Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P244 AIP-MEN1 probemix - 100 reactions

SALSA MLPA P244 AIP-MEN1 probemix - 100 reactions

application: Multiple endocrine neoplasia (MEN)
region: AIP 11q13, MEN1 11q13, CDKN1B 12p13 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P244-100R

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

Detailní popis SALSA MLPA P244 AIP-MEN1 probemix - 100 reactions

P244-025R SALSA MLPA P244 AIP-MEN1-CDKN1B probemix – 100 rxn

description
Multiple endocrine neoplasia (MEN) is part of a group of autosomal dominant disorders characterised by the occurrence of tumours in at least two endocrine glands. Two classical syndromes have been both clinically and genetically well characterised: the MEN type 1 (MEN1) and type 2 (MEN2). MEN1 is caused by loss-of-function mutations in the MEN1 gene, and affected patients typically develop multiple parathyroid adenomas, pancreatic islet cell neoplasia, and anterior pituitary adenomas. The MEN1 gene encodes menin, a tumour suppressor gene likely involved in several cellular processes such as DNA repair and apoptosis. Then MEN1 gene comprises 10 exons, spans about 7 kb of genomic DNA and is located at chromosome 11q13.1, about 64 Mb from the p-telomere.

MEN2 can be divided in two forms, MEN2A and MEN2B (formerly known as MEN3), and is caused by activating germline mutations in the RET proto-oncogene. Probemix P169 contains probes for each of the RET exons.

More recently, mutations in the CDKN1B gene (encoding the cell cycle inhibitor p27) was found in patients with multiple endocrine tumours in the absence of MEN1 and RET mutations, leading to a novel MEN syndrome, named MEN4. The CDKN1B gene (3 exons) spans about 5 kb of genomic DNA and is located on chromosome 12p13.1, about 12 Mb from the p-telomere.

Pituitary adenomas are often benign and occur with a frequency of 1:1000. These adenomas are often sporadic but a small part (5%) occurs as part of other familial cancer e.g. MEN1. Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene, which is a tumour suppressor gene, have shown to be a low-penetrant factor for pituitary adenoma predisposition (PAP). The AIP gene comprises 6 exons, spans about 8 kb of genomic DNA and is located at chromosome 11q13.2, about 67 Mb from the p-telomere.

This P244-C1 AIP-MEN1-CDKN1B probemix contains 11 probes for the 10 exons of the MEN1 gene. In addition, 3 probes for each of the CDKN1B exons is included. Furthermore, this probemix contains probes 7 probes for the AIP gene (2 probes for exon 1) and 6 probes for other genes in 11q13 region. In addition, 10 reference probes are included in this probemix, detecting several 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 this gene 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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