SALSA MLPA P295 SPRED1 probemix - 50 reactions

SALSA MLPA P295 SPRED1 probemix - 50 reactions

application: SPRED1
region: SPRED1 15q14 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P295-050R

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Detailní popis SALSA MLPA P295 SPRED1 probemix - 50 reactions

P295-025R SALSA MLPA P295 SPRED1 probemix – 50 rxn

SPRED1 is a member of the Sprouty/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (MAPK1). Clinical features of patients in which SPRED1 mutations have been found resemble those of neurofibromatosis type 1 and consist of multiple café-au-lait spots, axillary freckling and macrocephaly (Brems et al., 2007).

The SPRED1 gene (7 exons), spans ~104 kb of genomic DNA and is located on chromosome 15q14, 36.3 Mb from the p-telomere.

The P295-A1 SPRED1 probemix contains two probes for each of the 7 exons (or probes in close proximity of the exon) of SPRED1. Two probes in the promoter region and several probes in intronic regions of the gene have also been included. These probes were added only to facilitate the detection of breakpoints of intragenic rearrangements.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the SPRED1 gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area 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 area, 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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