Analysis of SLC2A1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0098-LGZ)

Introduction

Also known as: CSE; PED; DYT9; GLUT; DYT17; DYT18; EIG12; GLUT1; HTLVR; GLUT-1; SDCHCN; GLUT1DS
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia.

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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

Dystonia 9, Hereditary cryohydrocytosis with reduced stomatin, Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2, Epilepsy, idiopathic generalized, susceptibility to, 12, Inborn genetic diseases, GLUT1 deficiency syndrome 1, autosomal recessive

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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