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SALSA MLPA KIT P104 MENKES
Copper is an essential trace element that requires tightly regulated homeostatic mechanisms to ensure adequate supplies without any toxic effects because of the ability of the metal ion to catalyze the formation of free radicals. The Cu-ATPases, ATP7A and ATP7B, play an important role in the physiological regulation of copper. Adequate supplies of copper are particularly important in developing animals, and in humans this is illustrated by mutations of ATP7A that cause the copper deficiency condition Menkes disease, which is fatal in early childhood. Menkes Disease is an X-linked recessive disorder characterized by early retardation in growth, peculiar hair, and focal cerebral and cerebellar degeneration (Mercer et al., 2003). The ATP7A gene has 23 exons, spans 135 Kb of chromosomal sequence and is located on chromosome Xq13.3. A high percentage (15%) of gross deletions in the ATP7A gene of patients affected with Menkes disease has been reported. The P104 probemix included in this kit contains probes for 22 of the 23 exons. As a control, 13 probes for other human genes located on different chromosomes are included. Two probes for exon 1 are included due to the size of intron 1 (60 kB). No probe is present for exon 23.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 05; 13-12-2006 Last change in probe mix content: Lot 1006 (October 2006) Current Lot Number.: Lot 1006
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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