Analysis of EPB41 Gene (Mutation) in Elliptocytosis 1 by RT-qPCR (CAT#: STEM-MT-0094-LGZ)

Introduction

Also known as: HE; EL1; 4.1R
The protein encoded by this gene constitutes the cytoskeleton network of red blood cells together with spectin and actin. This complex plays a key role in red blood cell shape and deformability. Mutations in this gene are associated with elliptocytosis type 1 (EL1). Alternative splice transcript variants encoding different isoforms have been described 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

Elliptocytosis 1

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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