General information: The SALSA MLPA
Probemix P441 SACS is a
research use only (RUO) assay for the detection of deletions or duplications in the
SACS gene, which is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
ARSACS is a neurodegenerative disorder, characterised by early-onset progressive cerebellar ataxia with spasticity and peripheral neuropathy. The classic form of ARSACS is often displayed in early childhood, leading to delayed walking in young toddlers, while individuals with disease onset in teenage or early-adult years are also being described more recently. ARSACS is caused by mutations in the
SACS gene, which encodes the sacsin protein believed to integrate the ubiquitin-proteasome system and Hsp70 chaperone machinery and implicated in the processing of ataxin-1. Sacsin is most highly expressed in large neurons, including cerebellar Purkinje cells
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1255/.
Probemix content: The SALSA MLPA Probemix P441-A2 SACS contains 28 MLPA probes with amplification products between 130 and 458 nucleotides (nt). This includes 18 probes for the
SACS gene, one probe for exons 4, 8, and 9, three probes for exon 10, and two probes for the rest of the exons. Furthermore, one flanking probe is included to facilitate the determination of the extent of a deletion/duplication. In addition, nine 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.mlpa.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.mlpa.com.