Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P120 PANK2/PLA2G6 probemix - 100 reactions

SALSA MLPA P120 PANK2/PLA2G6 probemix - 100 reactions

SALSA MLPA P120 PANK2/PLA2G6 probemix - 100 reactions

application: Neurodegeneration with brain iron accumulation (NBIA)
region: PANK2 20q13, PLA2G6 22q13 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P120-100R

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

Detailní popis SALSA MLPA P120 PANK2/PLA2G6 probemix - 100 reactions

P120-100R SALSA MLPA P120 PANK2/PLA2G6 probemix – 100 rxn

Defects in the PANK2 and PLA2G6 genes result in neurodegeneration with brain iron accumulation (NBIA). NBIA is a rare autosomal recessive condition characterized by abnormal iron deposition in the basal ganglia and neuroaxonal dystrophy causing extrapyramidal features, dementia and ocular abnormalities.

The PANK2 gene encodes the pantothenate kinase enzyme, which is expressed at high levels in the brain. Pantothenate kinase is an essential regulatory enzyme in the biosynthesis of coenzyme A, which is important in intermediary and fatty acid metabolism. Mutations in PANK2 are associated with Harp syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Mutations in PLA2G6, which encodes phospholipase A2, can cause NBIA type 2 that is characterized by abnormal iron accumulation.

The PANK2 gene (9 exons) spans ~34.8 kb of genomic DNA and is located on chromosome 20p13, 3.8 Mb from the p-telomere. The P120-B1 probemix contains one probe for each exon of PANK2 and two probes for exons 1, 2, 4 and 6. No probes are present for exon 3 that is located very close to exon 2 and is only present in transcript variant 3.

The PLA2G6 gene (18 exons) spans ~70.3 kb of genomic DNA and is located on chromosome 22q13.1, 36.9 Mb from the p-telomere. Probes for each of the 18 exons of PLA2G6 are included with the exception of exon 1 which is only present in transcription variant 3 (NM_001199562.1). Two probes are present for exon 6. In addition, 11 reference probes are included in this probemix, detecting several different autosomal chromosomal locations. Possible copy number changes of this genomic region in healthy individuals can be found in the database of genome variants (http://projects.tcag.ca/variation).

This SALSA® MLPA® kit 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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