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SALSA MLPA KIT P034 / P035 DMD / Becker
DUCHENNE MUSCULAR DYSTROPHY and BECKER MUSCULAR DYSTROPHY can be caused by deletions, duplications or point mutations in the DMD gene that encodes dystrophin. Information on DMD and the various deletions/duplications in this gene can be found on www.dmd.nl. In which extend DMD manifests depends on whether the translational reading frame is lost or maintained. Partial gene deletions or duplications in the DMD gene accounts for as much as ~65% of cases of these dystrophies. This extremely high percentage may be due to the nature of the protein and the gene's extreme length (> 2.2 Mb). This P034/P035 DMD probemix contains probes for each of the exons of the DMD gene on Xp21.2 chromosome. In addition, one probe is present for the alternative exon 1 DP427c. These 80 probes have been divided in two probe mixes: P034 and P035. Performing two MLPA reactions is thus sufficient to investigate the copy number of all exons. Since MLPA offers a more extensive screening than many other methods used in DMD analysis, you may find deletions/duplications that were previously overlooked. For instance, we have been notified by one customer that among 33 samples that were initially found to be normal using the widely used deletion multiplex test, 6 samples were actually found to be positive with MLPA (18.1%); 4 of these were duplications and the other 2 had deletions which are not covered by the multiplex PCR test. Schwartz, M et al (2007; Hum. Mutat. 28, 205) have reported a completely healthy male with a deletion of exon 16 and part of introns 15 and 16. Their findings suggest that even large gene re-arrangements of the dystrophin gene may not always be disease-causing. Please be caution with the diagnosis of dystrophinopathy in sporadic cases of single exon in-frame deletions. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the DMD gene. Deletions of probe recognition sequences in males will be apparent by the absence of the probe amplification product. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected. 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.
Full mix description (pdf)
Last change in probe mix content: Lot 0508 Current Lot Number.: Lot 0508
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)
[http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17124406&query_hl=1&itool=pubmed_docsum]
References 2006 -- Copy number variation in the genome; the human DMD gene as an example. 2006-- Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA). 2005-- Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet. Jun;117(1):92-98. Epub 2005 Apr 20. 2005-- Deletion and duplication screening in the DMD gene using MLPA. 2005-- Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy. 2005-- MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. 2004-- Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.
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