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SALSA MLPA KIT P144/P145 MDS
[http://www.geneclinics.org/profiles/hht/details.html]
Myelodysplastic syndrome (MDS) is a congenital hematopoietic stem cell disease and comprises a collection of hematologic disorders characterized by dysplastic hematopoietic differentiation. It is believed that accumulation of genetic and epigenetic alterations has a role in the development of MDS. Frequently (30% of all cases), MDS progresses to acute myeloid leukemia. The incidence of MDS is approximately 1:20,000 and it is more frequent in persons of 70 years or older. These P144-A1 and P145-A1 MDS probemixes contain probes for chromosomes 5, 7, 8, 11, 12, 17, 20 and 21. Reference probes have been selected in chromosomal regions that appear to be "quiet" in MDS. It is however possible that in some samples these "quiet" regions are also subjected to copy number changes. This SALSA MLPA kit is designed to detect deletions/duplications of several chromosomal regions. 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. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. 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 0208 (February 2008) : lot 0208
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