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SALSA MLPA KIT P158 Juvenile Polyposis (JPS)
Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases. Defects in the BMPR1A gene on chromosome 10q22 and the SMAD4 gene on chromosome 18q21 are the main cause of juvenile polyposis. The BMPR1A gene comprises 13 exons, spanning about 168 kb of genomic DNA en SMAD4 spans 50kb of genomic DNA and comprises of 13 exons. Defects in the PTEN gene on chromosome 10q23 can result in Cowden syndrome which has some phenotypic resemblance to juvenile polyposis. For this reason, probes for PTEN exons are included in this P158 JPS probemix. The PTEN gene comprises 9 exons, spanning about 105 kb of genomic DNA. This P158 JPS probemix contains probes for each of the SMAD4 and PTEN exons and for all but one of the BMPR1A gene. Due to the presence of pseudo genes in the human genome, it was necessary to locate several probes in intron sequences close to the exons. A pseudo gene with identical sequence prevented the development of an exon 7 probe for BMPR1A. This MLPA kit is designed to detect deletions/duplications of one or more exons of the SMAD4, BMPR1A and PTEN 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 1207 (December 2007) Current lot Number.: Lot 1207
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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