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SALSA MLPA kit A071 - A078 DMD Agarose gel
[http://www.dmd.nl/DMD_MLPA.html#agarose]
This MLPA test has been developed to provide an easy to perform method for the detection of deletions of exons of the DMD gene on Xp21.2. The only equipment needed for this test are a thermocycler with heated lid and agarose gel electrophoresis. In case a sequence apparatus with fluorescent detection is available, we recommend the use of the P034-P035 probemixes for DMD. DUCHENNE MUSCULAR DYSTROPHY and BECKER MUSCULAR DYSTROPHY can both be caused by deletions, duplications and point mutations in the DMD gene. Which disease manifests depends on whether the translational reading frame is lost or maintained. Partial gene deletions or duplications in the DMD gene account for ~65% of cases of these dystrophies. This extremely high percentage might be due to the nature of the protein and the extreme length of this gene on the X chromosome (> 2.2 Mb). Deletions can be easily identified by PCR in male patients, as the gene is located on the X chromosome. However, as the number of exons is very large (79), only a subset of these exons is usually screened for deletions. Information on DMD and the various deletions/duplications in this gene can be found on www.dmd.nl/. The DMD A071-A078 kits contains all reagents required for 50 reactions with each of the eight probemixes (400 MLPA reactions; 50 patients). Availability is limited to laboratories that do not have access to fluorescent sequencers in countries with a low average income. One MLPA probe for each of the 79 DMD exons has been made. In addition a probe is present for the alternative exon 1: DP427c. These 80 probes have been divided in eight different probe mixes A071 up to A078. In some probe mixes, one or two control probes for other chromosome X sequences are present in addition to the DMD specific probes. Agarose gel detection of deletions in the DMD gene requires 8 different MLPA reactions for each DNA sample, whereas the use of the P034-P035 probemixes require only two MLPA reactions. In addition, P034/P035 requires the use of capillary sequencers and can detect duplications in both patients and DMD carriers.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0104 Current Lot Number.: Lot 0606
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 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. Poster SHG meeting, Munchen, juni 2004
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