SALSA MLPA P103 DPYD probemix

application: Dihydropyrimidine dehydrogenase (DPYD) deficiency
region: DPYD 1p22
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version: C1
sold since: 2018-07-02

item no. description price
P103-025R SALSA MLPA P103 DPYD probemix – 25 rxn € 237
P103-050R SALSA MLPA P103 DPYD probemix – 50 rxn € 474
P103-100R SALSA MLPA P103 DPYD probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
General Information: 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 wildtype sequences of the c.1679T>G and c.2846A>T mutations. The DPYD gene is located on chromosome 1p21.3 and comprises 24 exons that span 843 kb of genomic DNA, about 98 Mb from the p-telomere.

DPD 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 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 table in the product description for more information about the predicted effect of the DPYD mutations included in this mix on 5-FU toxicity.

More information is available at www.ncbi.nlm.nih.gov/books/NBK395610.

Probemix content: The SALSA MLPA Probemix P103-C1 DPYD contains 45 MLPA probes with amplification products between 130 and 490 nt. This includes 37 probes for the DPYD gene. This includes two probes specific for the c.1129_5923C>G and c.1905+1G>A mutations which will only generate a signal when the mutations is present and two probes specific for the wildtype sequence of the c.1679T>G and c.2846A>T mutations. In addition, eight reference probes are included and detect eight different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This Probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and one chromosome Y-specific fragment (see table below). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

SALSA Binning DNA SD073: The SD073 Binning DNA provided with this Probemix can be used as Binning DNA sample for binning of two mutation-specific probes (probe 21643-L30258 for the c.1129_5923 C>G mutation and probe 06352-L05868 for the c.1905+1G>A mutation). SD073 Binning DNA is a mixture of genomic DNA from healthy individuals and synthetic DNA that contains the target sequence detected by the above mentioned probes. Inclusion of one reaction with 5 μl SD073 Binning DNA in initial MLPA experiments is essential as it can be used to aid in data binning of the peak pattern using Coffalyser.Net software. Furthermore, Binning DNA should be included in the experiment whenever changes have been applied to the set-up of the capillary electrophoresis device (e.g. when capillaries have been renewed). Binning DNA should never be used as a reference sample in the MLPA data analysis, neither should it be used in quantification of mutation signals, as for this purpose true mutation positive patient samples or cell lines should be used. It is strongly advised to use DNA sample and reference DNA samples extracted with the same method and derived from the same source of tissue. For further details, please consult the SD073-S01 Binning DNA product description provided. This product is for research use only (RUO).

Sample DNA
Sample DNA developed for this product:

product history
version C1: Four target probes have been removed, and three target probes detecting specific mutations have been added. Seven reference probes have been replaced, and two reference probes have been removed. Several probe lengths have been adjusted.
version B2: Two reference probes have been replaced and one added. In addition the control fragments have been adjusted (QDX2).
version B1: Exon 22 probe and 7 reference probes have been replaced.

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