SALSA MLPA P193 NPC1 probemix - 100 reactions

SALSA MLPA P193 NPC1 probemix - 100 reactions

application: Niemann-Pick type C disease (NPC)
region: NPC1, NPC2 Detailní informace

Cena s DPH € 1 176.12
Cena bez DPH € 972.00
 100 react
Dostupnost Skladem
Kód produktu P193-100R

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Detailní popis SALSA MLPA P193 NPC1 probemix - 100 reactions

P193-100R SALSA MLPA P193 NPC1-NPC2-SMPD1 probemix – 100 rxn

Niemann-Pick type C disease (NPC) is an autosomal recessive cholesterol-processing disorder characterised by lysosomal accumulation of low density lipoprotein (LDL)-derived cholesterol. Mutations in the NPC1 gene cause approximately 95% of the cases. The other 5% is being caused by NPC2. The NPC1 gene provides instructions for producing a protein located mainly in the membranes of the lysosomes and endosomes, compartments in the cell that digest and recycle materials. While its exact function is not completely understood, this protein plays a role in the movement of cholesterol and other types of lipids (fats) across cell membranes.

Mutations in the SMPD1 gene cause Niemann-Pick disease types A and B. This gene provides instructions for producing acid sphingomyelinase, an enzyme found in the lysosomes where it processes lipids, such as sphingomyelin. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals.

The NPC1 gene comprises 25 exons, spans ~55 kb of genomic DNA and is located at chromosome 18q11.2, about 23.5 Mb from the p-telomere. The NPC2 gene comprises 5 exons, spans ~13 kb of genomic DNA and is located at chromosome 14q24.3, about 74 Mb from the p-telomere. The SMPD1 gene comprises 4 exons, spans 4.6 kb of genomic DNA and is located at chromosome 11p15.4, about 6.3 Mb from the p-telomere.

This P193-B1 NPC1-NPC2-SMPD1 probemix contains probes for each of the 25 NPC1 exons (two for exon 1) and two probes detecting the wild type sequences of the Pro1007Ala mutation (exon 20) and the Ile1061Thr mutation (exon 21). The presence of the mutations will result in a  decreased probe signal. Furthermore, it contains one probe for each of the five NPC2 exons and one probe for each of the six SMPD1 exons. In addition, 10 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 NPC1, NPC2 and SMPD1 genes and to detect the presence of the aforementioned (point) 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 this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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