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SALSA MLPA KIT P101 STK11
PEUTZ-JEGHERS SYNDROME (PJS) is an autosomal dominant disorder, characterized by melanocytic macules of the lip, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms. PJS is caused by defects in the STK11 (=LKB1) gene. The STK11 (LKB1) gene has 10 exons, spans 21 Kb of chromosomal sequence and is located on chromosome 19p13.3. Defects of the STK11 gene are the cause of Peutz-Jeghers syndrome (PJS). This MLPA kit is designed to detect deletions/duplications of one or more exons of the STK11 gene. 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. Please note that exon 10 is located entirely in the 3' untranslated region. Many publications will mention that STK11 has only 9 exons.
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 2006 -- An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. 2006 -- LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. 2006 -- Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. 2005 -- High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
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