SALSA MLPA P268 DYSF probemix - 100 reactions

SALSA MLPA P268 DYSF probemix - 100 reactions

application: Limb girdle muscular dystrophies (LGMD)
region: DYSF 2p13 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P268-100R

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

Detailní popis SALSA MLPA P268 DYSF probemix - 100 reactions

P268-025R SALSA MLPA P268 DYSF probemix – 100 rxn

description
SD026 Artificial Duplication DNA: MRC-Holland has prepared a mixture of female genomic DNA from healthy individuals and a carefully titrated amount of plasmid that contains the target sequence recognised by several probes present in the selected MLPA probemixes. The use of SD026 in MLPA reactions performed with the selected MLPA probemixes will therefore show a duplication of several sequences. This SD026 can be ordered separately.

Limb-girdle muscular dystrophies (LGMD) are a group of phenotypically and genotypically heterogeneous disorders, characterised by progressive weakness and atrophy of the muscles of the pelvic and shoulder girdle. Mutations of the Dysferlin gene (DYSF) are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B). Patients with LGMD2B have symmetrical and selective involvement of proximal limb-girdle muscles. The disease shows wide intra- and interfamilial clinical variability. The age at onset ranges from 2 to 40 years, but the disease usually first appears in the second or third decade of life, with the development of proximal weakness in the lower limbs. Mutations in DYSF result in a cascade of events leading eventually to muscular dystrophy. The precise underlying mechanisms have yet to be elucidated.

The DYSF gene comprises 58 exons, spans ~233 kb of genomic DNA and is located on chromosome 2p13.2, approximately 72 Mb from the p-telomere. Copy number changes of this genomic region are found in healthy individuals and can be found in the database of genome variants (see http://projects.tcag.ca/variation/).

This P268-A2 DYSF probemix contains probes for 40 different DYSF exons. In addition, 8 reference probes located on other chromosomal locations are included.

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