[./productpagepag.html]
[./indexpag.html]
[./support_pagepag.html]
[./contactpagepag.html]
Copyright © 2005 - MRC-Holland
[./indexpag.html]
Home
-
[./productpagepag.html]
Products
-
[./support_pagepag.html]
Support
-
[./article_pagepag.html]
Articles
-
[./contactpagepag.html]
contact
SALSA MLPA KIT P103 DPYD
[http://www.geneclinics.org/profiles/hht/details.html]
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 1p22 and comprises 23 exons that span 842 kb of genomic DNA. DPYD defects due to gene rearrangements could be a frequent cause of DPYD deficiency. SALSA MLPA probes are present for all 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 MLPA kit can not be used for the detection of DPYD promoter methylation which also might be a frequent cause of 5-fluorouracil toxicity. This MLPA kit is designed to detect deletions/duplications of one or more exons of the DPYD gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 03; 25-06-2007 Last change in probe mix content: Lot 0507 (May 2007) Current Lot Number.: Lot 0507
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
[./order_infopag.html]
[./products_prenatal_and_postnatalpag.html]
[./products_hereditary_cancer_researchpag.html]
[./products_various_syndromespag.html]
[./products_tumor_characterisationpag.html]
[./products_mrna_analysispag.html]
[./products_methylation_specificpag.html]
[./products_otherpag.html]
[./products_pharmacogeneticspag.html]
[./mlpapricelistpag.html]
[Web Creator] [LMSOFT]