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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 Distance from p-telomere LGMD type
SGCA 10 exons 11¬ 9.9 kb 17q21 ~46 Mb LGMD2D
SGCB 6 exons 6 17.6 kb 4q12 ~52 Mb LGMD2E
SGCD 9 exons 9 441.0 kb 5q33 ~156 Mb LGMD2F
SGCG 8 exons 8 144.2 kb 13q12 ~23 Mb LGMD2C
FKRP 4 exons 5§ 12.5 kb 19q13 ~52 Mb 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/.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P116-B2 SGC contains 48 MLPA probes with amplification products between 130 and 492 nucleotides (nt). This includes ten probes for the SGCA gene (one for each exon), one flanking probe downstream of SGCA, six probes for the SGCB gene (one for each exon), nine probes for the SGCD gene (one for each exon), eight probes for the SGCG gene (one for each exon) and four probes for the FKRP gene (one for each exon). Furthermore, this probemix contains a probe specific for the FKRP L276I mutation which will only generate a signal when the mutation is present. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 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.mrcholland.com.

SALSA Binning DNA SD030
The SD030 Binning DNA provided with this probemix can be used for binning of all probes including the mutation-specific probe 11373-L13479 (FKRP L276I mutation). 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(s). It is strongly advised that all samples tested are extracted with the same method and derived from the same source of tissue. For further details, please consult the SD030 Binning DNA product description, available online: www.mrcholland.com. 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
€ 281.00
P116-050R
SALSA MLPA Probemix P116 SGC – 50 rxn
€ 550.00
P116-100R
SALSA MLPA Probemix P116 SGC – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6037.00

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