Analysis of NEFL Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1873-LGZ)

Introduction

Official Full Name: neurofilament light chain<br />Also known as: NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110<br />Neurofilaments are heteropolymers of type IV intermediate filaments composed of light, medium, and heavy chains. Neurofilaments constitute the axis bone and functionally maintain the diameter of the neuron. They may also play a role in intracellular trafficking to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), peripheral nervous system disorders characterized by distinct neuropathies. A pseudogene was found on the Y chromosome.

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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

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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