SALSA MLPA P289 LMX1B probemix - 50 reactions

application: Nail patella syndrome (NPS)
region: LMX1B 9q33 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P289-050R

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

Detailní popis SALSA MLPA P289 LMX1B probemix - 50 reactions

P289-025R SALSA MLPA P289 LMX1B probemix – 50 rxn

description
Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by nail and skeletal malformations, nephropathy and glaucoma. The renal change resembles glomerulonephritis. Mutations within the LMX1B gene are found in 85% of families with NPS (MacIntosh, I. et al., 1998, Am J Hum Genet.). This gene has been characterised as the causative gene of NPS. It is expressed in podocytes, which are highly specialized visceral epithelial cells in the glomeruli of the kidney and play a critical role in the maintenance of the glomerular filtration barrier. The protein encoded by this gene (LMX1B protein) has 2 zinc-binding LIM domains at the amino terminus and a homeodomain in the middle. The LIM domains are responsible for the interaction with other proteins, whereas the homeodomain binds to DNA. Absence or inactivation of the LIM domain inhibits the interaction with other transcription factors involved in DNA binding. Despite the abundant information about the LMX1B gene, MLPA revealed new LMX1B gene deletions (Bongers, E. et al., 2008, Eur J Hum Genet.). Please note that the MLPA probemix used by Bongers et al. is different from this P289 probemix.

The LMX1B gene (8 exons) spans ~86.6 kb of genomic DNA and is located on chromosome 9q33, ~128 Mb from the p-telomere. The P289-A1 probemix contains one probe for each exon of the gene. This probemix furthermore contains a probe for the 9q34 region. In addition, 9 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 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 this gene is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.

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