Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P354 KIT SNAI2 probemix - 100 reactions

SALSA MLPA P354 KIT SNAI2 probemix - 100 reactions

SALSA MLPA P354 KIT SNAI2 probemix - 100 reactions

Piebaldism/KIT. Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P354-100R

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

Detailní popis SALSA MLPA P354 KIT SNAI2 probemix - 100 reactions

P354-025R SALSA MLPA P354 SNAI2 probemix – 100 rxn

description
Piebaldism is a disorder of pigmentation, characterised by white patches of skin and hair. Defects in the proto-oncogene KIT is the main cause of the disorder, which can be inherited in autosomal dominant fashion. The protein encoded by this gene is a tyrosine kinase receptor. Some cases of piebaldism are caused by mutations in the SNAI2 gene, encoding a zinc finger transcription factor. Tyrosine receptor signaling is affected, resulting in impaired melanoblast development and melanogenesis.

The KIT gene (21 exons) spans ~83 kb of genomic DNA and is located on 4q12, 55 Mb from the p-telomere. This P354 probemix contains two probes for exon 1 of the gene and one probe for each of the other exons. The SNAI2 gene (3 exons) spans ~3.7 kb of genomic DNA and is located on 8q11, 50 Mb from the p-telomere. This P354 probemix contains one probe for each exon of the gene. Possible copy number changes of these genomic regions in healthy individuals can be found in the database of genome variants (http://projects.tcag.ca/variation). In addition, 10 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 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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