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SALSA P186 PAX3 MLPA KIT
[http://www.geneclinics.org/profiles/hht/details.html]
Mutations in the MITF and PAX3 genes, encoding transcriptions factors, are responsible for Waardenburg syndrome (WS) type II and WS1/WS3 respectively. MITF transactivates the gene for tyrosinase, a key enzyme for melanogenesis, and is critically involved in melanocyte differentiation. Absence of melanocytes affects pigmentation in the skin, hair, and eyes, and hearing function in the cochlea. Therefore, hypopigmentation and hearing loss in WS2 are likely to be the results of an anomaly of melanocyte differentiation caused by MITF mutations. PAX3 regulates MITF, and failure of this regulation due to PAX3 mutations results in the auditory-pigmentary symptoms in at least some individuals with WS1. The PAX3 gene has 9 exons, spanning approximately 100 Kb of genomic sequence. The MITF gene has 10 exons, spanning approximately 225 kb of genomic sequence. This PAX3 kit contains MLPA probes for all 9 PAX3 exons. Two probes are present for exon 1, 4, 5, 6, 7 8 and 9 sequences. Probes for 5 of the 10 MITF exons are present in this P186 kit. This MLPA kit is designed to detect deletions/duplications of one or more exons of the genes. 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 (pdf)
Last change in probe mix content: Lot 0508 (May 2008) Current Lot Number.: Lot 0508
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 2007 - The value of MLPA in Waardenburg Syndrome.
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