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SALSA MLPA KIT P164 IDS
Defects in the Iduronate 2-sulfatase gene (IDS) on chromosome Xq28 are the cause of mucopolysaccharidosis type II, or Hunter syndrome. The IDS gene comprises 9 exons, spanning some 24 kb of genomic DNA. Most individuals with Hunter syndrome have point mutations in the IDS gene, most of which will not be detected by the MLPA technique. Deletions of part or the complete IDS gene are estimated to be the cause of disease in 20% of all cases. Patients with full deletions or gross rearrangements of the IDS gene have in general a severe clinical presentation. A pseudogene of IDS (IDSP1) is located at short distance of the real gene. A recombination event between the IDS gene and the IDSP1 pseudogene is the cause of disease in an estimated 13% of the Hunter syndrome patients. In most patients this recombination results in an inversion. It is probably not possible to detect most inversions by means of this MLPA assay. This P164 IDS probe mix contains 12 probes for the IDS gene as well as several other probes in the IDS region, including probes for the IDSP1 pseudogene and the FMR2 gene.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 1106 (November 2006) Current Lot Number.: Lot 1106
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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