SALSA MLPA P103 DPYD probemix - 50 reactions

application: Dihydropyrimidine dehydrogenase (DPYD) deficiency
region: DPYD 1p22
  Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P103-050R

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Detailní popis SALSA MLPA P103 DPYD probemix - 50 reactions

P103-050R SALSA MLPA P103 DPYD probemix – 50 rxn

Dihydropyrimidine dehydrogenase (DPYD) is the initial and rate-limiting enzyme in the 3-step pathway of uracil and thymidine catabolism and in the pathway leading to the formation of beta-alanine. DPYD is the major enzyme involved in breakdown of 5-fluorouracil which is one of the most widely used drugs for cancer chemotherapy.

DPYD deficiency is a clinically heterogeneous disorder. Patients with a  nearly complete enzyme defect often show convulsive disorders, motor retardation and mental retardation. The frequency of a homozygous defect in DPYD gene is estimated to be 1:10.000 in most populations. Individuals with enzymatic activities in the heterozygous range can experience acute 5-fluorouracil toxicity when they receive 5-fluorouracil treatment. The number of individuals that have only one intact copy of the DPYD gene might be as high as 3%. It is estimated that 0.5% of colorectal cancer patients that receive 5-fluorouracil treatment die from adverse drug reactions.

The DPYD gene is one of the longest human genes. It is located on chromosome 1p21.3 and comprises 23 exons that span 843 kb of genomic DNA, about 98 Mb from the p-telomere. DPYD defects due to gene rearrangements could be a frequent cause of DPYD deficiency. This P103-B2 probemix contains MLPA probes for each of the 23 exons. In view of the large size of the introns, two probes are present for 12 of the exons. Three probes are present for exon 1. Also present is a probe specific for the IVS14+1G>A mutation which leads to the skipping of exon 14 in the process of DPYD pre-mRNA splicing. This SALSA MLPA probemix cannot be used for the detection of DPYD promoter methylation which also might be a frequent cause of 5-fluorouracil toxicity.

SD030 Sample DNA
Please note that the mutation-specific probe has only been tested on control plasmids and not on positive human DNA samples with the IVS14+1G>A 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 probe (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 aforementioned mentioned (point) mutation 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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