Detection kit for Thrombophilia-related gene mutation

Abstract

The invention discloses a detection kit for Thrombophilia-related gene mutation. The detection kit comprises ddH2O, 10*buffer (Takara), 2*GC buffer I, dNTP, MgCl2, HSTaq, multiplex PCR primer mixed liquid, Illumina I5 / I7 primer series reagents. The detection kit has the advantages that the detection kit uses the multiplex PCR enriching next generation sequencing technology to comprehensively and systematically detect the point mutation of all exons and control regions of 18 genes which include PROC, PROS1, THBD, PROCR, F5, AT3, HCF2, F2, F7, F8, F9, F10, F11, F12, PLG, ADAMTSl3, HRG and TFPI and performs detection aiming at the specific polymorphic sites of three genes which include PLAT, FGG and HABP2; the detection kit is used for biological researches and molecularly diagnosing the Thrombophilia caused by the defects of the genes above; the detection kit is wide in detection range, high in throughput, fast and accurate in detection method, high in detection accuracy, low in cost, and the like.

Description

technical field [0001] The invention relates to a gene mutation detection kit, in particular to a thrombosis-related gene mutation detection kit. Background technique [0002] In recent years, with the increase in the incidence of thrombophilia in the Chinese population, people's awareness and attention to its risk have gradually increased. Thrombophilia is a pathological state prone to thromboembolism, generally caused by genetic or acquired defects of anticoagulant proteins, coagulation factors, plasminogen, or other acquired risk factors. The outstanding performance of patients is prone to thrombosis. Although both arteries and veins can be involved, venous thromboembolism (VTE) is more common, among which deep venous thromboembolism (DVT) and pulmonary embolism are the most common Thrombosis type. The occurrence of VTE seriously affects the quality of life of patients, even life-threatening. Although both acquired and genetic risk factors can lead to the occurrence of...

AI Technical Summary

Problems solved by technology

Therefore, protein defects caused by gene mutations of related proteins in this system may cause impairment of anticoagulant function and lead to thrombosis

[0004] 2. Antithrombin deficiency

[0005] 3. Abnormal coagulation factors

Clinically, the lack of blood coagulation factors generally causes bleeding, but studies have found that some mutant proteins of blood coagulation factors have enhanced procoagulant activity, which leads to a tendency to thrombosis

According to research reports, the G20210A mutation in the 3'UTR of the prothrombin F2 gene can increase the level of plasma prothrombin, leading to a tendency to thrombosis

In addition, it has been reported in the literature that mutations in genes such as F8, F9, F11, and F12 lead to abnormal increases in coagulation factors VIII, IX, XI, and XII, disrupting the normal balance of hemostasis, and easily causing thrombosis

[0006] 4. Fibrinolytic Deficiency

Plasminogen is activated into plasmin under the action of tissue-type plasminogen activator, and the defects of the two lead to a decrease in the level of fibrinolysis in the body, resulting in a tendency to thrombosis

[0007] 5. Histidine-rich glycoprotein (HRG) deficiency

The anti-fibrinolytic effect of HRG can lead to a tendency to thrombosis, but the biochemical detection of this protein cannot be carried out clinically at present, so the genetic detection of HRG is very necessary

[0008] 6. ADAMTS13 deficiency

Due to the genetic heterogeneity of thrombosis and multiple gene mutations can lead to disease, the traditional Sanger sequencing technology has been far from meeting the needs of medical research and clinical applications

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