SALSA MLPA P278 PCCA probemix - 100 reactions

SALSA MLPA P278 PCCA probemix - 100 reactions

application: Propionic acidemia
region: PCCA 13q32 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P278-100R

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

Detailní popis SALSA MLPA P278 PCCA probemix - 100 reactions

P278-025R SALSA MLPA P278 PCCA probemix – 100 rxn

Propionyl-CoA carboxylase (PCC) is comprised of several alpha and beta subunits. The alpha subunits are encoded by the PCCA gene and the beta subunits by the PCCB gene. PCC catalyses the breakdown of certain amino acids as well as lipids and cholesterol. The breakdown product is propionyl-CoA, which is further converted into other molecules used for energy.

Build-up of propionyl-CoA in the body can be toxic and is associated with propionic acidemia. This occurs when there is no or less active PCC available due to mutations in the PCCA or the PCCB gene. Cells from patients with propionic acidemia with mutations in the PCCA gene fall into complementation group pccA.
The features of propionic acidemia are episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. Outstanding chemical features are hyperglycinemia and hyperglycinuria.

The PCCA gene (24 exons) spans ~441.4 kb of genomic DNA and is located on chromosome 13q32.3, 99.5 Mb from p-telomere. The P278-C1 probemix contains probes for each of the 24 exons of PCCA (two probes for exons 1, 4, 7). In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix 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 this gene is caused by deletions/duplications of complete exons. Finally, note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test. 

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