SALSA MLPA P205 XLP probemix - 100 reactions

SALSA MLPA P205 XLP probemix - 100 reactions

application: Lymphoproliferative syndrome
region: SH2D1A and XIAP (Xq25); ITK (5q33) Detailní informace

Cena s DPH € 1 176.12
Cena bez DPH € 972.00
 100 react
Dostupnost Skladem
Kód produktu P205-100R

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

Detailní popis SALSA MLPA P205 XLP probemix - 100 reactions

P205-025R SALSA MLPA P205 SH2D1A-XIAP-ITK probemix – 100 rxn

X-linked lymphoproliferative syndrome (XLP or Duncan disease) is a primary immunodeficiency characterised by severe immune dysregulation, often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype with symptoms such as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis. Mutations in the SH2D1A (XLP1) and XIAP (XLP2) genes on chromosome X are the cause of this disorder. More recently, defects in the IL-2 inducible T cell kinase (ITK) gene on chromosome 5 are identified as a cause for an autosomal EBV-associated lymphoproliferative syndrome. It shows a similar, but not identical phenotype to XLP.

The SH2D1A gene (~27 kb of genomic DNA; 4 exons) and XIAP gene (~54 kb of genomic DNA; 8 exons) are located on chromosome Xq25, about 123 Mb from the p-telomere. The ITK gene (17 exons) spans ~74 kb of genomic DNA and is located on chromosome 5q33.3, about 157 Mb from the p-telomere.
This P205-B1 probemix contains two probes for each of the four SH2D1A exons. In addition, it contains probes for all exons of the XIAP gene with the exception of exon 1 (which is non-coding in the RefSeq sequence), and probes for all but the last exon of the ITK gene. Finally, it contains 9 reference probes detecting several autosomal 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 autosomal recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognizable by a 35-50% reduction in relative peak area. 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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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