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

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...

AI Technical Summary

Problems solved by technology

Traditional biomarkers have poor specificity in predicting and diagnosing aortic dissection

The traditional imaging examination diagnosis method has problems such as late diagnosis (after the onset of symptoms) and difficulty in judging the prognosis.

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