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Analysis of ENG Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1948-LGZ)

Introduction

Official Full Name: endoglin<br />Also known as: END; HHT1; ORW1<br />This gene encodes a homodimeric transmembrane protein, the major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex, which binds the beta 1 and beta 3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Lundu-Weber syndrome, an autosomal dominant multisystem vascular dysplasia. The gene may also be linked to preeclampsia and several types of cancer. Alternative splice transcript variants of this gene have been found to encode distinct isoforms.




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

Gene mutation analysis.

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