A dna library for detecting and diagnosing pathogenic genes of hereditary cardiomyopathy and its application

Abstract

The invention discloses a DNA library for detection of hereditary cardiomyopathy causing gene mutation through the targeting high-flux semiconductor sequencing technology and application thereof. Specifically, a primer pool is designed according to 80 hereditary cardiomyopathy causing genes, super-multiple PCR amplification is performed on sample genome DNA, and an amplified product is sequenced through the high-flux semiconductor sequencing technology to find pathogenic mutation so as to provide genetic and molecular biological theoretical bases for clinical diagnosis. The DNA library has the advantages of being accurate, quick, flexible and low in cost; through 80 gene detection areas related to the DNA library, five kinds of common hereditary cardiomyopathy including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy and left ventricular myocardial densification incomplete cardiomyopathy can be detected, and the DNA library has an important meaning and clinical value for diagnosis and differential diagnosis of the hereditary cardiomyopathy.

Description

technical field [0001] The invention relates to a DNA library for detecting and diagnosing pathogenic genes of hereditary cardiomyopathy by targeted high-throughput semiconductor sequencing technology and its application. Specifically, based on the pathogenic genes of hereditary cardiomyopathy, design supermultiplex PCR primers that can cover the exons and adjacent regions of the above genes, and perform supermultiplex PCR amplification on the sample genomic DNA, and use high-throughput sequencing technology to amplify the products Sequencing, searching for pathogenic mutations, clarifying the genetic etiology of hereditary cardiomyopathy, and providing a theoretical basis for genetics and molecular biology for clinical diagnosis belongs to the gene detection technology in the clinical detection technology in the field of biomedicine. Background technique [0002] Hereditary cardiomyopathy is a group of diseases mainly characterized by direct myocardial involvement, mainly i...

AI Technical Summary

Problems solved by technology

At the same time, the traditional gene detection method based on Sanger sequencing has the disadvantage of low throughput, and only one amplification region can be detected in one reaction, which cannot meet the requirements of huge gene detection area and multi-sample detection timeliness

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