Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P260 PALB2-RAD50-RAD51C probemix - 50 reactions

SALSA MLPA P260 PALB2-RAD50-RAD51C probemix - 50 reactions

SALSA MLPA P260 PALB2-RAD50-RAD51C probemix - 50 reactions

application: Fanconi Anemia
region: 5q31, 16p12, 17q12, 17q22 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P260-050R

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

Detailní popis SALSA MLPA P260 PALB2-RAD50-RAD51C probemix - 50 reactions

P260-025R SALSA MLPA P260 PALB2-RAD50-RAD51C-RAD51D probemix – 50 rxn

description
Fanconi anemia (FA) is an autosomal recessive disorder that affects all bone marrow elements and is associated with cardiac, renal and limb malformations as well as with dermal pigmentary changes. Proteins encoded by FA and/or breast cancer susceptibility genes cooperate in a common DNA damage repair signalling pathway.

Fanconi anemia (subtype FA-N) has been linked to biallelic mutations in the PALB2 gene. PALB2 was originally found to bind and co-localise with BRCA2-interacting protein in nuclear foci, permitting the stable intranuclear localization and accumulation of BRCA2. Monoallelic PALB2 mutations increase the risk of breast and pancreatic cancer. Mutations in PALB2 have been identified in breast cancer families. Recent studies have shown that PALB2 also interacts with BRCA1. Three more genes included in this probemix are RAD50, RAD51C and RAD51D. RAD50 encodes a protein essential for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance and meiotic recombination. Aberrations in RAD50 are the cause of Nijmegen breakage syndrome-like disorder. RAD51C and RAD51D encode for proteins involved in homologous recombination and repair of damaged DNA. These genes are located in the 17q23 region that is frequently amplified in breast tumours.

The PALB2 gene (13 exons) spans ~38 kb of the genomic DNA and is located on 16p12.2, ~24 Mb from the p-telomere. The P260-B1 probemix contains one probe for each exon of the PALB2 gene.
The RAD50 gene (25 exons) spans ~88 kb of genomic DNA and is located on 5q31.1, ~132 Mb from the p-telomere. The P260-B1 probemix contains probes for eight different exons of the RAD50 gene.
The RAD51D gene (10 exons) spans ~20 kb of genomic DNA and is located on 17q12, ~33 Mb from the p-telomere. The P260-B1 probemix contains one probe for each exon of the RAD51D gene.
The RAD51C gene (9 exons) spans ~42 kb of genomic DNA and is located on 17q22, ~57 Mb from the p-telomere. The P260-B1 probemix contains one probe for each exon of the RAD51C gene.
In addition, ten 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 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 this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test. 

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