Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P433 ARID1A-ARID1B probemix - 50 reactions

SALSA MLPA P433 ARID1A-ARID1B probemix - 50 reactions

SALSA MLPA P433 ARID1A-ARID1B probemix - 50 reactions

Neuroblastoma, ovarian cancer + various other tumour, types + mental retardation.

region: ARID1A, ARID1B Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P433-050R

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

Detailní popis SALSA MLPA P433 ARID1A-ARID1B probemix - 50 reactions

P433-025R SALSA MLPA P433 ARID1A-ARID1B probemix – 50 rxn

description
The ARID1 family contains two members: ARID1A (AT rich interactive domain 1A) and ARID1B (AT-rich interactive domain 1B), which share 80% amino acid homology and are evolutionarily conserved. These genes encode proteins for the SWI/SNF chromating modelling complex. Both ARID1A and ARID1B are able to bind DNA and are suggested to help target the SWI/SNF complexes to the chromatin location that needs to be remodelled.

Chromosomal deletions and mutations of ARID1A and ARID1B have been identified in 11% of childhood neuroblastoma and suggested to associate with early treatment failure and decreased survival. Intragenic deletions of ARID1B were detected in this same study in 7% of neuroblastoma patient samples (Sausen M et al. 2012, Nat Genet. 45:12-17). Also, approximately 50% of ovarian clear cell carcinomas carry inactivating mutations in ARID1A (Jones S et al. 2010, Science. 330:228-31; Wiegand KC et al. 2010, N Engl J Med 363:1532-43). ARID1A is located at 1p36.11 chromosomal band, which suggested contain several tumour-suppressor genes and, which is also commonly deleted in different tumour types. Frequent ARID1A aberrations have been observed in many cancer types, including up to 17% of hepatocellular carcinomas (Guichard C et al. 2012, Nat Genet. 44:694-8; Fujimoto A et al. 2012, Nat Genet. 44:760-4; Huang J et al. 2012, Nat Genet. 44:1117-21), in 10-29% of gastric cancers (Wang K et al. 2011, Nat Genet. 43:1219-23; Zang ZJ et al. 2012, Nat Genet. 44:570-4), up to 37% of breast cancers (Cornen S et al. 2012, Oncogene. 31:4255-6), and loss of ARID1A expression is associated with poor prognosis in urothelial bladder cancer (Balbás-Martínez C et al. 2013, PLoS ONE 8: e62483). ARID1A-ARID1B gene aberrations are typically loss-of-function changes; they can exhibit biallelic inactivation or loss of protein expression, consistent with a tumour suppressor mechanism (Garraway LA et al. 2013, Cell. 153:17-37).

Moreover, ARID1A and ARID1B genes have been implicated in Coffin-Siris syndrome and in mental retardation (OMIM 614607 and OMIM 614562). Both intragenic duplications and microdeletions of ARID1B have been described in patients with unexplained intellectual disability (Hoyer J et al. 2012, Am J Hum Genet. 90: 565-572) and in patients with Coffin-Siris syndrome (Santen GW et al. 2012, Nat Genet. 44:379-80 and Tsurusaki Y et al. 2012, Nat Genet. 44:376-8).

The ARID1A gene (20 exons) spans ~86 kb of genomic DNA and is located at 1p36.11, 27 Mb from the p-telomere. The P433-A1 probemix contains one probe for each exon of the ARID1A gene and two probes for exon 1 and 18. The ARID1B gene (20 exons) spans ~431 kb of genomic DNA and is located at 6q25.3, 14 Mb from the q telomere. The P433-A1 probemix contains one probe for each exon of the gene and two probes for exon 1. In addition, a probe for intron 5 is present. Also, 12 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect copy number changes of one or more sequences in the above mentioned 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.

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