Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P391 LAMA2 mix1 probemix - 50 reactions

SALSA MLPA P391 LAMA2 mix1 probemix - 50 reactions

application: CMD, Merosin-deficient
region: 6q22.33 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P391-050R

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

Detailní popis SALSA MLPA P391 LAMA2 mix1 probemix - 50 reactions

Congenital muscular dystrophies (CMD) are a group of neuromuscular disorders. Merosin-deficient CMD is a severe form that is caused by mutations in the laminin alpha-2 gene (Lama2). The extensive laminin protein family consists of large extracellular trimeric glycoproteins found in muscle fibers.

Merosin-deficient CMD is characterised by an absence of laminin alpha-2 chain (formerly named merosin) around muscle fibres which leads to elevated serum creatine kinase (CK), especially in the early months of life, no independent ambulation due to weakness and contractures, respiratory insufficiency which could need tracheotomy. Most patients have normal intelligence but some have been reported to show moderate mental retardation and epilepsy. In 2008 Oliveira et al., described 26 patients in which 10 alleles have a deletion of exon 56.

The LAMA2 gene (65 exons) spans ~260 kb of genomic DNA and is located on 6q22.33, 129 Mb from the p-telomere. Two of the exons are unusually small, being 6 and 12 bp, (exons 44 and 53 respectively). These P391-A1/P392-A1 probemixes contain one probe for each exon of the gene with the exception of exon 18, 44 and 48. Two probes are present for exon 1, 2, 4 and 65 and three probes for exon 56.
In addition to the LAMA2 probes, the P391 probemix contains 9 reference probes and the P392 mix contains 8 reference probes, detecting several different autosomal chromosomal locations.
Please note that copy number variation of this genomic region in healthy individuals has been described and can be found in the database of genome variants http://projects.tcag.ca/variation).

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