MutaGEL® Aldolase B PCR Assay Kit

MutaGEL Aldolase B PCR Assay manufactured in Germany by Immundiagnostik

Size: 24 Samples
Method: PCR (allel specific)
Sample Type: DNA (e.g.whole blood, cheek swab)
Sample Size: 200 µL
For Research Use Only
Controls Included

Storage and Stability:
Store at ≤ -18°C. The kit MutaGEL Aldolase B PCR Assay reagents are stable in the unopened micro tubes until the expiration date indicated (see print on the package). Do not thaw out the content of the “positive control DNA” for more than two times. If necessary, make suitable aliquots. Before use: Spin tubes briefly before opening (contents may become dispersed during shipment).

Assay Background

The liver isoenzyme Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms.
The autosomal recessive disorder HFI is a potentially lethal inborn error in metabolism and the disease poses diagnostic problems because of in part very unspecific clinical manifestations. The present aldolase B PCR test is useful for the detection of the three most common mutations critical for gluconeogenesis and fructose metabolism: A149P (60%), A174D (11%) and N334K (8%). These mutations may account together for more than 80% of all known mutations causing HFI and their screening will be helpful for suited therapy of afflicted patients.
The G>C mutation at bp position 448 results in an amino acid exchange (from alanine to praline) at position 150 (earlier 149). Frequency of that mutation is 1:250 in Caucasians and disease by homozygous presence of C-allele is about 1:50000 (=0.002%).

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