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SALSA P170B APP MLPA KIT
[http://www.geneclinics.org/profiles/hht/details.html]
Duplications in the APP gene results in accumulation of amyloid-beta peptides in the parenchymal and vascular deposits and has been implicated in early-onset Alzheimer disease and cerebral amyloid angiopathy. The APP gene consists of 19 exons and spans more than 170 kb of genomic DNA on chromosome 21q21.3. Rovelet-Lecrux et al. (Nat Genet. 2006 Jan;38(1):24-6) reported duplications of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides. Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA. Theuns et al. (Am J Hum Genet. 2006 Jun;78(6):936-46) systematically sequenced the proximal promoter of APP and identified three mutations (-118C-->A, -369C-->G, and -534G-->A) in patients with AD only. In vivo experiments showed a nearly twofold neuron-specific increase in APP transcriptional activity, similar to what is expected from triplication of APP in Down syndrome. These mutations either abolished (AP-2 and HES-1) or created (Oct1) transcription-factor binding sites involved in the development and differentiation of neuronal systems. Also, two of these clustered in the 200-bp region (-540/-340) of the APP promoter that showed the highest degree of species conservation. This mix contains two mutation specific MLPA probes for the -369C-->G, and -534G-->A and these probes will only generate a signal when the mutation is present. This probe mix contains 14 MLPA probes specific for different sequences of the APP locus. Two of these are mutation specific MLPA probes and will only generate a signal when the specific mutation is present. For identification of regional duplications 5 MLPA probes located in the region reported by Rovelet-Lecrux et al are included. In addition, 18 additional MLPA probes specific for different chromosomes are included for copy number quantification. Three of these copy number control probes are located on chromosome 21 but outside the APP region. A list of all probes included in this mix can be found on page 3.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0107 (March 2006) Current Lot Number.: Lot 0107
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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