SALSA MLPA P417 BAP1 probemix - 100 reactions

SALSA MLPA P417 BAP1 probemix - 100 reactions

Melanocytic tumours, mesothelioma.

region: BAP1, 3p21.1 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P417-100R

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

Detailní popis SALSA MLPA P417 BAP1 probemix - 100 reactions

P417-025R SALSA MLPA P417 BAP1 probemix – 100 rxn

BAP1 (BRCA1 associated protein 1) gene is a tumour suppressor gene that functions in the BRCA1 growth control pathway and thereby has a role in cell proliferation and growth inhibition. BAP1 gene locates in the 3p21 region, which is frequently affected by LOH or deletions in several cancer types including lung, breast and ovarian cancer but also in uveal melanoma and mesothelioma.

Recent research suggests that uveal melanomas with monosomy of chromosome 3 (frequency 50-60% of all uveal melanomas) represent a distinct pathological entity as compared to uveal melanomas with normal disomy 3. The putative target gene on the 3p arm is suggested to be BAP1, as inactivating somatic mutations of BAP1 were identified in 26 of 31 (84%) of patients with metastasizing uveal melanoma (Harbour JW et al., 2010, Science 330:1410-1413). Moreover, BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma (Testa JR et al., 2011, Nat Genet. 43:1022-1025; Bott M et al., 2011, Nat Genet. 43:668-672). Two recent studies have suggested that germline mutations in BAP1 predispose to melanocytic tumours (Wiesner T et al., 2011, Nat Genet. 43:1018-1021) and to uveal melanoma, lung carcinoma and meningioma (Abdel-Rahman MH et al., 2011, J Med Genet. 48:856-9). When a subset of these familial melanoma samples were analysed with aCGH, a frequent loss of 3p21 region was detected suggesting a second hit to eliminate the remaining wild-type allele of BAP1.

The BAP1 gene (17 exons) spans ~9 kb of genomic DNA and is located on chromosome 3p21.1, ~52.4 Mb from the p-telomere. The P417-B1 probemix contains one probe for each exon of BAP1 gene (17 exons). In addition, 10 flanking probes for the BAP1 gene and also 13 reference probes are included in this probemix. Reference probes included in this mix detect autosomal chromosomal locations, which are relatively quiet both in melanocytic tumours and in mesothelioma.

This SALSA® MLPA® probemix is designed to detect copy number changes of the above mentioned gene. 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 (e.g. SNP) 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 may be more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions / duplications and amplifications detected by a single MLPA probe should always be confirmed by other methods. Users should always verify the latest scientific literature when interpreting their findings. Finally, note that most defects in BAP1 gene are expected to be small (point) mutations, which will not be detected by this SALSA® MLPA® test.

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