SALSA MLPA P113 FANCB probemix - 100 reactions

application: Fanconi anemia complementation group B
region: FANCB Xp22 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P113-100R

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

Detailní popis SALSA MLPA P113 FANCB probemix - 100 reactions

P113-100R SALSA MLPA P113 FANCB probemix – 100 rxn

Defects in the FANCB gene results in Fanconi anemia, complementation group B. The FANCB (FLJ34064) gene (10 exons), spans ~ 29 kb of genomic DNA and is located on chromosome Xp22, 14.8 Mb from the p-telomere.

The P113-A2 probemix contains one probe for each exon of the gene with the exception of exons 2 and 8. This probemix furthermore contains 6  probes detecting several different autosomal chromosomal locations. In addition, 12 reference probes are included in this probemix, detecting several different locations on the X-chromosome.

This SALSA® MLPA® kit 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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