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SALSA MLPA KIT P207 F9
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Factor IX Deficiency or Christmas disease (Plasma Thromboplastic Component deficiency) is the result of a hereditary defect in factor IX (Blackburn et al. (1962). Factor IX on chromosome Xq27.1 responsible for hemophilia B is not allelic and consist of two polypeptide chains referred to as the L (light) and H (heavy) chains. Thus, two nonallelic forms of hemophilia B or factor IX deficiency may exist. Factor IX circulates as an inactive zymogen until proteolytic release of its 'activation peptide' allows it to assume the conformation of an active serine protease (Davie and Fujikawa, 1975). Its role in the blood coagulation cascade is to activate factor X through interactions with calcium, membrane phospholipids, and factor VIII. This P207 F9 probe mix contains probes for 8 exons of the F9 gene, spanning about 30 kb of genomic DNA. Two probes are present for exon 1 and exon 8. Furthermore, 5 probes for Factor VIII are included. This MLPA kit is designed to detect deletions/duplications of one or more exons of the F9 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 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 0806 (August 2006) Current Lot Number.: Lot 0806
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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