Analysis of CLDN19 Gene Mutations by RT-qPCR (CAT#: STEM-MT-0046-LGZ)

Introduction

Amelogenesis imperfecta (AI) is a group of genetic disorders characterized by defects in tooth enamel. AI was recently reported in patients with familial hypercalciuria and hypomagnesemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control paracellular channels of calcium and magnesium. FHHNC may be associated with mutations in these two genes.

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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

Amelogenesis Imperfecta (AI)

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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