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SALSA MLPA KIT P212 DBA
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Diamond-Blackfan anemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. Defects in the RPS19 gene on chromosome 19 are the main known cause of DBA. The protein encoded by this gene is ribosomal protein S19. Defects in the RPS19 gene are detected in only 25% of all patients. The RPS19 gene comprises 6 exons, spanning about 11 kb of genomic DNA. This P212 DBA probemix contains probes for each of the 6 exons. In addition, the P212 probemix contains several probes in the 8p23 region, namely CSMD1, MCPH1, ANGPT2 and AGPAT5. The 8p23.3-8p22 region has been implicated in Diamond-Blackfan anemia but the exact gene has not yet been identified (Gazda, H. et al ; Blood (2001) 97:2145-2150).
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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)
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Last change in probemix content Current lot number
: lot 0906 (September 2006) : lot 0609
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