General information
The SALSA MLPA
Probemix P229 OPA1 is a
research use only (RUO) assay for the detection of deletions or duplications in the
OPA1 gene, which is associated with optic atrophy type 1. In addition, this probemix contains a probe which detects the wildtype allele of the c.2708delTTAG mutation.
The
OPA1 gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness.
The
OPA1 gene (31 exons) spans ~105 kb of genomic DNA and is located on chromosome 3q29, ~195 Mb from the p-telomere (close to the q-telomere).
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1248/.
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 P229-B5 OPA1 contains 40 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes 32 probes for the
OPA1 gene. Furthermore, it also contains one probe specific for the wildtype allele of the c.2708delTTAG mutation which will only generate a signal when the wildtype allele is present. 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.