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SALSA MLPA KIT P160 STS
Defects in the Steroid Sulfatase gene (STS) on chromosome Xp22 are the cause of X-linked ichthyosis or placental steroid sulfatase deficiency. The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The STS gene comprises 10 exons, spanning some 135 kb of genomic DNA. Most individuals (85-90%) with X-linked ichthyosis have extensive deletions of the STS gene. Pointmutations however have also been described. The percentage of gene defects due to deletions in the STS gene is among the highest of all genetic diseases. Most patients have a deletion of the complete gene but partial gene deletions have also been described. This P160 STS probemix contains probes for each of the 10 exons as well as many other probes in the Xp22 region, including probes for the KAL1 gene involved in Kallmann syndrome and the NLGN4X gene that might be involved in X-linked autism. Please note that a probemix for the nearby KAL1 gene involved in Kallmann syndrome is in preparation. 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. Please note that mutations very close to the probe ligation site may also result in a reduced relative area. Apparent deletions of a single probe recognition site will therefore require confirmation by other methods.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 01; 07-02-2006 Last change in probe mix content: Lot 0206 (February 2006) Current Lot Number.: Lot 0206
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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