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Human Genetics

METABOLISM

RDB2175 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

 

Reader Systems

AID Scanner