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Analysis of KCNQ1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2258-LGZ)

Introduction

Official Full Name: potassium voltage-gated channel subfamily Q member 1<br />Also known as: LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1<br />This gene encodes a voltage-gated potassium channel that is required for the repolarization phase of the cardiac action potential. This protein can form heteromers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. The gene exhibits tissue-specific imprinting, with preferential expression of the maternal allele in some tissues and preferential expression of the biallelic gene in others. The gene is located in a region of chromosome 11, along with other imprinted genes associated with Beckwith-Wiedemann syndrome (BWS), which itself has been shown to be disrupted by chromosomal rearrangements in BWS patients. Alternative splicing transcript variants of this gene have been identified.




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