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Analysis of PSEN2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0612-LGZ)

Introduction

Official Full Name: presenilin 2<br />Also known as: AD4; PS2; AD3L; STM2; CMD1V<br />Patients with hereditary Alzheimer's disease (AD) carry mutations in presenilin (PSEN1 or PSEN2) or amyloid precursor protein (APP). These disease-associated mutations lead to increased production of longer forms of amyloid-beta, the main component of the amyloid deposits found in Alzheimer's disease brains. Presenilin is thought to regulate APP processing through its action on γ-secretase, an enzyme that cleaves APP. In addition, presenilins are thought to be involved in the cleavage of Notch receptors, so they either directly regulate the activity of γ-secretase or are proteases themselves. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 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

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