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Analysis of ACTN2 Gene (Mutation) in Dilated cardiomyopathy 1AA by RT-qPCR (CAT#: STEM-MT-0197-LGZ)

Introduction

Also known as: MPD6; CMH23; CMYP8; CMD1AA; MYOCOZ
α-actin belongs to the phantom gene superfamily, which represents a diverse group of cytoskeletal proteins including α and β phantom and dystrophin. Actin is an actin-binding protein with multiple roles in different cell types. In non-muscle cells, the cytoskeletal isoform is found along actin bundles and at adherens-type junctions, where it is involved in binding actin to membranes. In contrast, skeletal, cardiac and smooth muscle isoforms localize to Z-disks and similar compact bodies, where they help anchor myofibrillar actin filaments. This gene encodes a muscle-specific isoform of α-actin that is expressed in both skeletal and cardiac muscle. Several transcript variants of this gene have been found encoding different 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

Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy

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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