BCKDHB c.1114G>T

BCKDHB c.1114G>T

The BCKDHB c.1114G>T Novallele Genotyping Assay identifies a single nucleotide change of the BCKDHB gene. Mutations of the BCKDHB gene cause a change in amino acid of the beta subunit of the BCKD enzyme complex resulting in maple syrup urine disease (MSUD), also known as branched-chain ketoaciduria. Maple syrup urine disease is most common in eastern and central European population and is characterized by seizures, a lack of energy, and developmental delays.


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Product Description

The BCKDHB c.1114G>T Novallele Genotyping Assay is used to amplify and identify specific genetic polymorphisms or mutations. This assay provides scientists with a simple way to quickly genotype this locus from isolated human genomic DNA. The assay contains functionally-verified oligonucleotide primers necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.