gb GENETIC FRUCTO
The kit is intended for detection of mutation A149P, A174D, N334K and deletion del4E4 in the ALDOB gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency of the enzyme aldolase B, which is essential for the metabolism of fructose. One person in 10,000 to 100,000 suffers from HFI. The most common mutations of the gene for aldolase B are A149P, A174D, N334K and deletion of del4E4.
Hereditary fructose intolerance is characterized by clinical symptoms such as vomiting, nausea, diarrhea, growth restriction and metabolic disorders (hypoglykemia, hyperuricemia, hypomagnesemia, or lactic acidosis). HFI may also lead to liver and kidney failure. HFI first appears in infants who are not breastfed, but eat a diet containing sucrose and fructose.
Parameters of the diagnostic kit
- ready-to-use assay
- sample concentration 1-100 ng/µl
- positive and negative controls included
- FAM and HEX channels detection
- identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
ABI 7500/7500 Fast (ABI)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)