Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P369 Smith-Magenis probemix - 100 reactions

SALSA MLPA P369 Smith-Magenis probemix - 100 reactions

SALSA MLPA P369 Smith-Magenis probemix - 100 reactions

application: Smith-Magenis syndrome

region: 17p11.2 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P369-100R

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

Detailní popis SALSA MLPA P369 Smith-Magenis probemix - 100 reactions

P369-025R SALSA MLPA P369 Smith-Magenis probemix – 100 rxn

Smith-Magenis syndrome (SMS) is a developmental disorder characterised by craniofacial anomalies, and several neurological and behavioural abnormalities. It is primarily caused by an interstitial deletion on chromosome 17p11.2 and comprises multiple genes, including RAI1. In most cases (~75%), SMS is due to a 3.7 Mb deletion, but atypical (smaller or larger) deletions, as well as RAI1 mutations have been found in patients. Haploinsufficiency of RAI1 is therefore thought to play a major role in SMS (Elsea and Girirajan, 2008, Eur J Hum Genet.). Duplication of the same 3.7 Mb region is associated with Potocki-Lupski syndrome, which shows some phenotypical overlap with SMS, yet the clinical features of each syndrome are somewhat distinct (Shchelochkov et al, 2010, Am J Hum Genet.). As in SMS, size of the duplication can vary between patients.
This P369-A1 MLPA probemix contains 21 probes in the commonly deleted/duplicated 17p11.2 area, including probes for each of the 6 RAI1 exons. Also, one 17p probe telomeric, and one 17p probe centromeric of the 3.7 Mb region are included. These probes can help to identify atypical large deletions/duplications. In addition, two probes in the 2q37.3 region are included, among which one probe for the HDAC4 gene. Haploinsufficiency (either by a mutation or deletion) of the HDAC4 gene causes Brachydactyly-mental retardation syndrome, which has an overlapping phenotype with SMS. Deletion or mutation of the HDAC4 gene results in reduced expression of RAI1 (Williams et al, 2010, Am J Hum Genet.). Finally, nine reference probes detecting sequences elsewhere in the genome have been included.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the 17p11 region. Heterozygous deletions of probe 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.

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