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SALSA MLPA Probemix P103 DPYD detects copy number variations in the DPYD gene.
Contents: 45 MLPA probes, including 35 probes for DPYD (covering all exons) of which 1 detects the wild-type sequence of the c.1679T>G mutation and 1 detects the wild-type sequence of the c.2846A>T mutation, and probes for DPYD c.1129-5923C>G and c.1905+1G>A.
Tissue: human genomic DNA.
Application: research on DPD deficiency, and the breakdown of 5-fluorouracil (5-FU).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P103 DPYD is a research use only (RUO) assay for the detection of deletions or duplications in the DPYD gene, which is associated with DPD deficiency and the breakdown of 5-fluorouracil (5-FU) which is one of the most widely used drugs for cancer chemotherapy. Furthermore, this probemix can also be used to detect the presence of the c.1129-5923C>G and the c.1905+1G>A (IVS14+1G>A) mutations and the wild type sequences of the c.1679T>G and c.2846A>T mutations.
DPD deficiency is a clinically heterogeneous disorder. The variability ranges from no symptoms to a convulsive disorder with motor retardation and intellectual disability in homozygous patients (OMIM#274270). The frequency of a homozygous defect in the DPYD gene is estimated to be 1:10.000 in most populations. Individuals with enzymatic activities in the heterozygous range can experience acute 5-FU toxicity when they receive chemotherapy with 5-FU. 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 all colorectal cancer patients that receive 5-FU treatment die from adverse drug reactions. See the table below for more information about the predicted effect of the DPYD mutations included in this mix on DPD activity.
DPYD gene variants: nomenclature and predicted consequences
DPYD variant | Alternative name(s) | Predicted consequence |
---|---|---|
c.1679T>G | DPYD*13, rs55886062 | Abolished DPD activity |
c.1905+1G>A | DPYD*2A, IVS14+1G>A, rs3918290 | Abolished DPD activity |
c.2846A>T | rs67376798 | Decreased DPD activity |
c.1129-5923C>G | rs75017182 | Decreased DPD activity |
The DPYD gene (23 exons) spans ~843 kb of genomic DNA and is located on 1p21.3, ~97 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK395610/.
SALSA MLPA Probemix P103 DPYD is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.
See this support article for commercially available positive samples that can be used with this product.