SALSA MLPA P385 DOCK8 probemix - 50 reactions

application: HIES

region: 9p24.3 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P385-050R

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

Detailní popis SALSA MLPA P385 DOCK8 probemix - 50 reactions

P385-025R SALSA MLPA P385 DOCK8 probemix – 50 rxn

description
Hyper-IgE recurrent infection syndrome (HIES) is a rare primary immunodeficiency characterised by the clinical triad of recurrent staphylococcal skin abscesses, recurrent pneumonia and serum IgE levels > 10 times the upper norm. Defects in the DOCK8 gene are the main cause of the autosomal recessive form whereas STAT3 defects cause the autosomal dominant form of HIES (Engelhardt et al., 2009).

The DOCK8 gene (48 exons) spans ~250 kb of genomic DNA and is located on 9p24.3, 0.2 Mb from the p-telomere. The P385 and P386 probemixes contain one probe for each exon of the gene, three probes for exon 1 and two probes for exon 2. In addition a flanking probe, targeting the DMRT1 gene, located 377 kb downstream of DOCK8 is included in both probemixes. The database of genomic variants mentions that several copy number changes in this genomic region have been found in healthy individuals (see http://projects.tcag.ca/variation). Several exon 1 deletions of DOCK8 are known and mentioned in the database of genomic variants. Since two of the three known transcript variants of DOCK8 (NM_001190458; NM_001193536) start with exon 3 and have their startcodon located in exon 4, deletions of exon 1 and 2 might not be clinically relevant.

The STAT3 gene (24 exons) spans ~75 kb of genomic DNA and is located on 17q21.2, 40 Mb from the p-telomere. The P386 probemix contains one probe for each exon of the gene. The database of genomic variants mentions several copy number changes in this genomic region have been found in healthy individuals (see http://projects.tcag.ca/variation). As the startcodon of the NM-transcript variant is located in exon 2, the clinical relevance of exon 1 deletions are not known.

The P385-A1 probemix contains 38 probes specific for DOCK8, one DMRT1 probe and 9 reference probes detecting different autosomal chromosomal locations. The P386-A1 probemix contains 13 DOCK8 probes, one DMRT1 probe, 24 STAT3 probes and 8 reference probes detecting different autosomal chromosomal locations.

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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