SALSA MLPA P305 AGXT probemix - 50 reactions

Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2).

region: AGXT, GRHPR Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P305-050R

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Detailní popis SALSA MLPA P305 AGXT probemix - 50 reactions

P305-025R SALSA MLPA P305 AGXT probemix – 50 rxn

Mutations in the AGXT gene can result in a glyoxylate aminotransferase (AGT) deficiency, causing type 1 primary hyperoxaluria (PH1). PH1 is an autosomal recessive disease characterized by excessive oxalate production by hepatocytes, caused by the deficiency of peroxisomal alanine-glyoxylate aminotransferase (AGXT) activity. Persistent hyperoxaluria causes nephrocalcinosis and urolithiasis, leading to renal failure, followed by tissue oxalosis with life-threatening complications. Type 2 primary hyperoxaluria (PH2) can be caused by mutations in the gene encoding for hydroxypyruvate reductase (GRHPR).

The AGXT gene (11 exons) spans ~10.4 kb of genomic DNA and is located on 2q37.3 (242 Mb from p-telomere; only 1.5 Mb from the q-telomere). The GRHPR gene (9 exons) spans ~14.3 kb and is located on 9p13.2 (37,4 Mb from p-telomere).

The P305-B2 probemix contains probes for each of the 11 exons of AGXT (two probes for exon 1) and mutation-specific probes for the AGXT I244T mutation (in exon 7), the AGXT C33_34insC mutation (in exon 1) and the AGXT G170R mutation (in exon 4). Furthermore, this probemix contains 8 probes for GRHPR (a probe for exon 5 is not present) and 11 reference probes, detecting several different autosomal chromosomal locations.

SD030 Sample DNA
Please note that the mutation-specific probes have only been tested on control plasmids and not on positive human DNA samples with the point mutation! This SD030 sample DNA is provided with each probemix vial and can be used in data binning in the fragment analysis and as a positive control for the mutation-specific probes (see next page).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes and to detect the presence of the aforementioned mentioned mutations 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 these genes are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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