Analysis of AMPD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1161-LGZ)

Introduction

Official Full Name: adenosine monophosphate deaminase 1
Also known as: MAD; MADA; MMDD
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes, AMPD2 and AMPD3, were identified as liver- and erythroid-specific isoforms, respectively. Muscle-specific enzyme deficiencies are apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in humans. Alternative splicing transcript variants encoding different isoforms have been identified in 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

Gene mutation analysis.

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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