General information
The SALSA MLPA Probemix P388 AGS is a
research use only (RUO) assay for the detection of deletions or duplications in the
TREX1,
RNASEH2B,
RNASEH2C,
RNASEH2A, and
SAMHD1 genes, which are associated with Aicardi-Goutières Syndrome (AGS).
AGS is a genetically determined encephalopathy, characterised by calcification of the basal ganglia and white matter, demyelination and raised levels of lymphocytes in the cerebrospinal fluid. AGS is a heterogeneous disorder. To date mutations in several genes are linked to AGS, including
TREX1,
RNASEH2B,
RNASEH2C,
RNASEH2A, and
SAMHD1. These are known as AGS1, AGS2, AGS3, AGS4 and AGS5, respectively. More recently, two additional genes (
ADAR1 and
IFIH1) have been described in AGS patients. Probes for these genes are not present in this probemix.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1475/.
Probemix content
The SALSA MLPA Probemix P388-A2 AGS contains 48 MLPA probes with amplification products between 130 and 504 nucleotides (nt). This includes 40 probes targeting the aforementioned genes. 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).
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.