Analysis of PKLR Gene (Mutation) in Pyruvate Kinase Deficiency of Red Cells by RT-qPCR (CAT#: STEM-MT-0145-LGZ)

Introduction

Also known as: PK1; PKL; RPK; PKRL
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phosphoenolpyruvate to pyruvate and ATP, the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are a common cause of chronic hereditary nonspherical hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene.

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Principle Applications Procedure Materials Notes Related Products

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

Pyruvate kinase deficiency of red cells

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

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