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Analysis of GAD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1494-LGZ)

Introduction

Official Full Name: glutamate decarboxylase 1<br />Also known as: GAD; SCP; CPSQ1; DEE89<br />This gene encodes one of several forms of glutamate decarboxylase, which is considered the major autoantigen in insulin-dependent diabetes. The encoded enzyme is responsible for catalyzing the production of L-glutamate - GABA. The pathogenic role of this enzyme in the human pancreas has been established as it has been identified as an autoantigen and autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in male stiffness syndrome. A deficiency of this enzyme can lead to dependence on pyridoxine during seizures. Alternative splicing of this gene produces two products, a major 67-kD form and a less common 25-kD form.




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

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Hereditary spastic paraplegia

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