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SALSA MLPA kit P046 TSC2
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Tuberous sclerosis is a dominantly inherited disease of high penetrance. Well known clinical manifestations include epilepsy, learning difficulties, behavioural problems and skin lesions. In addition, many patients have renal lesions. The majority of cardiac rhabdomyomas are associated with tuberous sclerosis. Approximately 75% of TSC cases are linked to the TSC2 gene on 16p13.3. Most of these (~80%) are de novo mutations (sporadic cases). The remaining 25% of TSC cases are linked to the TSC1 gene on 9q34. Most of these patients (~55%) have affected relatives ("familial" cases). Prevalence is estimated at 1 in approx. 12.000 children under 10 years of age. In addition to point mutations, several deletions involving one or more complete exons in the TSC1 and 2 genes have been described. A deletion of one or more exons of a gene will usually not be detected by techniques like sequencing or DGGE, as a normal copy is also present. FISH is useful in case the complete gene is deleted but is not sensitive enough to detect copy number changes of a single exon. Southern blots will not detect deletions that extend beyond the probe sequence and are difficult to perform quantitatively. Real time PCR is not reproducible enough to reliably detect a 50% decrease in copy number of a small genomic sequence, and cannot be easily used in multiplex format. MLPA is a useful alternative to detect copy number changes of part, or the complete, TSC 1 and 2 genes. The P046 probe mix included in this MLPA kit contains probes for 31 of the 41 exons of the TSC2 gene on 16p13.3, as well as one probe for the PKD1 gene, close to TSC2 and 11 control probes for sequences located on other chromosomes. Among these control probes are two TSC1 probes. For the detection of copy number changes in TSC1 SALSA MLPA P124 TSC1 is available. As reported by Longa. L. et al (2001), Hum. Genet. 108, 156-166, the prevalence of large deletions within TSC1 and TSC2 mut-positive patients is similar (approximately 10% each). This was recently confirmed in a larger series of patients (Nicola Migone, personal communication). 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 0108 (Janurary 2008) Current Lot Number.: Lot 0108
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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