Detection method and chip for susceptibility gene of dilatant and hypertrophic cardiomyopathy

Abstract

The invention relates to a detection method and chip for a susceptibility gene of dilatant and hypertrophic cardiomyopathy. Based on a target region capture high-throughput sequencing technology, a group of specific and effective gene set associated with DCM/HCM cardiovascular disease is selected and is subjected to high-throughput capture and sequencing analysis by a self-developed probe library-building capture process and analysis software, so as to find out variation conditions of genetic level cardiovascular disease-related genes, especially DCM/HCM genes and the like, by gene means to screen the susceptibility gene. The screening result refers to the guidelines of the American College of Medical Genetics (ACMG) and the Association for Molecular Pathology (AMP) to interpret variations. Compared with conventional high-throughput sequencing, a kit has the advantages of high pertinence, low cost, fast flow and the like.

Description

technical field [0001] The invention relates to a dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) susceptibility gene detection method and chip application, which provides an important basis for the diagnosis and prevention of DCM and HCM according to the gene detection results, and belongs to the field of biology , involving medicine, biotechnology and bioinformatics. Background technique [0002] According to research conducted by the Cardiovascular Branch of the Chinese Medical Association, the prevalence rates of dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) were 36.5 / 100,000 and 19.7 / 100,000, respectively, and another study was 1 / 250 and 1 / 500, the annual incidence rates are 1.3 / 100,000 and 1.5 / 100,000 respectively, the 5-year mortality rate of DCM is 15-50%, and the mortality rate of HCM is similar to that of normal people. Cardiomyopathy generally presents a trend of increasing incidence and decreasing annual mortality. Imagi...

AI Technical Summary

Problems solved by technology

Array CGH is the gold standard for detecting copy number variation (CNV), but it cannot detect SNP and Indel variation at the same time

With the development of sequencing technology, the cost, cycle and performance of high-throughput sequencing technology have been greatly improved. Whole-exome and whole-genome sequencing has become a routine method for scientific research, which can simultaneously detect all genes on the genome. Variations in types, but the pertinence is not strong, and the amount of data is large, and the cost of each item is relatively high

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