Analysis of GALT Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2043-LGZ)

Introduction

Official Full Name: galactose-1-phosphate uridylyltransferase
Galactose-1-phosphate uridine transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, which is the conversion of udp-glucose + galactose-1-phosphate to glucose-1-phosphate + udp-galactose. Deficiency of this enzyme results in typical galactosemia in humans, which can be fatal in the neonatal period if lactose is not removed from the diet. The pathophysiology of galactosemia is not well defined. Two transcript variants of this gene have been found to encode different isoforms.

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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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