General information
The SALSA MLPA
Probemix P306 SPG11 is a
research use only (RUO) assay for the detection of deletions or duplications in the
SPG11 gene, which is associated with Spastic Paraplegia 11 (SPG11).
Spastic Paraplegia 11 (SPG11) is a neurological disorder characterised by progressive spasticity and weakness of the lower limbs. Other features associated with the disorder are, amongst others, mild intellectual disability, peripheral neuropathy and increased reflexes in the upper limbs.
SPG11 is inherited in an autosomal recessive manner. The majority of associated mutations in the
SPG11 gene are single nucleotide variants, but large deletions have been described.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1210/.
Probemix content
The SALSA MLPA Probemix P306-B2 SPG11 contains 51 MLPA probes with amplification products between 124 and 500 nucleotides (nt). The P306-B2 SPG11 probemix contains probes for each of the 40
SPG11 exons. In addition, one probe is included for
B2M located 50 kilobases (kb) upstream, and one probe for
CASC4 located 150 kb downstream of
SPG11. Furthermore, 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.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.