AID Fructose Intolerance Kit – Detection of the 4 most frequent mutations in aldolase B gene

RDB 2175 Fructose Intolerance

Hereditary Fructose Intolerance is a rare genetic disorder and inherited as an autosomal recessive trait. Mutations in the gene for the enzyme fructose-1-phosphat aldolase (aldolase B) are causing an inactive form of the enzyme. Patients with inactive aldolase B enzyme show strong accumulation of fructose-1-phosphate and fructose-1,6-bisphosphat in liver, kidney and intestine resulting in intoxication.

Until now there are described about 35 mutations which are inactivating. About 95% of aldolase B deficiency are caused by the four mutations A149P, A174D, N334K and Δ4E4.

AID Fructose Intolerance Kit enables detection of the four most frequent mutations in aldolase B gene.

 

   

Characteristics

• Sensitive detection of the four most frequent mutations in HFI gene aldolase B
• Differentiation between homozygous and heterozygous genotype
• PCR with subsequent lineprobe assay
• Specimen: human DNA isolated from buccal swab, Citrate- or EDTA-blood or biopsy
• Control bands on every strip show correct DNA isolation, amplification and hybridization
• Results within 4 hours
• Suited for automated systems
• Evaluation and documentation with AID Scanning system
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