Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P107 Neurometabolic probemix - 50 reactions

SALSA MLPA P107 Neurometabolic probemix - 50 reactions

application: Neurometabolic disorders
region: ASPA, MLC1, MLYCD, D2HGDH, L2HGDH Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P107-050R

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

Detailní popis SALSA MLPA P107 Neurometabolic probemix - 50 reactions

P107-050R SALSA MLPA P107 Neurometabolic probemix – 50 rxn


Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurological disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Mutations in the MLC1 gene, encoding a putative membrane protein, have been identified as a  cause for MLC. The MLC1 gene comprises 13 exons, is located on 22q13.33 and spans 26.5 kb. One probe for each MLC1 exon of the major transcript variant is included in this probemix.

The L2HGDH gene encodes L-2-hydroxyglutarate dehydrogenase, a  FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. The L2HGDH gene has been mapped to chromosome 14q21.3. The gene comprises 10 exons and spans 74.6 kb. The P107 contains one probe for each L2HGDH exon.

The D2HGDH gene encodes D-2hydroxyglutarate dehydrogenase, a  mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in the D2HGDH gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. The D2HGDH gene has been mapped to chromosome 2q37.3. The gene comprises 10 exons and spans 32.5 kb. Five probes for D2HGD exons are included in this probemix.

Malonyl-CoA decarboxylase deficiency (MCD; OMIM 248360) is a rare autosomal recessive (liver, brain, heart, and skeletal muscle) metabolic disorder characterized by malonic aciduria, developmental delay, seizures, hypoglycemia, acidosis, short stature and cardiomyopathy. The disorder is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD; OMIM 606761) on 16q23.3. The gene comprises 5 exons and spans 17.1 kb. The P107 probemix contains one probe for each MLYCD exon.

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