Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P275 MAPT-GRN probemix - 100 reactions

SALSA MLPA P275 MAPT-GRN probemix - 100 reactions

SALSA MLPA P275 MAPT-GRN probemix - 100 reactions

application: Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy
region: MAPT 17q21 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P275-100R

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

Detailní popis SALSA MLPA P275 MAPT-GRN probemix - 100 reactions

P275-025R SALSA MLPA P275 MAPT-GRN probemix – 100 rxn

description
MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type.

The MAPT gene (15 exons), spans ~134 kb of genomic DNA and is located at chromosome 17q21, 41 Mb from the p-telomere. This region on 17q21, including the MAPT and CRHR1 genes, is flanked by repeated DNA elements and is often (20% in Europeans) present in inverted position. Deletion of this region results in the “17q21.31 microdeletion syndrome” (OMIM 610443), which is a frequent cause of mental retardation. Duplication of the same region has also been detected in a patient with severe psychomotor developmental delay (Kirchhoff, M. et al., 2007; Europ. J. Med. Genet. 50: 256-263).

The GRN (PGRN) gene (13 exons), spans ~8 kb of genomic DNA and is located at chromosome 17q21, ~40 Mb from the p-telomere. Defects in the GRN (PGRN) gene cause frontotemporal lobar degeneration.

The P275-B1 MAPT-GRN probemix contains 14 probes for MAPT gene and 5 probes each for GRN (PGRN) and the CRHR1 genes. In addition, it contains 10 probes for other genes in the 17q21 region (flanking probes), as well as 10 reference probes detecting different autosomal chromosomal locations.

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 these genes are expected to be small (point) mutations, most of which will not be detected by this SALSA® MLPA® test.
 

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