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SALSA MLPA KIT P124 TSC1
[http://www.geneclinics.org/profiles/hht/details.html]
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. Besides point mutations, several deletions involving one or more complete exons in the TSC1 and 2 genes have been described. As reported by Longa. L. et al (Hum. Genet. 108, 156-166, 2001), the prevalence of large deletions within TSC1 and TSC2 mutation-positive patients is similar (approximately 10% each). The P124-B1 probemix included in this SALSA MLPA kit contains probes for each exon of the TSC1 gene on 9q34, as well as 12 reference probes for sequences located in other genes. The TSC1 gene spans 52 Kb on chromosome 9q34. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the TSC1 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. 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 0708 (July 2008) Current Lot Number.: Lot 0708
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 2005 -- Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
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