General information
The SALSA MLPA
Probemix P117 ABCC8 is a
research use only (RUO) assay for the detection of deletions or duplications in the
ABCC8 gene, which is associated with familial hyperinsulinemic hypoglycemia 1.
Familial hyperinsulinemic hypoglycemia 1 (HHF1) is familial hyperinsulinism caused by mutations in the gene encoding the SUR1 subunit of the pancreatic beta cell inwardly rectifying potassium channel (
ABCC8). Familial hyperinsulinism causes low blood glucose concentrations in infancy due to unregulated insulin release.
Mutations can be divided into two classes. Class I mutations result in the absence of the protein at the surface of the cell membrane and class II mutations cause an always closed channel at the surface of the cell membrane. The latter class gives a less severe phenotype than the former class (Flanagan et al. 2009). ATP-binding cassette, subfamily C, member 8 (ABCC8), together with the pore-forming KCNJ11, forms the pancreatic subtype of K
ATP channels. ATP-sensitive potassium channels (K
ATP) link membrane potential to cellular metabolism like insulin secretion and neurotransmitter release, by regulating the flux of potassium ions across the cell membrane. They are located in pancreas, heart and vascular smooth muscle tissue.
The
ABCC8 gene (39 exons) spans ~84 kb of genomic DNA and is located on chromosome 11p15.1, ~17 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1375/.
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 P117-C3 ABCC8 contains 49 MLPA probes with amplification products between 131 and 490 nucleotides (nt). This includes 39 probes for the gene
ABCC8, one for each exon. In addition, 10 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).
This probemix contains 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.