Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P368 DCLRE1C probemix - 100 reactions

SALSA MLPA P368 DCLRE1C probemix - 100 reactions

application: SCID and Omenn syndrome

region: 10p13; DCLRE1C Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P368-100R

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

Detailní popis SALSA MLPA P368 DCLRE1C probemix - 100 reactions

P368-025R SALSA MLPA P368 DCLRE1C probemix – 100 rxn

description
The nuclease ARTEMIS (encoded by DCLRE1C, DNA crosslink repair 1C) is an essential factor in the process of V(D)J recombination and an important component of the nonhomologous end joining (NHEJ) DNA double-strand break (DSB) repair pathway. Patients with mutations in the DCLRE1C gene suffer from radiosensitive Severe Combined Immunodeficiency (SCID) or radiosensitive Omenn syndrome. Pannicke et al. (Hum Mutat., 2010, 31:197-207) found that by far the most frequent mutations (59%) were gross deletions of exons 1-3 or 1-4 due to homologous recombination of the wild-type DCLRE1C gene with a pseudo-DCLRE1C gene located 62.5 kb upstream of DCLRE1C. MEIG1 located between the gene and pseudogene is lost by these gross deletions (Pannicke et al., 2010, Hum Mutat. 31:197-207).

The DCLRE1C gene (16 exons) spans ~47 kb of genomic DNA and is located on 10p13, 14.9 Mb from the p-telomere. The P368-B1 probemix contains one probe for each exon of the gene and two probes for exons 1 and 16. This probemix furthermore contains several probes for the 10p13 region, upstream of DCLRE1C, including 3 probes for MEIG1 and 2 probes for the pseudo-DCLRE1C gene. In addition, 10 reference probes are included in this probemix, detecting 10 different autosomal chromosomal locations.

Please note that several copy number changes of the DCLRE1C genomic region in healthy individuals are listed in the database of genome variants (http://projects.tcag.ca/variation).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) 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 these genes 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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