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SALSA P178 FVIII MLPA KIT
[http://www.geneclinics.org/profiles/hht/details.html]
Defects in the FVIII gene on chromosome Xq28 are the cause of Haemophilia A, a common, recessive, X-linked bleeding disorder. The protein encoded by this gene is coagulation factor VIII. The FVIII gene comprises 26 exons, spanning some 180 kb of genomic DNA (isoform A) on Xq28. Most individuals with FVIII defects have pointmutations or inversions in the FVIII gene, most of which will not be detected by the MLPA technique. However, deletions of part or the complete FVIII gene have also been described and these can be detected by MLPA. This P178 FVIII probemix contains probes for each of the 26 exons. More than one probe is present for exons 1, 7, 12, 14 and 26. This probemix does not contain a probe for exon 22B which is only present in an alternative transcript. This MLPA kit is designed to detect deletions / duplications of one or more exons of the FVIII gene. Deletions of probe recognition sequences in males will be apparent by the absence of the probe amplification product. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected. 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 these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 1106 (October 2006) Current Lot Number.: Lot 0607
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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