SALSA MLPA P210 BTK probemiximproved

application: Agammaglobulinemia
region: BTK Xq21.3-q22
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version: B1
sold since: 2017-05-31

item no. description price
P210-025R SALSA MLPA P210 BTK probemix – 25 rxn € 237
P210-050R SALSA MLPA P210 BTK probemix – 50 rxn € 474
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
Agammaglobulinemia is an X-linked immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. Patients are unusually prone to bacterial infection but not to viral infection presumably because cell-mediated immunity is intact. Affected individuals frequently present clinical symptoms very similar to rheumatoid arthritis. The defect in this disorder resides in the bruton agammaglobulinemia tyrosine kinase (BTK) gene on chromosome X.

The BTK gene comprises 19 exons, spans about 37 kb of genomic DNA and is located on Xq22.1, 101 Mb from the p-telomere. Agammaglobulinemia is most frequently caused by point mutations in the BTK gene that are not detected by this MLPA. However, several exon deletions in the BTK gene have also been described. The P210-B1 probemix contains one probe for each exon of the BTK gene.

This probemix furthermore contains probes for GLA and RPL36A, located approximately 15 kb upstream of BTK on Xq22.1. In addition, eight reference probes are included in this probemix.

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 recognizable 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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product history
version B1: Six target probes, one flanking and seven reference probes have been replaced, one flanking probe has been removed and several probes have been adjusted in length.
version A3: 292 nt flanking probe has been removed
version A2: The 88, 96, 100 and 105 nt control fragments have been included and the 106 nt NPK0001 probe has been removed.

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