SALSA MLPA P116 SGC probemix - 100 reactions

SALSA MLPA P116 SGC probemix - 100 reactions

application: Limb-girdle muscular dystrophy (LGMD)
region: SGCA, SGCB, SGCD, SGCG, FKRP Detailní informace

Cena s DPH € 1 176.12
Cena bez DPH € 972.00
 100 react
Dostupnost Skladem
Kód produktu P116-100R

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Detailní popis SALSA MLPA P116 SGC probemix - 100 reactions

P116-100R SALSA MLPA P116 SGC probemix – 100 rxn

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.

Mutations in SGC cause limb-girdle muscular dystrophy (LGMD). Over time (usually after many years), patients with LGMD lose muscle bulk and strength. The distal muscles are affected late in LGMD, if affected at all. LGMD is typically an inherited disorder, though it may be inherited as a dominant, recessive or X-linked genetic defect. The muscle cells of patients with LGMD cannot properly form the proteins needed for normal muscle function. Defects of different proteins are involved in LGMD, each related to a specific type of muscular dystrophy.

Autosomal recessive LGMD is a genetically heterogeneous disorder. Of the many genes that can result in this disorder, besides 10 reference probes, the following genes are present in the P116 SGC probemix:

Gene Number of exons Number of probes Length Location LGMD type
SGCA 10 exons 10 10,1 kb 17q21 LGMD2D
SGCB 6 exons 6 13,5 kb 4q12 LGMD2E
SGCD 9 exons 9 439,3 kb 5q33 LGMD2F
SGCG 8 exons 8 144,2 kb 13q12 LGMD2C
FKRP 4 exons 5* 12,4 kb 19q13 LGMD2I
* This includes a probe specific for the FKRP L276I mutation. This probe will only generate a signal when the mutation is present.

SD030 Sample DNA
Please note that the mutation-specific probe has only been tested on control plasmids and not on positive human DNA samples with the point mutation! This SD030 sample DNA is provided with each probemix vial and can be used in data binning in the fragment analysis and as a positive control for the mutation-specific probe (see next page).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the SGCA, SGCB, SGCD, SGCG and FKRP genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height 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 height, 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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