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Analysis of SF3B4 Gene (Mutation) in Hereditary Hearing Loss and Deafness by RT-qPCR (CAT#: STEM-MT-0139-LGZ)

Introduction

Also known as: AFD1; Hsh49; SAP49; SF3b49
This gene encodes one of the four subunits of splicing factor 3B. The protein encoded by this gene cross-links to the pre-mRNA region upstream of the pre-mRNA branch point sequence of the A pre-spliceosome complex, which may also be involved in the assembly of the B, C, and E spliceosome complexes. In addition to RNA-binding activity, this protein also directly and highly specifically interacts with subunit 2 of splicing factor 3B. The protein contains two N-terminal RNA recognition motifs (RRMs), consistent with the observation that it directly binds to pre-mRNAs.




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

Hereditary hearing loss and deafness

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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