SALSA MLPA P255 ALDOB probemix - 50 reactions

application: Fructose intolerance
region: ALDOB 9q21 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P255-050R

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Detailní popis SALSA MLPA P255 ALDOB probemix - 50 reactions

P255-025R SALSA MLPA P255 ALDOB probemix – 50 rxn

Fructose intolerance is often recognized by severely ill infants with recurrent hypoglycemia and vomiting at the time of adding fructose or sucrose to the diet, resulting in marked malnutrition. However, fructose intolerances have also been found in a 3-year-old brother of a severely affected infant, who was clinically healthy but had a marked aversion to sweets and fruit. The disease was diagnosed by an oral test dose of fructose, which precipitated in hepatomegaly and a hypoglycemic shock (Perheentupa, J. & Pitkanen, E. (1962) Symptomless hereditary fructose intolerance. Lancet 279: 1358-1359).

Fructose intolerance can be caused by a defect in aldolase B (ALDOB) gene, which catalyzes the cleavage of fructose-1-phosphate to form dihydroxyacetone phosphate and D-glyceraldehyde. By analogy to galactosemia, the term fructosemia was suggested.

The ALDOB gene (9 exons), spans ~15.2 kb of genomic DNA and is located on chromosome 9q21, 104.2 Mb from p-telomere. The P255 ALDOB probemix contains probes for each exon of the gene, including two mutation-specific probes (A149P; A174D). Please note that the A149P mutation-specific probe may show a small peak also when the mutation is not present. The A174D mutation-specific probe will only generate a signal when the mutation is present. In addition, 10 reference probes are included in this probemix, detecting different autosomal chromosomal locations.

SD030 Sample DNA
Please note that the mutation-specific probes have only been tested on control plasmids and not on positive human DNA samples with the point mutation! This SD030 sample DNA is provided with each probemix vial and can be used in data binning in the fragment analysis and as a positive control for the mutation-specific probes (see next page).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene and to detect the presence of the mentioned mutations in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test. 

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