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Analysis of SERPINC1 Gene (Mutation) in Hereditary Antithrombin Deficiency by RT-qPCR (CAT#: STEM-MT-0166-LGZ)

Introduction

Also known as: AT3; AT3D; ATIII; THPH7; ATIII-R2; ATIII-T1; ATIII-T2<br />The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpentin superfamily. This protein inhibits thrombin and other activated serine proteases of the coagulation system and regulates the blood coagulation cascade. The protein includes two functional domains: the heparin-binding domain at the N-terminus of the mature protein and the active site domain at the C-terminus. The presence of heparin enhanced the inhibitory activity. Numerous mutations in this gene have been identified, many of which are known to cause antithrombin-III deficiency, a strong risk factor for thrombosis. Reduced levels of this protein in serum have been associated with severe cases of coronavirus disease 19 (COVID-19).




Principle

Quantitative reverse transcription PCR (RT-qPCR) is an experimental method applied to PCR experiments using RNA as the starting material. In this method, total or messenger RNA (mRNA) is first transcribed into complementary DNA (cDNA) by reverse transcriptase. Subsequently, qPCR reaction was performed using cDNA as template.

Applications

Hereditary antithrombin deficiency

Procedure

1. Sample processing and preparation of PCR reaction system.
2. Add the amplification template, cover the PCR reaction cover, mix well, centrifuge at low speed instantaneously, and transfer to the PCR instrument.
3. Set the program for PCR amplification.
4. Data analysis.

Materials

Sample: depends on the customer's analysis requirements