Thrombus and hemorrhagic disease gene diagnosis method

Abstract

The invention discloses a thrombus and hemorrhagic disease gene diagnosis method. All currently known 156 related genes which directly or indirectly influence blood coagulation can be comprehensivelyand systematically analyzed at a time, and key points can be placed in areas, closely related to diseases, in human genomes to find out pathogenic mutations. Most of gene variations such as point mutation, small fragment and large fragment insertion and deletion, copy number change and the like are widely screened, covered and mutated for genes involved in a blood coagulation factor system, a platelet system, a fibrinolytic system, an endothelial system, an inflammatory system, a metabolic system and an anticoagulation system at a time. Compared with other popular whole-genome sequencing technologies at present, the method is superior to whole-genome sequencing in indexes such as thrombus-related target area coverage, effective data volume, capture efficiency data utilization rate, averagesequencing depth and repetition rate, and can effectively improve the diagnosis rate of thrombotic diseases and hemorrhagic diseases.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a gene diagnosis method for thrombosis and hemorrhagic diseases. Background technique [0002] Thrombotic and hemorrhagic diseases are a series of diseases that are prone to thrombosis or hemorrhage due to changes in blood coagulation status caused by polygenic environmental factors. Blood hypercoagulability can easily lead to thrombotic diseases, such as: deep vein thrombosis and pulmonary thromboembolism in the lower extremities after orthopedics and obstetrics and gynecology surgery, coronary embolism and acute myocardial infarction in the Department of Cardiology, cerebral infarction and cranial infarction in the Department of Neurology Internal venous sinus thrombosis. In contrast, hypocoagulable states lead to bleeding tendencies, such as hemophilia A, von Willebrand disease and so on. Thrombosis and hemorrhagic can affect various organ systems of the whole body, involve vari...

AI Technical Summary

Problems solved by technology

[0009] The purpose of the present invention is to provide a gene diagnosis method for thrombosis and hemorrhagic disease, to solve the problem that the existing gene diagnosis method for hemorrhagic disease detects a small number of gene mutation expansion genes, low diagnosis rate of etiology diagnosis, unstable detection, difficult detection and cycle time. The problem of high cost

[0011] In order to realize the above-mentioned gene diagnosis method for thrombosis and hemorrhagic diseases and solve the problems of small number of gene mutations and extended genes detected by the existing genetic diagnosis methods for hemorrhagic diseases, low disease diagnosis rate, unstable detection, difficult detection and high cycle time and high cost, the present invention The following technical solution is provided: a genetic diagnosis method for thrombosis and hemorrhagic diseases, comprising the following steps:

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