Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P322 VPS13B mix 2 probemix - 100 reactions

SALSA MLPA P322 VPS13B mix 2 probemix - 100 reactions

SALSA MLPA P322 VPS13B mix 2 probemix - 100 reactions
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Cohen syndrome.

region: VPS13B 8q22 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P322-100R

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

Detailní popis SALSA MLPA P322 VPS13B mix 2 probemix - 100 reactions

P322-025R SALSA MLPA P322 VPS13B mix 2 probemix – 100 rxn

description
Cohen syndrome is a rare autosomal recessive disorder that is overrepresented in the Finnish population. The phenotype in Finnish patients is highly homogeneous, consisting of nonprogressive mild to severe psychomotor retardation, motor clumsiness, microcephaly, characteristic facial features, childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated neutropenia and a cheerful disposition. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair, and low hairline. Defects in the vacuolar protein sorting 13 homolog B (VPS13B) gene are the main cause of Cohen syndrome.

The VPS13B gene (64 exons), spans ~864 kb of genomic DNA and is located on chromosome 8q22.2, 100 Mb from the p-telomere.

The P321 and P322 VPS13B probemixes contains probes for 60 of the 64 exons (no probes are present for exon 6, 14, 18 and 29). For exon 3, 16, 17, 25, 33, 36, 37 and 38, two probes per exon are included. In addition, a mutation-specific probe has been designed for the 2-bp (CT) deletion (C1117F). This probe will only give a signal on DNA samples containing a 2-bp (CT) deletion (C1117F, not tested on positive samples). Furthermore, 8 reference probes are included in each probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more exons of the aforementioned gene. Heterozygous deletions of probe recognition sequences should give a 35-50% reduced relative peak height 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 height, 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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