SALSA MLPA P237 DNAI1 probemix - 100 reactions

SALSA MLPA P237 DNAI1 probemix - 100 reactions

application: Primary ciliary dyskinesia (PCD)
region: DNAI1 9p21 Detailní informace

Cena s DPH € 1 176.12
Cena bez DPH € 972.00
 100 react
Dostupnost Skladem
Kód produktu P237-100R

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

Detailní popis SALSA MLPA P237 DNAI1 probemix - 100 reactions

P237-025R SALSA MLPA P237 DNAI1 probemix – 100 rxn

Primary ciliary dyskinesia (PCD) phenotype is estimated to affect 1 in 10,000 to 20,000 individuals. PCD is characterised by dysfunction of motile cilia and flagella. Recurrent respiratory infections are caused by defective mucociliary clearance due to immotile or dysmotile respiratory cilia. Mutations in the DNAH5 and DNAI1 genes, on chromosomes 5p and 9p, respectively, are found in 38% of PCD patients (Hornef et al., 2006, Am J Respir Crit Care Med.; Zariwala et al., 2007, Annu Rev Physiol.).

The DNAI1 gene (20 exons) spans ~62.2 kb of genomic DNA and is located on 9p13.3, ~34 Mb from the p-telomere. The P237-B1 probemix contains one probe for each exon of the gene.

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(s) 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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