Analysis of MPZ Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0156-LGZ)

Introduction

Also known as: P0; CHM; DSS; MPP; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB
This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is the major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a small essential intracellular domain, which are essential for the formation and stabilization of the multilayered structure of dense myelin. Mutations in this gene are associated with autosomal dominant type 1 charco-marie-tooth disease (CMT1B) and other polyneuropathy such as Dejerine-Sottas syndrome (DSS) and congenital myelinating neuropathy (CHN). A recent study showed that two isoforms can be generated from the same mRNA by the stop codon reading mechanism using an in-frame translation stop codon.

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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

Charcot-Marie-Tooth disease dominant intermediate D, Neuropathy, congenital hypomyelinating, 2, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B

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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