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SALSA MLPA KIT P313 CREBBP
[http://www.geneclinics.org/profiles/hht/details.html]
The Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a well-defined multiple congenital anomalies - mental retardation syndrome characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation. It occurs generally sporadic, and can be caused by a microdeletion of chromosome 16p13.3, or by a mutation in either CREB-binding protein (CREBBP) or the E1A-binding protein (p300). Birth prevalence is one in 100 000-125 000. The CREBBP gene comprises 31 exons, spanning about 155 kb of genomic DNA and is located on 16p13.3 (3.8Mb from p-telomere). EP300 also contains 31 exons, spans 87 kb and is located on 22q13.2 (39.8Mb from p-telomere). Most individuals with RSTS have point mutations in the CREBBP or the EP300 gene, most of which will not be detected by the MLPA technique. Deletions and duplications of part, or the complete, CREBBP gene have also been described (Roelfsema JH et al. 2005, Am. J. Hum. Genet. 76, 572-580). Please note that the P313 probemix is different from the probemix that was used by Roelfsema et al. This P313-A1 CREBBP probemix contains probes for each of the 31 exons of CREBBP (two probes for exons 1, 2 and 3). In addition, it contains three probes for EP300 (exons 1, 4, 12). This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the CREBBP and EP300 genes 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 0108 (January 2008) : lot 0708
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