General information
The SALSA MLPA
Probemix P059 Dystonia is a
research use only (RUO) assay for the detection of deletions or duplications in the
TOR1A, THAP1, ATP1A3, and PRKRA genes, which are associated with Dystonia. This probemix can also be used to detect the presence of the c.907_909delGAG point mutation.
Dystonias comprise a heterogeneous group of neurological movement disorders, characterized by involuntary sustained muscle contractions affecting one or more sites of the body. Dystonia can have several causes, including genetic defects. Multiple genes in different forms of dystonia have been described so far
. The
TOR1A gene is associated with early-onset generalized dystonia (DYT1), whereas the
THAP1 gene is associated with adolescent-onset segmental/generalized dystonia (DYT6), and the
ATP1A3 (DYT12) and
PRKRA (DYT16) genes are associated with rapid onset dystonia with parkinsonism and autosomal recessive dystonia with parkinsonism, respectively. This probemix can also detect the presence of the 3-bp deletion c.907_909delGAG involving the highly conserved GAGGAG sequence in exon 5 of the
TOR1A gene.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1155/.
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 P059-B2 Dystonia contains 44 MLPA probes with amplification products between 130 and 483 nucleotides (nt). This includes five probes for the
TOR1A gene, three probes for the
THAP1 gene, 17 probes for the
ATP1A3 gene, and nine for the
PRKRA gene Furthermore, this probemix also contains one probe specific for the c.907_909delGAG mutation in the
TOR1A gene, which will only generate a signal when the mutation is present. 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.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.
SALSA Binning DNA SD044
The SD044 Binning DNA provided with this probemix can be used for binning of all probes including the mutation-specific probe (166 nt probe 15798-SP0278-L17858 for the c.907_909delGAG mutation). SD044 Binning DNA is a mixture of genomic DNA from healthy individuals and plasmid DNA that contains the target sequence detected by the above mentioned probe. Inclusion of one reaction with 5 μl SD044 Binning DNA in initial MLPA experiments is essential as it can be used to aid in data binning of the peak pattern using Coffalyser.Net software. Furthermore, Binning DNA should be included in the experiment whenever changes have been applied to the set-up of the capillary electrophoresis device (e.g. when capillaries have been renewed). Binning DNA should never be used as a reference sample in the MLPA data analysis, neither should it be used in quantification of mutation signal(s). It is strongly advised that all samples tested are extracted with the same method and derived from the same source of tissue. For further details, please consult the SD044 Binning DNA product description, available online:
www.mrcholland.com.
This product is for research use only (RUO).
Sample DNA
Sample DNA developed for this product: