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SALSA MLPA KIT P065/P066 MARFAN
One Salsa P065-P066 Marfan kit contains reagents + probemixes for 50 MLPA reactions each with the P065 and P066 probemixes. Kits with 100 reactions of either the P065 or P066 probemix are also available upon request. MARFAN SYNDROME (MIM154700) is a heritable disorder of fibrous connective tissue. The major cause of Marfan syndrome is a defect in the FBN1 gene on chromosome 15q21.1 that codes for the fibrillin protein. Clinical presentation of fibrillinopathies caused by FBN1 mutations ranged from isolated ectopia lentis to neonatal Marfan syndrome, which generally leads to death within the first 2 years of life. The FBN1 gene has 65 exons and spans 233 kb of genomic DNA. The large size of the FBN1 gene often precludes routine mutation screening. Perturbation of TGF-beta signaling also contributes to the pathogenesis of extracellular matrix disorders. Heterozygous mutations in the transforming growth factor-beta receptor II (TGFBR2) are found to cause Marfan syndrome (Mizuguchi et al. Nature Genet. 36: 855-860, 2004). TGRBR2, a putative tumor suppressor gene, is located on chromosome 3p22, has 7 exons and spans 85 kb of genomic DNA. We included probes for each TGFBR2 exon in the P065 probemix. We have no information yet whether or not deletions / duplications in this gene are indeed a cause of Marfan syndrome. The probe mixes included in this MLPA kit contain probes for 53 of the 65 FBN1 exons and all 7 TGFBR2 exons. Two probes are present for the FBN1 exons 1 and 6. For some FBN1 probes that are located very close to other exons, no probe has been made. As a control, several probes for other human genes are included in each probemix.
Full mix description (pdf)
Last change in probe mix content: P065: Lot 0807 / P066: Lot 0904 (September 2004) Current Lot Number.: P065: Lot 0807 / P066: Lot 0207
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 2007 -- Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
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