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SALSA MLPA KIT P130 & P131 CCM
The P130 / P131 CCM probemixes can be used to detect copy number changes of most exons of the CCM1, CCM2 and CCM3 genes. CEREBRAL CARVERNOUS MALFORMATIONS (CCM) are vascular malformations, mostly located in the central nervous system, which occur in 0.1-0.5% of the population. They are characterized by abnormally enlarged and often leaking capillary cavities without intervening neural parenchyma. Some are clinically silent, whereas others cause seizures, intracerebral haemorrhage or focal neurological deficits. These vascular malformations can arise sporadically or may be inherited as an autosomal dominant condition with incomplete penetrance. Three loci are associated with autosomal dominant CCM, and the causative genes have been identified for CCM1 and CCM2. The recent implication of the PDCD10 (CCM3) gene in cerebral cavernous malformations strongly suggested that it is a new player in vascular morphogenesis and/or remodeling. In this probemix description the PDCD10 gene is called CCM3. The CCM1 gene is located on chromosome 7q21 and has 19 exons, spanning 47 kb. The CCM2 gene has 10 exons and spans 76 kb of chromosomal sequence on chromosome 7p13. The CCM3 (PDCD10) gene spans 51 kb, has 9 exons and is located at 3q26.1. The P130 probe mix contains at this moment probes for 8 of the 19 exons of CCM1 gene and for all 10 exons of the CCM2 gene (2 probes for exon 2), as well as one probe located 0,7 kb upstream from CCM2. As a control, 19 probes for other human genes located on different chromosomes are included. The P131 probe mix contains at this moment probes for 9 of the 19 exons of CCM1 gene and for 8 of the 9 exons of CCM3 gene (2 probes for exon 1). As a control, 18 probes for other human genes located on different chromosomes are included. No probe are available yet for exons 3 and 7 of CCM1 gene and for exon 8 of the CCM3 gene which are in close proximity to neighbouring exons.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: P130 lot 0407; P131 lot 0507 Current Lot Number.: P130 lot 0407; P131 lot 0507
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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