SALSA MLPA P238 DNAH5 probemix - 100 reactions

SALSA MLPA P238 DNAH5 probemix - 100 reactions

application: Primary ciliary dyskinesia (PCD)
region: DNAH5 5p15 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P238-100R

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

Detailní popis SALSA MLPA P238 DNAH5 probemix - 100 reactions

P238-025R SALSA MLPA P238 DNAH5 probemix – 100 rxn

description
Primary ciliary dyskinesia (PCD) phenotype is estimated to affect 1 in 10.000 to 20.000 individuals. PCD is characterized by dysfunction of motile cilia and flagella. Recurrent respiratory infections are caused by defective mucociliary clearence due to immotile or dysmotile resporatory cilia. Mutations in the DNAH5 and DNAI1 genes, on chromosomes 5p and 9p respectively are found in 38% of PCD patients (Hornef et al., Am J Respir Crit Care Med 2006; Zariwala et al., Annu Rev Physiol 2007).

The DNAH5 gene (79 exons) spans ~ 253 kb of genomic DNA and is located on 5p15. This P238-A3 probemix contains probes for 23 of the 79 exons. In addition, 19 reference probes are included in this probemix detecting 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 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® probemix.  

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