Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P426 Cystinuria probemix - 50 reactions

SALSA MLPA P426 Cystinuria probemix - 50 reactions

Cystinuria.

region: SLAC3A1, 2p12 and SLC7A9 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P426-050R

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

Detailní popis SALSA MLPA P426 Cystinuria probemix - 50 reactions

P426-025R SALSA MLPA P426 Cystinuria probemix – 50 rxn

description
Cystinuria (OMIM 220100) is a disorder characterized by impaired reabsorption of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the brush border membrane of the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. This eventually leads to accumulation of (cystine) crystals or stones in the kidneys and bladder, resulting in obstructive uropathy, pyelonephritis and sometimes renal failure. Thus far, two genes have been identified to cause cystinuria, SLC3A1 and SLC7A9, which encode parts of a transporter protein complex.
A large number of mutations in these genes have been identified in cystinuria, including deletions and duplications. Larger deletions affecting SLC3A1 might result in the so-called hypotonia-cystinuria syndrome (HCS; OMIM 606407). This autosomal recessive congenital disorder is associated with deletions of at least the SLC3A1 and the nearby PREPL genes on chromosome 2p21. The main clinical features include a generalised hypotonia at birth, failure to thrive, growth retardation and cystinuria.

The SLC3A1 gene (~45 kb of genomic DNA; 10 exons) and PREPL gene (~44 kb of genomic DNA; 15 exons) are juxtaposed located on chromosome 2p21, about 45 Mb from the p-telomere. The SLC7A9 gene (13 exons) spans ~39 kb of genomic DNA and is located on chromosome 19q13.11, about 33 Mb from the p-telomere.
The P426-A1 probemix contains one probe for each of the SLC3A1 and SLC7A9 exons, as well as 12 probes for the PREPL gene. In addition, one probe up- and downstream of both chromosomal regions are included to determine the extent of a potential deletion/duplication. Furthermore, 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(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. 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. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons.

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