SALSA MLPA P212 DBA probemix - 25 reactions

SALSA MLPA P212 DBA probemix - 25 reactions

application: Diamond-Blackfan anemia (DBA)
region: RPL11, RPL5, RPL35A, RPS26, RPS17 and RPS19 Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Skladem
Kód produktu P212-025R

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

Detailní popis SALSA MLPA P212 DBA probemix - 25 reactions

P212-025R SALSA MLPA P212 DBA probemix – 25 rxn 

description
Diamond-Blackfan anemia (DBA) is a erythroid aplasia characterised by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. It usually becomes apparent during the first year of life and symptoms include fatigue, weakness, and an abnormally pale appearance. Almost half of the patients show physical malformations involving head, thumb, heart, and urogenital system.
Most cases are apparently sporadic, but in 10-25% of the cases the disease can be inherited with an autosomal dominant pattern. In the majority of these cases, DBA is caused by ribosomal protein haploinsufficiency due to mutations or deletions.

This P212-C1 DBA probemix contains probes for six ribosomal protein genes which show frequent deletions in DBA. It contains one probe for each exon of the RPL11, RPL35A, RPS17, RPS19, and RPS26 genes, and seven probes for the RPL5 gene (eight exons). In addition, nine reference probes are included in this probemix, detecting several different autosomal chromosomal locations.
Please note that the probes for RPS17 also detect its pseudogene, RPS17L!

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