Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P331 COL5A1 MIX-1 probemix - 100 reactions

SALSA MLPA P331 COL5A1 MIX-1 probemix - 100 reactions

application: Ehlers-Danlos Syndrome
region: COL5A1 9q34.3 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P331-100R

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

Detailní popis SALSA MLPA P331 COL5A1 MIX-1 probemix - 100 reactions

P331-100R SALSA MLPA P331 COL5A1 MIX-1 probemix – 100 rxn

Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders described by hyperextensible skin, articular/joint hypermobility and soft tissue fragility. The classic subtypes of EDS, type I and type II, are caused by mutations in the type V collagen genes COL5A1 and COL5A2. Type V collagen appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen.
The COL5A1 gene (66 exons) spans ~203 kb of genomic DNA and is located on 9q34.3, ~137 Mb from the p-telomere. The P331-A1 and P332-A1 probemixes contain one probe for each exon of the gene with the exception of exon 12, 33, 36, 49, 54 and 66. In addition, 11 and 9 reference probes are included in the P331-A1 and P332-A1 probemixes respectively, detecting several different autosomal chromosomal locations. The database of genomic variants mentions several copy number changes in this genomic region have been found in healthy individuals (see http://projects.tcag.ca/variation).

These SALSA® MLPA® probemixes are 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 these SALSA® MLPA® tests.

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