Marfan syndrome, related gene detection method and device and storage medium

Abstract

The invention discloses a Marfan syndrome, related gene detection method and device and a storage medium, and the method comprises the following steps: a target sequence acquisition step: adopting PCR amplification to acquire seven target gene sequences from a genome sequence of a sample to be detected; a sequencing step: performing high-throughput sequencing on the obtained seven target gene sequences; a reo-hit interpretation step: acquiring variation information according to the high-throughput sequencing result, annotating each variation by adopting a human frequency database, a disease database, a variation database and pathogenicity prediction software, acquiring at least 50 evaluation parameters of each variation, converting the evaluation parameters into 28 evaluation parameters of an ACMG guide, and acquiring pathogenicity evaluation information of the to-be-detected sample; and a report generation step: outputting a report according to a result of the reo-hit interpretation step. According to the application, related gene detection of the Marfan syndrome is completed only through high-throughput sequencing panel of seven genes, so that the gene detection cost of the Marfan syndrome is reduced, and the disease screening efficiency of the Marfan syndrome is greatly improved.

Description

technical field [0001] The present application relates to the field of Marfan syndrome gene detection, in particular to a detection method, device and storage medium for Marfan syndrome and related genes. Background technique [0002] Marfan syndrome is an inherited connective tissue disorder. Patients are usually tall and thin, with long fingers, hands, and toes, such as spider fingers. In addition, Marfan syndrome is complicated by heart and aortic disease, which makes patients suffer from mitral valve disease. High risk of prolapse and large aneurysm, sudden death. [0003] Existing studies have shown that Marfan syndrome is mainly caused by pathogenic variants in the FBN1 gene, which represents approximately 90% of Marfan syndrome patients and carriers. However, the current industry lacks a single genetic detection method for Marfan syndrome, and most of them include it in a high-throughput sequencing panel of hundreds of genes. Therefore, the detection cost of Marfan ...

AI Technical Summary

Problems solved by technology

However, the current industry lacks a single genetic detection method for Marfan syndrome, and most of them include it on a high-throughput sequencing panel of hundreds of genes

Therefore, the detection cost of Marfan syndrome is too high, and it is not suitable for large-scale population screening

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