SALSA MLPA P113 FANCB probemix

application: Fanconi anemia complementation group B
region: FANCB Xp22
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version: B1

item no. description price
P113-025R SALSA MLPA P113 FANCB probemix – 25 rxn € 237
P113-050R SALSA MLPA P113 FANCB probemix – 50 rxn € 474
P113-100R SALSA MLPA P113 FANCB probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
The FANCB gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability (https://www.ncbi.nlm.nih.gov/gene/2187).

The FANCB gene (10 exons), spans ~29.7 kb of genomic DNA and is located on chromosome Xp22.2, ~14.8 Mb from the p telomere.

The P113-B1 probemix contains one probe for each exon of the FANCB gene, with one additional probe for exon 3, 8 and 10. Furthermore, two probes upstream of exon 1 and one probe downstream of exon 10 are included. In addition, 9 reference probes are included in this probemix, detecting several different locations on the X chromosome.

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 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 this gene 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.

related products
SALSA MLPA P031 FANCA mix 1 probemix
Fanconi Anemia group A – genes included: FANCA.
SALSA MLPA P032 FANCA mix 2 probemix
Fanconi Anemia group A – genes included: FANCA.
SALSA MLPA P057 FANCD2-PALB2 probemix
Fanconi Anemia – genes included: FANCD2, PALB2.
SALSA MLPA P260 PALB2-RAD50-RAD51C-RAD51D probemix
Fanconi anemia – genes included: PALB2-RAD50-RAD51C-RAD51D.

product history
version B1: Six additional FANCB probes have been included and five replaced, eight reference probes have been replaced and two removed. Furthermore, all autosomal probes have been removed and six probe lengths have been adjusted.
version A2: The 88, 96, 100 and 105 nt control fragments (QDX2) have been included; 108 Y specific probe has been removed.

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