Hypertrophic cardiomyopathy and related gene detection method and device and storage medium

Abstract

The invention discloses a hypertrophic cardiomyopathy and related gene detection method and device and a storage medium. The method comprises the steps of target sequence obtaining: obtaining four target gene sequences from a genome sequence of a to-be-detected sample through PCR amplification, sequencing: carrying out high-throughput sequencing on the obtained four target gene sequences, reo-hit interpretation: acquiring variation information according to the high-throughput sequencing result, and acquiring pathogenicity evaluation information of the to-be-detected sample by adopting a human frequency database, a disease database, a variation database and pathogenicity prediction software, and report generation: outputting a pathogenicity evaluation report according to the result of the reo-hit interpretation step. The related gene detection of the hypertrophic cardiomyopathy is completed only through the high-throughput sequencing panel of the four genes, the gene detection cost of the hypertrophic cardiomyopathy is reduced, and the disease screening efficiency of the hypertrophic cardiomyopathy is greatly improved.

Description

technical field [0001] The present application relates to the field of gene detection for hypertrophic cardiomyopathy, in particular to a detection method, device and storage medium for hypertrophic cardiomyopathy and related genes. Background technique [0002] Hereditary hypertrophic cardiomyopathy (HCM) is a relatively common monogenic cardiovascular disease and one of the main causes of sudden death in adolescents. damage. Hereditary hypertrophic cardiomyopathy occurs in approximately 1 in 500, but due to the presence of asymptomatic carriers of HCM pathogenic variants, the true prevalence may be as high as 1 in 200. [0003] The genetic factors of HCM are mainly gene mutations encoding myocardial sarcomeres and related proteins, which account for more than 90% of HCM patients with pathogenic mutations; Phenotypes of syndromes and metabolic diseases. These relatively rare phenotypes are sometimes associated with extracardiac clinical manifestations, as in patients wit...

AI Technical Summary

Problems solved by technology

However, the current genetic detection methods usually use high-throughput sequencing panels with hundreds of genes. Although the comprehensiveness of genetic detection is guaranteed and it is suitable for clinical diagnosis of difficult diseases, the cost is too high and it is not suitable for large-scale populations. hypertrophic cardiomyopathy screening

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