Úvod Reagencie Methylation analysis (MS-MLPA) SALSA MLPA ME024 9p21 probemix - 25 reactions

SALSA MLPA ME024 9p21 probemix - 25 reactions

SALSA MLPA ME024 9p21 probemix - 25 reactions

application: Tumours, Cutaneous melanoma
region: 9p21, CDKN2A, CDKNA2B Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Na dotaz
Kód produktu ME024-025R

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

Detailní popis SALSA MLPA ME024 9p21 probemix - 25 reactions

ME024-025R SALSA MLPA ME024 9p21 CDKN2A/2B region probemix – 25 rxn

This SALSA® MS-MLPA® probemix provides an easy to perform method for the detection of copy number and methylation changes of genes located in the CDKN2A-CDKN2B (p14ARF-p16INK4A-p15INK4B) region at 9p21.3. In a significant percentage of tumours one or both copies of the CDKN2A (p14-p16) gene are inactivated, which can be caused by chromosomal deletions. In addition, inactivation by methylation of the p14, p15 and p16 promoters has also been described in various tumour types.

This probemix also includes probes for the MTAP gene, which is located at only 110 kb distance from the CDKN2A gene. The MTAP gene encodes methylthioadenosine phosphorylase, an important enzyme for the salvage of both adenine and methionine. It is known that many tumour cells require addition of methionine to their growth medium, because their MTAP gene is co-deleted with CDKN2A. Cells lacking MTAP are expected to be sensitive to purine synthesis inhibitors and/or methionine starvation. Homozygous co-deletion of the CDKN2A and MTAP might therefore open possibilities for alternative treatment. In addition, this probemix includes probes for the MIR31, CDKN2B-AS1 and PAX5 genes. Loss of MIR31 has been shown to have pro-tumorigenic effects on e.g. breast and ovarian cancer. CDKN2B-AS1 (non-protein coding CDKN2B antisense RNA 1) might act as an epigenetic silencer of CDKN2B gene (Yu W. et al. 2008, Nature). The PAX5 gene, at 9p13, which is essential in normal B-cell lymphopoiesis, is frequently deleted together with CDKN2A in B-ALL.

Germline mutations in the CDKN2A gene have been linked to development of malignant cutaneous melanoma in some families with hereditary melanoma. Up to 40% of familial melanoma predispositions is associated with CDKN2A mutations (Hum Mol Genet., 2002, 11:1273-1279). In addition to point mutations, deletions of various sizes in this gene have been identified in hereditary melanoma.

This ME024-B1 probemix contains 21 probes for the CDKN2A-CDKN2B genes. In addition, it contains two probes for the MTAP gene, two probes for each of the following genes: CDKN2B-AS1, PAX5 and MIR31, and 4 probes between MIR31 gene and the 9p telomere. Finally, two digestion control probes and 12 reference probes have been included for data analysis.

This SALSA® MS-MLPA® probemix can be used to detect aberrant methylation of the CDKN2A, CDKN2B and CDKN2B-AS1 promoters. Methylation levels can be different for different tissues. Please use DNA derived from the same type of tissue and purified by the same method as the reference samples. This SALSA® MS-MLPA® probemix can also be used to detect copy number changes (deletions/duplications) of the CDKN2A-CDKN2B, CDKN2B-AS1, MTAP, MIR31 and PAX5 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 a single MLPA probe 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. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MS-MLPA® test.

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