Analysis of GABRD Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1334-LGZ)

Name: Analysis of GABRD Gene (Mutation) by RT-qPCR
SKU: STEM-MT-1334-LGZ
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Introduction

Official Full Name: gamma-aminobutyric acid type A receptor subunit delta
Also known as: EJM7; EIG10; GEFSP5
Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the mammalian brain, acts on GABA-a receptors, which are ligand-gated chloride channels. The chloride conductivity of these channels can be modulated by benzodiazepines that bind GABA-A receptors. GABA-A receptors are generally pentameric, with five subunits: α, β, α, α, and α. This gene encodes the delta subunit. Mutations in this gene are associated with susceptibility to generalized epilepsy with febrile seizures (type 5). Alternative splicing transcript variants of this gene have been described, but their biological validity has not been established.

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Principle Applications Procedure Materials

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.