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Analysis of ACTA1 Gene (Mutation) in Actin Accumulation Myopathy by RT-qPCR (CAT#: STEM-MT-0186-LGZ)

Introduction

Also known as: ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM; CMYP2A; CMYP2B; CMYP2C
The product encoded by this gene belongs to the actin family, a group of highly conserved proteins that play a role in the movement, structure and integrity of cells. α, β, and γ-actin isoforms have been identified, α-actin is a major component of contractile organs, and β- and γ-actin are involved in the regulation of cell motility. This actin is alpha-actin found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including linear myopathy, congenital myopathy with thin filaments, congenital myopathy with core, and congenital myopathy with fiber-type dysregulation, which cause defects in muscle fibers, manifested as hypotonia.




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

Actin accumulation myopathy

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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