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Analysis of PRF1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2076-LGZ)

Introduction

Official Full Name: perforin 1<br />Also known as: P1; PFP; HPLH2<br />This gene encodes a protein whose structure is similar to complement component C9 and is important for immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs at the plasma membrane of the target cell or at the endosomal membrane within the target cell is debated. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), plastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2 ), a rare and lethal autosomal recessive disorder of early childhood.




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