SALSA MLPA P327 iAMP21 probemix - 50 reactions

ALL, iAMP21.

region: iAMP21, RUNX1, ERG Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P327-050R

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Detailní popis SALSA MLPA P327 iAMP21 probemix - 50 reactions

P327-025R SALSA MLPA P327 iAMP21-ERG probemix – 50 rxn

Acute lymphoblastic leukemia (ALL) is a heterogenous disease at cytogenetic level. This can be utilized in defining clinically significant genetic subgroups to aid prediction of relapse and in selection of suitable treatment in ALL. Intra-chromosomal amplification of chromosome 21 (iAMP21) is a recurrent chromosomal abnormality detected in ~2 % of childhood B-lineage ALL patients. This frequency is even higher in older children and adolescents with B-cell precursor ALL. Although level and extent of the amplified region on chromosome 21 seems to vary between ALL patients, the common region of amplification contains the RUNX1 (AML1) gene, at 21q22.12, without exception. Clinical studies have shown that ALL patients with iAMP21 have an increased risk of relapse and have significantly inferior survival compared to patients without this genetic change (Robinson H.M. et al (2003) Leukemia 17:2249-50 and Moorman A.V. et al (2007) Lancet Oncol. 11:429-38). Thereby ALL patients with iAMP21 are suggested to be treated in more intense regimen. Similar chromosome 21 amplifications have also been reported in patients with myelodysplastic syndromes and acute myeloid leukaemia (AML).

Recently, short intragenic deletions of ERG were described in B-cell precursor (BCP) ALL patients (Clappier E. et al. 2013). The ERG gene locates at 21q22.2 and has 12 exons. BCP-ALL patients with intragenic ERG deletion are suggested to have a good outcome and, moreover, ERG deletion is suggested to define a subgroup of superior outcome among patients with IKZF1 ∆4-7 deletions (Clappier E. et al. 2013).

This P327-B1 iAMP21-ERG probemix contains 46 different probes detecting specific sequences on chromosome 21. In addition, 13 reference probes are present, locating in chromosomal regions that are relatively quiet in ALL. This probemix contains 13 probes for ERG gene, covering each exon of this gene and six probes specific for RUNX1 gene. Several other target probes are located in the regions flanking RUNX1 and ERG gene that can also be duplicated or amplified in iAMP21 cases.

This SALSA® MLPA® probemix is designed to detect amplifications of one or more sequences on chromosome 21 in a DNA sample. Heterozygous deletions of 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. Deletions, duplications and amplifications detected by MLPA should always be confirmed by other methods. Not all deletions, duplications and amplifications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings.

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