Analysis of SPTA1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0153-LGZ)

Introduction

Also known as: EL2; HPP; HS3; SPH3; SPTA<br />This gene encodes a member of a family of molecular scaffolding proteins that connect the plasma membrane to the actin cytoskeleton and plays a role in determining cell shape, alignment of transmembrane proteins, and organization of organelles. The encoded protein mainly consists of 22 spectrin repeats and participates in dimer formation. It is a component of the red blood cell membrane. Mutations in this gene can cause several inherited red blood cell disorders, including ellipsoidosis type 2, pyrocytosis, and spherocytosis type 3.

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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

Hereditary spherocytosis type 3, Elliptocytosis 2, Pyropoikilocytosis, hereditary

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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