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SALSA MLPA KIT P296 aHUS
[http://www.geneclinics.org/profiles/hht/details.html]
Typical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of the cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. aHUS can be caused by mutations in the following genes: complement factor H (CFH), membrane cofactor protein (MCP / CD46), or complement factor I (CFI). This P296-A1 aHUS probemix contains probes for each of the 11 CFI exons and all but one of the 14 MCP exons. In addition, it contains several reference probes on other autosomal chromosomes. The CFI gene comprises 11 exons, spanning about 62 kb of genomic DNA on chromosome 4q25. The MCP gene comprises 14 exons, spanning about 43 kb of genomic DNA on chromosome 1q32.2. The database of genome variants mentions several copy number changes of this genomic region in healthy individuals. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the MCP and CFI genes. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test. SALSA® 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.
Full mix description (pdf)
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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Last change in probemix content Current lot number
: lot 0208 (February 2008) : lot 0208
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