SALSA MLPA P387 NPHP1 probemix - 50 reactions

application: Familial juvenile nephronophthisis

region: NPHP1 2q13 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P387-050R

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

Detailní popis SALSA MLPA P387 NPHP1 probemix - 50 reactions

P387-025R SALSA MLPA P387 NPHP1 probemix – 50 rxn

description
Familial juvenile nephronophthisis is characterized by a kidney disorder involving both tubules and glomeruli. Defects in the NPHP1 gene on chromosome 2q13 is one of the causes of juvenile nephronophthisis. This protein appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures.

Defects in this gene are also associated with Senior-Loken syndrome type 1, referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease. Furthermore, the gene NPHP1 is associated with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.

The NPHP1 gene (20 exons) spans ~82 kb of genomic DNA and is located on 2q13, 110.9 Mb from the p-telomere. The P387-A1 probemix contains one probe for each exon of the gene. In addition, 8 reference probes are included in this probemix, 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).

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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