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Analysis of GJC2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0986-LGZ)

Introduction

Official Full Name: gap junction protein gamma 2
Also known as: Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR
This gene encodes a gap junction protein. Gap connexins are members of a large family of homologous connexins, including 4 transmembrane domains, 2 extracellular domains and 3 cytoplasmic domains. This gene plays a key role in central myelination and peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive disorders1.




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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