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Analysis of TGFB2 Gene (Mutation) in Loeys-Dietz Syndrome 4 by RT-qPCR (CAT#: STEM-MT-0182-LGZ)

Introduction

Also known as: LDS4; G-TSF; TGF-beta2
This gene encodes a secreted ligand for the tgf-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-β receptors, leading to the recruitment and activation of SMAD family transcription factors, which regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and exists in a latent form consisting of a mature peptide homodimer, a LAP homodimer, and a latent TGF-β-binding protein, or in an active form consisting only of mature peptide homodimers. The mature peptide may also form heterodimers with other TGF-β family members. Disruption of the TGF-β/SMAD pathway is associated with a variety of human cancers. Chromosomal translocations that include this gene have been associated with Peters anomaly, a congenital defect of the anterior chamber. Mutations in this gene may be associated with Lois-Dietz syndrome. This gene encodes multiple isoforms that likely undergo similar proteolytic processes.




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

Loeys-Dietz syndrome 4

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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