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SALSA MLPA KIT P154 SGBS-GPC3/4
[http://www.geneclinics.org/profiles/hht/details.html]
Simpson-Golabi-Behmel syndrome (SGBS, MIM 312870) is an X-linked overgrowth syndrome associated with multiple congenital anomalies caused by a mutant X-linked recessive trait. Alternative names are: BULLDOG SYNDROME; DYSPLASIA GIGANTISM SYNDROME, X-LINKED (DGSX); GOLABI-ROSEN SYNDROME; SIMPSON DYSMORPHIA SYNDROME (SDYS). SGBS shows a broad spectrum of clinical manifestations, varying from mild forms in carrier females to infantile lethal forms in affected males. The most consistent findings in SGBS are pre- and postnatal macrosomia, characteristic a coarse "bulldog-like" face and a complex assortment of congenital defects affecting the internal organs and skeleton. On some occasions, mental retardation of variable degree is observed. SGBS is also associated with an increased risk of developing embryonal neoplasia, mostly Wilms and liver tumours. SGBS is caused by mutations in the glypican 3 (GPC3) gene located on chromosome Xq26. Glypicans (GRIPS) are anchored to the peripheral membrane through glycosylphosphatidylinositol (GPI) linkage. GPC3 contains 8 exons and spans over 500 kb of genomic sequence. The glypicans are a family of cell surface heparan sulfate proteoglycans that are bound to the cell surface and they may play a role in the control of cell division and growth regulation. Deletions in the GPC3 gene have been found in a number of SGBS families supplying evidence that such mutations are responsible for SGBS. Deletion of the glypican 4 (GPC4) gene has been described in one SGBS family. GPC4 contains 9 exons and spans over 134 kb of genomic sequence. GPC4 is located on the Xq26 centromeric to GPC3. The tight clustering of GPC3 and GPC4 may be relevant for explaining the variability of the SGBS phenotype. The probemix included in this kit contains probes for all exons of the GPC3 and GPC4 genes. Because of the large size of the GPC3 gene, two probes were made for each exon of this gene. We also included two probes for GPC4 exon 1. As controls, we selected probes for various genes on the X-chromosome, covering the whole arm of the chromosome. This MLPA kit is designed to detect deletions/duplications of one or more exons of the GPC3 and GPC4 genes. Deletions of probe recognition sequences in males will be apparent by the absence of the probe amplification product. In female heterozygotes, a 35-50% reduced relative peak area of the amplification product of that probe is expected. 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 (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 04; 13-12-2006 Last change in probe mix content: Lot 0806 (August 2006) Current Lot Number.: Lot 0806
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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