SALSA MLPA Probemix P229 OPA1 detects copy number variations in the OPA1 gene.
Contents: 40 MLPA probes, including 32 probes for OPA1 of which 1 detects the wild-type sequence of the c.2708delTTAG mutation.
Tissue: human genomic DNA.
Application: research on optic atrophy type 1.
For research use only (RUO). Not for use in diagnostics.
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/.
SALSA MLPA Probemix P229 OPA1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
See this support article for commercially available positive samples that can be used with this product.