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SALSA MLPA KIT P214 Col2A1
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Defects in the Col2A1 gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I and spondyloepimetaphyseal dysplasia Strudwick type. The Col2A1 gene encodes for the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. It comprises of 54 exons, spanning about 30 kb of genomic DNA on chromosome 12q13.11. This MLPA probemix contains 21 probes for Col2A1 exons. In view of the short distance between most exons, probes have been made for only 20 of the 54 exons. This MLPA kit is designed to detect deletions/duplications of one or more exons of the Col2A1 gene. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore 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 this gene are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
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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 1206 (December 2006) : lot 1206
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