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SALSA P048 LMNA MLPA KIT
Laminopathies has emerged as clinically heterogeneous genetic disorders due to mutations in lamins or lamin-associated proteins. Lamins are structural protein components of the nuclear lamina, a protein network underlying the inner nuclear membrane that determines nuclear shape and size. The lamins constitute a class of intermediate filaments. Three types of lamins, A, B, and C, have been described in mammalian cells. Laminopathies regroup at least eight distinct diseases, belonging to the groups of skeletal and/or cardiac muscular dystrophies, axonal neuropathies, premature ageing syndromes and familial lipodystrophies, all resulting from alterations in LMNA, encoding type A-lamins, such as Emery Dreifuss and Gilford progeria or progeroi syndromes. Pathophysiological mechanisms explaining how mutations in an unique gene could lead to such various phenotypes are still unknown, but probably involve alterations in cellular mechanical stress responses, in gene expression, and/or in post-translational maturation of lamin A. The probemix included in this kit contains probes for 10 of the 12 coding exons of the LMNA gene located on Chromosome 1q21.2-q21.3. Due to the close proximity of exons 4 and 5 (0.2 kb) and exons 8 and 9 (0.1 kb) no probes have been made for exons 5 and 9. As a control, 13 probes for other human genes located on different chromosomes are included, three of which recognize genes located on chromosome 1. One of these three chr. 1 probes (SSR2-D01) is located approximately 94 kb upstream of exon 1. Another probe (BGLAP-D01) is located approximately 100 kb downstream exon 12 of the LMNA gene.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0106 (January 2006) Current Lot Number.: Lot 1106
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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