SALSA MLPA probemixes P385 DOCK8 and P386 DOCK8-STAT3 detect copy number variations in the DOCK8 and STAT3 genes.
Contents: P385 DOCK8 and P386 DOCK8-STAT3 together contain 94 MLPA probes, including 51 probes for DOCK8, and 24 probes for STAT3.
Tissue type: human genomic DNA.
Application: research on hyper-IgE syndrome.
For research use only (RUO). Not for use in diagnostics.
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/.
SALSA MLPA Probemix P385 DOCK8 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
The commercially available positive samples below can be used with the current (A3) version of this product.