SALSA MLPA P156 GALT probemix - 50 reactions


application: Classic galactosemia
region: GALT 9p13 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P156-050R

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

Detailní popis SALSA MLPA P156 GALT probemix - 50 reactions

P156-050R SALSA MLPA P156 GALT probemix – 50 rxn

Classic galactosemia, an inherited disorder of galactose metabolism, is caused by defects of the GALT gene, encoding galactose-1-phosphate uridyltransferase. Failure to thrive is the most common initial clinical symptom of galactosemia. The cardinal features of classic galactosemia are hepatomegaly, cataracts, and mental retardation. After exclusion of galactose from the diet, these signs and symptoms normalize. Classic galactosemia is estimated to occur 1 in 30,000 to 60,000 newborns.

The GALT gene (11 exons) spans ~ 3,4 kb of genomic DNA and is located on chromosome 9p13.3. The P156 probemix contains probes for each of the 11 GALT exons. One probe for the DNAI1 gene just upstream of GALT and one for the downstream IL11RA gene are included in this probemix. In addition, 10 reference probes are present in this probemix, detecting several autosomal chromosomal location.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more exons of the GALT gene in a DNA sample. Heterozygous deletions of probe 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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