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SALSA MLPA KIT P153 EYA1
Defects in the EYA1 gene are the cause of the branchio-oto-renal dysplasia syndrome (BOR). BOR syndrome is transmitted as an autosomal dominant disorder, and affects an estimated 2% of profoundly deaf children. Besides deafness, BOR syndrome is characterized by renal abnormalities and head and neck abnormalities. The EYA1 gene spans 160 Kb of DNA on chromosome 8q13.3. Complex genomic rearrangements account for a considerable fraction of all identified mutations in EYA1 (Chang et al. 2004; Human mutation 23: 582-589; Vervoort VS, Smith RJH et al, 2002, Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Europ. J. Hum. Genet. 10:757-766). Alternative splicing of the primary transcript results in four transcript variants consisting of 17 or 18 exons, and expressing three different isoforms. This P153 EYA1 probemix contains 20 different EYA1 probes as well as 11 control probes in other genes. No probes are present yet for three exons that are quite close to other exons (< 1 Kb). For several exons two different probes are present. This MLPA kit is designed to detect deletions/duplications of one or more exons of the EYA1 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 0106 (January 2006) Current Lot Number.: Lot 1206
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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