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SALSA MLPA KIT P292 PCDH15
[http://www.geneclinics.org/profiles/hht/details.html]
Usher syndrome is a recessively inherited disorder which is genetically heterogeneous. There are seven USH1 loci, two of which are mapped to chromosome 10: USH1D and USH1F. Mutations in CDH23 (cadherin 23) and PCDH15 (protocadherin-15) are associated with USHER syndrome type 1F. Usher syndrome type I is an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa and constant vestibular dysfunction. Type 1 is distinguished from type II on the basis of the severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, howevers type II patients are are "hard of hearing". Vestibular function is defective in type I patients, however type II patients have normal vestibular function. The PCDH15 gene is a member of the cadherin superfamily. Cadherin genes encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The PCDH15 gene comprises 32 exons, spanning about 1000 kb of genomic DNA and is mapped on chromosome 10q21.1. This P292-A1 PCDH15 probemix contains probes for each of the 32 PCDH15 exons (two probes each for exon 1 and 2). In addition, this probemix includes 8 reference probes that detect sequences on autosomal chromosomes. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the PCDH15 gene. Heterozygote deletions of probe recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations and/or polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Therefore, apparent deletions detected by a single probe 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)
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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Last change in probemix content Current lot number
: lot 0508 (May 2008) : lot 0508
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