Analysis of MFSD2A Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0097-LGZ)

Introduction

Also known as: NLS1; MFSD2; MCPH15; SLC59A1; HsMFSD2A; NEDMISBA
The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome.

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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

Febrile seizure (within the age range of 3 months to 6 years), Cryptorchidism, Functional abnormality of male internal genitalia, Hyperammonemia, Intellectual disability, Delayed gross motor development, Fetal growth restriction, Microcephaly

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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