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SALSA MLPA KIT P165 HSP deletion test kit
HEREDITARY SPASTIC PARAPLEGIA (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPAST) located on chromosome 2p22 and atlastin (SPG3A) located on chromosome 14q21 have been known to account for approximately 40% and 10% of all cases, respectively. The probe mix included in this kit contains one MLPA probe for each exon of SPG3A except exon 13, two MLPA probes for the isolated exon 1 are included. For SPAST there are probes included for all of the 17 exons, including two probes for exon 17 and three probes specific for exon 1. In addition, 12 MLPA probes specific for other human genes located on different chromosomes are included for copy number quantification. The P211 SPAST region probemix contains more probes close to the SPAST gene as well as probes in the 15q11 region with NIPA1 / SPG6. The P213 HSP-2 probemix contains probes for the REEP1 and SPG7 genes that are also involved in hereditary spastic paraplegia.
Full mix description (pdf)
Last change in probemix content: Lot 0708 (July 2008) Current Lot Number.: Lot 0708
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References 2006 -- High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
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