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P235 Retinitis

SALSA MLPA Probemix P235 Retinitis detects copy number variations in the RHO, IMPDH1, RP1 and PRPF31 genes.

Specifications

Contents: 44 MLPA probes, including 5 probes for RHO (covering all exons), 9 probes for IMPDH1, 5 probes for RP1, 15 probes for PRPF31 (covering all exons), and 1 probe for RPE65.

Tissue: human genomic DNA.

Application: research on retinitis pigmentosa (RP).

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

P221 LCA mix-1

Leber congenital amaurosis, genes included: RPE65, AIPL1, CRB1, CRX.

P222 LCA mix-2

Leber congenital amaurosis, genes included: CEP290, GUCY2D, RDH, RPGRIP1.

View all

General information

The SALSA MLPA Probemix P235 Retinitis is a research use only (RUO) assay for the detection of deletions or duplications in the RHO, IMPDH1, RP1, and PRPF31 genes, which are associated with Retinitis Pigmentosa (RP).

RP is a hereditary degenerative disease of the photoreceptor neurons of the retina. RP is characterized by progressive degeneration of the peripheral retina (leading to night blindness), loss of the peripheral visual field, and an abnormal electroretinogram. The genes most frequently involved in RP are RHO, IMPDH1, RP1, and PRPF31. Rhodopsin (RHO) is a highly-specialized G protein-coupled receptor that detects photons in the rod photoreceptors of vertebrates. Mutations in IMPDH1, a widely expressed rate-limiting enzyme of the de novo pathway of guanine nucleotide biosynthesis, have been shown to cause autosomal dominant RP. The gene for human oxygen regulated photoreceptor protein (RP1) encodes a protein that is localized in the connecting cilia of both rod and cone receptors. The RP1 protein is required for the morphogenesis of the outer segments of photoreceptor cells. Mutations in RP1 cause at least 7% of autosomal dominant RP. Lastly, PRPF31 encodes a 61 kDa protein which is essential for splicing in all cell types. The pathologic effect of mutations in this gene can be seen in rod photoreceptors. Furthermore, this probemix contains also a probe for RPE65 gene which is also linked to RP.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1417/.

Regulatory status

SALSA MLPA Probemix P235 Retinitis is for research use only (RUO) in all territories.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P235-025R
SALSA MLPA Probemix P235 Retinitis – 25 rxn
MLPA
€ 296.00
P235-050R
SALSA MLPA Probemix P235 Retinitis – 50 rxn
MLPA
€ 580.00
P235-100R
SALSA MLPA Probemix P235 Retinitis – 100 rxn
MLPA
€ 1135.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Price details & ordering

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.

More information about ordering & prices

Positive samples

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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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