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P255 ALDOB-FBP1

SALSA MLPA Probemix P255 ALDOB-FBP1 detects copy number variations in the ALDOB and FBP1 genes.

Specifications

Contents: 32 MLPA probes, including 9 probes for ALDOB (covering all exons), 8 probes for FBP1 (covering all exons), and probes for ALDOB c.448G>C (A149P) and c.524C>A (A174D).

Tissue: human genomic DNA.

Application: research on hereditary fructose intolerance (HFI), and hereditary fructose-1,6-diphosphate deficiency.

For research use only (RUO). Not for use in diagnostics.

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General information

The SALSA MLPA Probemix P255-B1 ALDOB-FBP1 is a research use only (RUO) assay for the detection of deletions or duplications in the ALDOB and FBP1, which are associated with Hereditary fructose intolerance.

Hereditary fructose intolerance (HFI) is a rare recessive inherited disorder of carbohydrate metabolism, caused by catalytic deficiency of the aldolase B enzyme (ALDOB). The ALDOB enzyme plays a key role in glycolysis and gluconeogenesis and, in mammals, is preferentially expressed in the liver. HFI patients manifest hypoglycemia, lactic acidosis, and gastrointestinal symptoms, such as severe abdominal pain and recurrent vomiting after consuming fructose-containing foods. HFI usually presents in infancy at the time of weaning, when fructose is added to the diet. Persistent ingestion of fructose and related sugars (such as sucrose and sorbitol) can lead to severe liver and kidney damage, seizures, coma, and risk of death.

Mutations in the aldolase B gene (ALDOB) cause hereditary fructose intolerance (HFI). The protein expressed by this gene catalyses the cleavage of fructose-1-phosphate to form dihydroxyacetone phosphate and D-glyceraldehyde.

Hereditary fructose-1,6-diphosphatase deficiency is another form of fructose intolerance and exhibits similar signs and symptoms to HFI. This condition is inherited in an autosomal recessive way and caused by a deficiency in fructose-1,6-bisphosphatase 1 (FBP1), an enzyme which catalyses the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate.

The ALDOB gene (9 exons), spans ~15.2 kb of genomic DNA and is located on chromosome 9q31.1, 101.4 Mb from p-telomere. The FBP1 gene (8 exons), spans ~37.1 kb of genomic DNA and is located on chromosome 9q22.32, 96.4 Mb from p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK333439/.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK550349/.

Regulatory status

SALSA MLPA Probemix P255 ALDOB-FBP1 is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD030 is an artificial DNA sample with a signal for all probes in the P255 ALDOB-FBP1 probemix. Inclusion of a reaction with SD030 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD030 is included with every order of the P255 ALDOB-FBP1 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P255-025R
SALSA MLPA Probemix P255 ALDOB-FBP1 – 25 rxn
MLPA
€ 296.00
P255-050R
SALSA MLPA Probemix P255 ALDOB-FBP1 – 50 rxn
MLPA
€ 580.00
P255-100R
SALSA MLPA Probemix P255 ALDOB-FBP1 – 100 rxn
MLPA
€ 1135.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD030
SALSA Binning DNA SD030 – 6 rxn
MLPA
€ 25.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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