Gene combination for screening hereditary heart disease and application thereof

A gene combination and heart disease technology, applied in the fields of biological genes and medicine, can solve problems such as unfavorable results and lack of standardization of analysis tools, and achieve the effect of balanced detection efficiency, high cost performance and low cost
CN110863045APending Publication Date: 2020-03-06深圳瑞奥康晨生物科技有限公司
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
深圳瑞奥康晨生物科技有限公司
Publication Date
2020-03-06

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Abstract

The present invention provides gene combinations for screening hereditary heart disease. The gene combination is composed of fourteen genes including MYH7, MYBPC3, TNNT2, TNNI3, LMNA, DSP, SCN5A, DSG2, PKP2, KCNH2, KCNQ1, RYR2, FBN1 and LDLR. The invention also provides application of the gene combination in preparation of a reagent for detecting hereditary heart disease. Compared with traditionalmulti-gene panel methods, the method for screening the hereditary heart disease by adopting the gene combination has the advantages that the number of detected genes and the detection cost are remarkably low, and the detection coverage and accuracy are not remarkably reduced. Based on high-throughput sequencing for screening hereditary heart diseases and preventing sudden death risks, the gene combination has the advantages of being low in cost and high in cost performance, the cost and detection efficiency are balanced, the gene combination is suitable for general screening of large-scale populations, and the low-cost detection technology can benefit most populations.
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Description

technical field

[0001] The invention relates to the technical fields of biological genes and medicine, in particular to a gene combination for screening hereditary heart disease and the use of the gene combination in preparing reagents for detecting hereditary heart disease. Background technique

[0002] The main causes of sudden cardiac death are coronary heart disease (about 50%), hereditary heart disease (about 20%) and myocarditis (about 15%). Among them, hereditary heart disease can be screened through genetic testing to detect the subject's own risk of sudden death from a genetic perspective.

[0003] At present, the industry's genetic testing methods for hereditary cardiovascular diseases, including hereditary heart disease, focus on high-throughput sequencing panels of hundreds of genes. Although this method is guaranteed for the comprehensiveness of detection and is suitable for clinical diagnosis of difficult diseases, the cost is too high and it is not suitable f...

Claims

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