Screening of COL1A1 and COL1A2 Point Mutations by RT-qPCR (CAT#: STEM-MT-0029-LGZ)

Introduction

Osteogenesis imperfecta is a connective tissue disease characterized by autosomal dominant inheritance. More than 1,100 causal mutations have been identified on all exons of the genes encoding COL1A1 and COL1A2, the precursors of type I collagen.

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Principle Applications Procedure Materials

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

Osteogenesis imperfecta (OI)

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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