Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P154 GPC3 GPC4 probemix - 50 reactions

SALSA MLPA P154 GPC3 GPC4 probemix - 50 reactions

SALSA MLPA P154 GPC3 GPC4 probemix - 50 reactions

application: Simpson-Golabi-Behmel syndrome (SGBS)
region: GPC3, GPC4, Xq26 Detailní informace

Cena s DPH € 588.06
Cena bez DPH € 486.00
 50 react
Dostupnost Skladem
Kód produktu P154-050R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P154 GPC3 GPC4 probemix - 50 reactions

P154-050R SALSA MLPA P154 GPC3-GPC4 probemix – 50 rxn

Simpson-Golabi-Behmel syndrome (SGBS) 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 dysmorhia 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 are pre- and postnatal macrosomia, characteristic 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) and glypican 4  (GPC4) genes, both located on chromosome Xq26. The glypicans (GRIPS) 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. Glypicans are anchored to the peripheral membrane through glycosylphosphatidylinositol (GPI) linkage. Deletions in the GPC3 gene have been found in a number of SGBS families supplying evidence that such mutations are responsible for SGBS. Duplication of the glypican 4 (GPC4) gene has been described in one SGBS family (Waterson, 2010). The tight clustering of GPC3 and GPC4 may be relevant for explaining the variability of the SGBS phenotype.

The GPC3 gene (8 exons) spans ~ 449 kb of genomic DNA and is located on chromosome Xq26.2. The GPC4 gene (9 exons) spans ~ 114 kb of genomic DNA and is located on the Xq26.2 chromosome, centromeric to GPC3. The P154-C1 probemix contains two probes for each exon of the GPC3 gene (three probes for GPC3 exon 1 and one for exon 5) and one probe for each exon of the GPC4 gene (two probes for GPC4 exon 1). In addition, 9  reference probes are included in this probemix, detecting several other genes on the X-chromosome.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Deletions of a probe’s recognition sequence on the X-chromosome will lead to a complete absence of the corresponding probe amplification product in males, whereas female heterozygotes are recognisable by a 35 50% reduction in relative peak height. Note that a  mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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