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Analysis of MFN2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0079-LGZ)

Introduction

Also known as: HSG; MARF; CMT2A; CPRP1; CMT2A2; HMSN6A; CMT2A2A; CMT2A2B<br />This gene encodes a mitochondrial membrane protein that is involved in mitochondrial fusion and contributes to the maintenance and functioning of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation and may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified.




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

Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2

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