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SALSA MLPA KIT P215 EXT
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Multiple osteochondromas, also known as hereditary multiple exostoses, is an autosomal dominant condition, caused by mutations in either EXT1 or the EXT2 gene. The EXT1 gene comprises 11 exons, spanning about 312 kb of genomic DNA on chromosome 8q24. EXT2 located at 11p11.2, spans 150 kb of genomic DNA and has 16 exons. This P215 EXT probemix contains probes for each of the EXT1 and EXT2 exons. In addition, it contains several control probes on different chromosomes. Control probes have been selected from "quiet regions" in osteochondromas. The Langer-Giedion region probemix with more probes in the 8q24 EXT1 region, will soon be available.
Full mix description (word)
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)
[http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17341731&query_hl=0&itool=pubmed_docsum]
[http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17301954&query_hl=0&itool=pubmed_docsum]
References 2007 -- The role of EXT1 in nonhereditary osteochondroma: identification of homozygous deletions. 2007 -- A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer.
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Last change in probemix content Current lot number
: lot 0207 (January 2007) : lot 0207
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