SALSA MLPA P215 EXT probemix - 25 reactions

application: Multiple Osteochondromas
region: EXT1 8q24, EXT2 11p12 Detailní informace

Cena s DPH € 286.77
Cena bez DPH € 237.00
 25 react
Dostupnost Skladem
Kód produktu P215-025R

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

Detailní popis SALSA MLPA P215 EXT probemix - 25 reactions

P215-025R SALSA MLPA P215 EXT probemix – 25 rxn

description
Multiple osteochondromas, also known as hereditary multiple exostoses, is an autosomal dominant condition characterised by multiple projections of bone capped by cartilage. Most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Two conditions in which multiple exostoses occur are metachondromatosis and the Langer-Giedion syndrome. Mutations in either the EXT1 or the EXT2 gene are the cause of this disorder. EXT2 deletions are also found in Potocki-Shaffer patients. The proteins encoded by the EXT1 and EXT2 genes play a role in the expression of proteoglycans on the cell surface and in the extracellular matrix. Furthermore, the EXT1 and EXT2 genes may function as tumour-suppressors.

The EXT1 gene (11 exons) spans ~312.5 kb of genomic DNA and is located on chromosome 8q24.11, ~119 Mb from the p-telomere. Two probes are present for exons 1 and 11. The EXT2 gene (16 exons), spans ~149.2 kb of genomic DNA and is located on chromosome 11p11.2, ~44 Mb from the p-telomere.

The P215-B2 probemix contains probes for each of the EXT1 and EXT2 exons. In addition, 12 reference probes are included in this probemix, detecting several different autosomal chromosomal locations. Reference probes have been selected from regions which are expected not to be affected in osteochondromas.

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 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. 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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