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Analysis of SLC5A7 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1449-LGZ)

Introduction

Official Full Name: solute carrier family 5 member 7
Also known as: CHT; CHT1; CMS20; HMN7A; DHMNVP
This gene encodes a sodium- and chloride-dependent high-affinity transporter that mediates choline uptake and synthesis of acetylcholine in cholinergic neurons. This protein transports choline from the extracellular space to the presynaptic terminal where acetylcholine is synthesized. The increased choline uptake results from an increased density of this protein in the synaptosomal plasma membrane in response to depolarization of the cholinergic terminals. Dysfunction of cholinergic signaling has been linked to a variety of disorders, including depression, attention deficit disorder, and schizophrenia. Allelic variants in this gene are associated with autosomal dominant distal motor neuropathy type VIIA. Alternative splicing results in multiple transcript variants.




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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