. Then, targeted high-throughput sequencing of candidate disease-causing genes was carried out in the large-scale case sample bank of Chinese Han patients accumulated over the years, and bioinformatics analysis was performed to screen and find disease-causing mutations. Cases with pathogenic mutations were screened for follow-up and further family analysis, and the entire family of the p...

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Abstract

The invention discloses a deoxyribonucleic acid (DNA) library for detecting disease causing genes of aoreic dissection diseases through a targeted high-flux semiconductor sequencing technology and application thereof. In particular, a primer pond is designed according to 33 disease-causing genes of aoreic dissection diseases, a sample genome DNA is subjected to super-multiple polymerase chain reaction (PCR) amplification, and amplification products are sequenced by using the high-flux semiconductor sequence technology in order to find disease-causing mutation and lay theoretical bases on the aspects of genetics and molecular biology for clinical diagnosis. The DNA library has the advantages of accuracy, rapidness, flexibility and low cost. Through 33 gene detection areas, various common aoreic dissection relevant diseases such as familial aortic aneurysms or dissections (FTAAD), Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS) and aortic torsion syndrome (ATS) can be detected. The DNA library has important significance and a clinical value to diagnosis and identification of the aoreic dissections.

Description

technical field [0001] The invention relates to a DNA library for detecting and diagnosing disease-causing genes of aortic dissection through a targeted high-throughput semiconductor sequencing technology and an application thereof. Specifically, according to the pathogenic genes of aortic dissection, supermultiplex PCR primers that can cover the exons and adjacent regions of the above genes are designed, and supermultiplex PCR amplification is performed on the sample genomic DNA, and the amplified products are analyzed using high-throughput sequencing technology. Sequencing, looking for pathogenic mutations, clarifying the genetic etiology of aortic dissection, providing a theoretical basis for genetics and molecular biology for clinical diagnosis, belongs to the genetic testing technology in the clinical testing technology in the field of biomedicine. Background technique [0002] Aortic dissection is a relatively common aortic disease in the cardiovascular system that ser...

Claims

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Application Information

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IPC IPC(8): C40B40/06C12Q1/68
CPCC12Q1/6874C12Q1/6883C12Q2600/156C12Q2600/16C12Q2537/143C12Q2563/185C12Q2565/501
Inventor 汪道文李宗哲
Owner TONGJI HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI TECH
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