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SALSA MLPA Probemix P116 SGC

Limb-girdle muscular dystrophy (LGMD)

Region: SGCA, SGCB, SGCD, SGCG, FKRP

General Information: The SALSA MLPA Probemix P116 SGC is a research use only (RUO) assay for the detection of deletions or duplications in the SGCA, SGCB, SGCD, SGCG and FKRP genes, which are associated with Limb-Girdle Muscular Dystrophy. This Probemix can also be used to detect the presence of the FKRP L276I point mutation.

Limb-Girdle Muscular Dystrophy (LGMD) is characterised by loss of muscle bulk and strength in patients. 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, the following genes are present in the P116 SGC probemix:

Gene Number of exons Number of probes Length Location LGMD type
SGCA 10 exons 11¬ 9.9 kb 17q21 LGMD2D
SGCB 6 exons 6 17.6 kb 4q12 LGMD2E
SGCD 9 exons 9 441.0 kb 5q33 LGMD2F
SGCG 8 exons 8 144.2 kb 13q12 LGMD2C
FKRP 4 exons 5§ 12.5 kb 19q13 LGMD2I
¬ This includes a flanking probe located downstream of the SGCA gene.
§ This includes a probe specific for the FKRP L276I mutation. This probe will only generate a signal when the mutation is present.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1408/

Probemix content:
The SALSA MLPA Probemix P116-B2 SGC contains 48 MLPA probes with amplification products between 130 and 492 nt. This includes one probe specific for the FKRP L276I mutation which will only generate a signal when the mutations is present. In addition, nine reference probes are included and detect nine different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This Probemix contains nine quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

SALSA Binning DNA SD030: The SD030 Binning DNA provided with this Probemix can be used as Binning DNA sample for binning of the FKRP L276I mutation-specific probe (FKPR probe 11373-L13479). SD030 Binning DNA is a mixture of genomic DNA from healthy individuals and plasmid DNA that contains the target sequence detected by the above mentioned probe. Inclusion of one reaction with 5 μl SD030 Binning DNA in initial MLPA experiments is essential as it can be used to aid in data binning of the peak pattern using Coffalyser.Net software. Furthermore, Binning DNA should be included in the experiment whenever changes have been applied to the set-up of the capillary electrophoresis device (e.g. when capillaries have been renewed). Binning DNA should never be used as a reference sample in the MLPA data analysis, neither should it be used in quantification of mutation signal, as for this purpose true mutation positive patient samples or cell lines should be used. It is strongly advised to use DNA sample and reference DNA samples extracted with the same method and derived from the same source of tissue. For further details, please consult the SD030 Binning DNA product description provided. This product is for research use only (RUO).


Sample DNA
Sample DNA developed for this product:

Order Items

Probemix

Item no.
Description
Technology
Price
P116-025R
SALSA MLPA Probemix P116 SGC – 25 rxn
€ 243.00
P116-050R
SALSA MLPA Probemix P116 SGC – 50 rxn
€ 486.00
P116-100R
SALSA MLPA Probemix P116 SGC – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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