Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P231 FGF10 FGFR2 probemix - 100 reactions

SALSA MLPA P231 FGF10 FGFR2 probemix - 100 reactions

SALSA MLPA P231 FGF10 FGFR2 probemix - 100 reactions

application: Autosomal dominant lacrimoauriculodentodigital (LADD)
region: FGF10 5p13, FGFR2 10q26 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P231-100R

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

Detailní popis SALSA MLPA P231 FGF10 FGFR2 probemix - 100 reactions

P231-025R SALSA MLPA P231 FGF10-FGFR2 probemix – 100 rxn

description
Autosomal dominant lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly, mainly affecting lacrimal and salivary glands and ducts, ears, teeth, and distal limb segments. Rohmann et al. (2006) found that the mutations in the FGFR2 gene and the FGFR3 gene are LADD disease-causing. Furthermore, the LADD syndrome has been found in association with mutations in the FGF10 gene and deletions of part or the complete FGF10 gene have also been described. It has been noted that FGF10 is an FGFR ligand.

The FGF10 gene (3 exons) spans ~83.7 kb of genomic DNA and is located on chromosome 5p13, ~44.3 Mb from p-telomere. A possible 4th exon (3.5 kb from exon 3) for the FGF10 gene has been found in a rare transcript variant, which consists of exons 1, 2 and 4, by B. Wollnik, Cologne, Germany (personal communication, unpublished). The clinical significance of exon 4 aberrations is not clear. The FGFR2 gene (21 exons) spans 120 kb of genomic DNA and is located on chromosome 10q26, ~123.2 Mb from p-telomere. The TWIST1 gene is located on 7p21, contains two exons and spans only 2.2 kb, ~19.2 Mb from p-telomere. Mutations in the TWIST1 gene are the major cause of Saethre-Chotzen syndrome (SCS, MIM 101400). It has been estimated that 11% of SCS patients have a deletion of one copy of the TWIST1 gene.

The P231-B1 probemix contains two probes for each of the four exons of FGF10 as well as nine probes, including a mutation specific probe (3-bp Del, 1947AGA), for the FGFR2 gene. Next to this the probemix contains three probes for TWIST1. Furthermore, it contains two flanking probes in the 5p13 region and 8 reference probes 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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