FLNB probemix

Atelosteogenesis, Boomerang dysplasia, AD Larsen Syndrome.

region: 3p14.3 FLNB Detailní informace

Cena s DPH € 551.76
Cena bez DPH € 456.00
 50 reakcí
Dostupnost Skladem
Kód produktu P435-050R

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

Detailní popis FLNB probemix

P435-025R SALSA MLPA P435 FLNB probemix – 50 rxn

description
Mutations in the FLNB gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. FLNB lies on chromosome 3 and encodes the cytoplasmic protein Filamin B. Filamin B is responsible for regulating the cytoskeletal network by cross-linking actin, linking cell membrane to the cytoskeleton and regulating intracellular signaling pathways responsible for skeletal development.

The FLNB gene (47 exons) spans ~164 kb of genomic DNA and is located on 3p14.3, 58 Mb from the p-telomere. The P435-A1 probemix contains one probe for each exon of the gene, with the exception of exons 2, 5, 26, 37, 39 and 42 where no probe is present, and exon 1 which has two probes. 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 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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