General information
The SALSA MLPA
Probemixes P385 DOCK8 and P386 DOCK8-STAT3 are
research use only (RUO) assays for the detection of deletions or duplications in the
DOCK8 and
STAT3 genes, which are associated with Hyper-IgE syndrome.
Hyper-IgE syndrome (HIES) is a rare immunodeficiency disease, often accompanied by high serum IgE. It is often characterized by facial features, repeated skin infections, eczema and pulmonary infection, including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). AD-HIES is caused by mutations in the
STAT3 gene. AR-HIES is mainly caused by mutations in the
DOCK8 gene.
The
DOCK8 gene (48 exons) spans ~192 kb of genomic DNA and is located on chromosome 9p24.3, 0.2 Mb from the p-telomere. The
STAT3 gene (24 exons) spans ~75 kb of genomic DNA and is located on chromosome 17q21.2, 38 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK25507/.
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 P385-A3 DOCK8 contains 48 MLPA probes with amplification products between 130 and 490 nucleotides (nt). This includes 38 probes for the
DOCK8 gene and one flanking probe detecting the
DMRT1 gene. In addition, nine reference probes are included that detect autosomal chromosomal locations.
The SALSA MLPA Probemix P386-A4 DOCK8-STAT3 contains 46 MLPA probes with amplification products between 131 and 493 nucleotides (nt). This includes 13 probes for the
DOCK8 gene, 24 probes for the
STAT3 gene and one flanking probe detecting the
DMRT1 gene. In addition, eight reference probes are included that detect autosomal chromosomal locations.
Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
These probemixes contain nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.