Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P058 IGHMBP2 probemix - 100 reactions

SALSA MLPA P058 IGHMBP2 probemix - 100 reactions

SALSA MLPA P058 IGHMBP2 probemix - 100 reactions

application: Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6
region: IGHMBP2 11q13 Detailní informace

Cena s DPH € 1 176.12
Cena bez DPH € 972.00
 100 react
Dostupnost Skladem
Kód produktu P058-100R

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

Detailní popis SALSA MLPA P058 IGHMBP2 probemix - 100 reactions

P058-100R SALSA MLPA P058 IGHMBP2 probemix – 100 rxn

Mutations in the IGHMBP2 gene can result in autosomal recessive distal spinal muscular atrophy 1 (DSMA1), also referred to as spinal muscular atrophy with respiratory distress (SMARD1) as well as distal hereditary motor neuronopathy type VI (dHMN6 or HMN6).

Distal SMA (DSMA) is distinguished from proximal autosomal recessive spinal muscular atrophy (SMA) by the affected primary muscles. Like the SMN1 gene, which is mutated in SMA, IGHMBP2 colocalises with the RNA processing machinery in both the cytoplasm and the nucleus. IGHMBP2 and SMN1 share common functions important to motor neuron maintenance and integrity in mammals. IGHMBP2 is the second gene found to be defective in SMA.

The IGHMBP2 gene (15 exons) spans ~37 kb of genomic DNA and is located on chromosome 11q13.3, ~0.7 Mb from the p-telomere. This IGHMBP2 gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region, therefor it is the immunoglobulin mu binding protein 2. The P058-A2 IGHMBP2 probemix contains one probe for each exon of the gene, with two probes for exon 1. In addition, 10 reference probes are included in this probemix, detecting 9 different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned IGHMBP2 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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