SALSA MLPA P068 HMGCS2 probemix - 100 reactions

SALSA MLPA P068 HMGCS2 probemix - 100 reactions

application: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS)
region: HMGSC2 1p13
  Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P068-100R

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

Detailní popis SALSA MLPA P068 HMGCS2 probemix - 100 reactions

P068-100R SALSA MLPA P068 HMGCS2 probemix – 100 rxn

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2) catalyses the first step of ketogenesis from acetyl-CoA and acetoacetyl-CoA and is encoded by the HMGCS2 gene. HMGCS2 deficiency is inherited as a recessive trait resulting in hypoketotic hypoglycaemic coma after prolonged fasting during gastrointestinal infections during childhood. HMGCS2 is expressed in the liver and testis, but is absent in other body cells.

The HMGCS2 gene (10 exons) spans 21 kb of genomic DNA and is located on 1p12, 120 Mb from the p-telomere. The P068-B2 probemix contains two probes for exon 1 and one probe for each of the other exons of the gene. Additionally, the probemix contains 3 probes upstream of exon 1 and 11 reference probes.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the HMGCS2 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 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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