SALSA MLPA P178 F8 probemix - 100 reactions

SALSA MLPA P178 F8 probemix - 100 reactions

application: Haemophilia A, x-linked
region: F8 gene, Xq28 Detailní informace

Cena s DPH € 1 176.12
Cena bez DPH € 972.00
 100 react
Dostupnost Skladem
Kód produktu P178-100R

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

Detailní popis SALSA MLPA P178 F8 probemix - 100 reactions

P178-100R SALSA MLPA P178 F8 probemix – 100 rxn

Defects in the FVIII gene on chromosome Xq28 are the cause of Haemophilia A, a  common recessive, X-linked bleeding disorder. The protein encoded by this gene is coagulation factor VIII.

The FVIII gene comprises 26 exons, spanning some 180 kb of genomic DNA (isoform A) on Xq28. Most individuals with FVIII defects have point mutations or inversions in the FVIII gene, most of which will not be detected by the MLPA technique. However, deletions of part or the complete FVIII gene have also been described and these can be detected by MLPA.

This P178 FVIII probemix contains probes for each of the 26 exons. More than one probe is present for exons 1, 7, 12, 14 and 26. This probemix does not contain a probe for exon 22B which is only present in an alternative transcript.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned 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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