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Analysis of NLRP3 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0484-LGZ)

Introduction

Official Full Name: NLR family pyrin domain containing 3<br />Also known as: AII; AVP; FCU; MWS; FCAS; KEFH; CIAS1; FCAS1; NALP3; C1orf7; CLR1.1; DFNA34; PYPAF1; AGTAVPRL<br />The gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain and is a member of the NLRP3 inflammasome complex. This complex acts as an upstream activator of NF-kappaB signaling and plays a role in the regulation of inflammation, immune response and apoptosis. The SARS-CoV 3a protein is a transmembrane pore-forming viral protein that has been shown to activate the NLRP3 inflammasome through the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), ker atoendotheliitis fugax heredarian, and deafness , autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available able to determine if all of the represented 5 ' UTR splice patterns are biologically valid.




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

Gene mutation analysis.

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