Analysis of GBA1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0144-LGZ)

Introduction

Also known as: GBA; GCB; GLUC
The gene encodes a lysosomal membrane protein that cleaves the -glycoside chain of glycosylceramides (intermediates in glycolipid metabolism). Mutations in this gene cause Gaucher disease, a lysosomal disorder characterized by the accumulation of glycocerebrosides. A related pseudogene is located approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

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Principle Applications Procedure Materials Notes Related Products

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

Gaucher disease perinatal lethal, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type II, Lewy body dementia, Parkinson disease, late-onset, Gaucher disease type III, Gaucher disease type I

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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