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SALSA MLPA KIT P268 DYSF
[http://www.geneclinics.org/profiles/hht/details.html]
Limb girdle muscular dystrophies (LGMD) are a group of phenotypically and genotypically heterogeneous diseases, characterized by progressive weakness and atrophy of the muscles of the pelvic and shoulder girdle. Mutations of the Dysferlin gene (DYSF) have been associated with limb-girdle muscular dystrophy type 2B (LGMD2B). Patients with LGMD2B have symmetrical and selective involvement of proximal limb-girdle muscles. The disease shows wide intrafamilial 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 55 exons, spans about 233 kb of genomic DNA and is located at chromosome 2p13, approximately 71 Mb from p-telomere. The database of genome variants mentions no copy number changes of this genomic region in healthy individuals (see http://projects.tcag.ca/variation/). This P268-A1 DYSF probemix contains probes for most exons. In addition, 7 reference probe located on other chromosome are included. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the DYSF gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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Last change in probemix content Current lot number
: lot 0608 (June 2008) : lot 0608
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