General information
The SALSA MLPA Probemix P268 DYSF is a
research use only (RUO) assay for the detection of deletions or duplications in the DYSF gene, which is associated with limb-girdle muscular
dystrophy type 2B (LGMD2B).
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 LGMD2B or dysferlinopathy. 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.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1303/.
Probemix content
The SALSA MLPA Probemix P268-A3 DYSF contains 48 MLPA probes with amplification products between 130 and 481 nucleotides (nt). This includes 40 probes for the
DYSF gene targeting 40 out of 58 exons present in the LRG sequence. In addition, eight 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.mlpa.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, 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).