Deoxyribonucleic acid (DNA) library for detecting and diagnosing disease-causing genes of ion channel diseases and application thereof

Abstract

The invention discloses a deoxyribonucleic acid (DNA) library for detecting disease-causing genes of ion channel diseases by using a targeted high-flux semiconductor sequencing technology and application thereof. In particular, a primer pond is designed according to 74 disease-causing genes of ion channel 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 bases on the aspects of genetics and molecular biology for clinical diagnosis.. The DNA library has the characteristics of accuracy, rapidness, flexibility and low cost. Through 74 gene detection areas, various common fatal ion channel diseases such as long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, familial atrial fibrillation, sick sinus syndrome and cardiac conduction block can be detected. The DNA library has important significance and a clinical value to diagnosis and identification of the ion channel diseases.

Description

technical field [0001] The invention relates to a DNA library for detecting and diagnosing ion channelopathy pathogenic genes through targeted high-throughput semiconductor sequencing technology and its application. Specifically, according to the causative gene of ion channel disease, super multiplex PCR primers that can cover the exons of the above genes and adjacent regions are designed, and the genomic DNA of the sample is subjected to super multiplex PCR amplification, and the amplified products are analyzed using high-throughput sequencing technology. Sequencing, looking for pathogenic mutations, clarifying the genetic etiology of channelopathies, and 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] Ion channels are a special kind of hydrophilic protein on cell membranes and organelles. They are t...

AI Technical Summary

Problems solved by technology

However, the traditional Sanger sequencing-based gene detection method has the disadvantage of low throughput, and only one amplified region can be detected in one reaction, which cannot meet the requirements of a large genetic detection area and multi-sample detection timeliness

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