Analysis of the Q318X Mutation in the CYP21A2 Gene by RT-qPCR (CAT#: STEM-MT-0028-LGZ)

Introduction

The exon 8 mutation (p.Q318X) is known to be associated with a phenotype of salt-wasting CAH but is frequently associated with duplication in the CYP21A2 gene. The duplication results in an allele that carries an intact CYP21A2 gene and a mutated one (the disruptive effects of the p.Q318X mutation are hence muted).

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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

21-Hydroxylase Deficiency

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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