SALSA MLPA P232 FGD1 probemix - 100 reactions

application: Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome
region: FGD1 Xp11.21 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P232-100R

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

Detailní popis SALSA MLPA P232 FGD1 probemix - 100 reactions

P232-025R SALSA MLPA P232 FGD1 probemix – 100 rxn

description
FGD1 has been found to be responsible for faciogenital dysplasia (FGDY, Aarskog-Scott syndrome), an X-linked skeletal dysplasia, first described in 1970. Mutations in the FGDY locus alter the size and shape of small bones and cartilage elements, but leave other skeletal structures unaffected. Features of this disease include widely spaced eyes, ptosis, dysplastic ears, maxillary hypoplasia, retarded bone maturation and a variety of vertebral anomalies including cervical spina bifida. These observations suggest that FGD1 acts on a limited number of mesenchymal condensations during skeletogenesis. Most individuals with Aarskog-Scott syndrome have point mutations in the FGD1 gene, most of which will not be detected by the MLPA technique. However, deletion of part or the complete FGD1 gene has also been described.

The FGD1 gene (18 exons), spans ~51 kb of genomic DNA and is located on chromosome Xp11.21, ~54.5 Mb from the p-telomere. The P232-C1 probemix contains probes for each of the 18 exons (2 probes for exon 1) of FGD1. In addition, it contains one probe in the Xp11 region and 9 reference probes detecting several different locations on chromosome X.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned FGD1 gene 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 area. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, 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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