SALSA MLPA P333 EP300 probemix - 50 reactions

application: Rubinstein–Taybi syndrome (RSTS)
region: EP300 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P333-050R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P333 EP300 probemix - 50 reactions

P333-025R SALSA MLPA P333 EP300 probemix – 50 rxn

description
The Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a well-defined multiple congenital anomaly - mental retardation syndrome characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation.

RSTS is a genetically heterogeneous disease affecting the chromatin protein structure. RSTS has been correlated with the mutations in the E1A-binding protein (EP300) and the transcription factor binding protein (CREBBP). These proteins have a role in the transcription regulation via chromatin remodelling and are important in the processes of cell proliferation and differentiation. Loss of function of the EP300 or CREBBP gene has been found in about 50% of patients with RSTS.

The EP300 gene (31 exons) spans ~87.5 kb of genomic DNA and is located at on chromosome 22q13, ~39.9 Mb from the p-telomere. The P333-A1 probemix contains probes for each of the 31 exons of the gene and one probe for the CREBBP gene. In addition, 11 reference probes are included in this probemix, detecting several different autosomal chromosomal locations. The database of genome variants mentions no copy number changes of this genomic region in healthy individuals (see http://projects.tcag.ca/variation/).

This SALSA® MLPA® kit is designed to detect deletions/duplications of one or more sequences in the aforementioned 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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