General information: The SALSA MLPA
Probemix P210-B1 BTK is a
research use only (RUO) assay for the detection of deletions or duplications in the
BTK gene, which is associated with Agammaglobulinemia.
Bruton’s tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and is essential both for B cell development and function of mature B cells.
The
BTK gene (19 exons), spans ~37 kb of genomic DNA and is located on chromosome Xq22.1, ~101 Mb from the p telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1453/.
This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content: The SALSA MLPA Probemix P210-B1 BTK contains 29 MLPA probes with amplification products between 130 and 391 nucleotides (nt). This includes one probe for each exon of the
BTK gene. Furthermore, this probemix contains probes for
GLA and
RPL36A, located approximately 15 kb upstream of BTK on Xq22.1. In addition, eight reference probes are included that detect other locations on the X-chromosome. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mlpa.com).
This probemix contains ten quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and two chromosome Y-specific fragments. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mlpa.com.