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P289 LMX1B

SALSA MLPA Probemix P289 LMX1B detects copy number variations in the LMX1B gene.

Specifications

Contents: 18 MLPA probes, including 8 probes for LMX1B (covering all exons).

Tissue: human genomic DNA.

Application: research on nail-patella syndrome (NPS).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P289 LMX1B is a research use only (RUO) assay for the detection of deletions or duplications in the LMX1B gene, which is associated with nail-patella syndrome.

The LMX1B gene (8 exons) spans ~87 kb of genomic DNA and is located on chromosome 9q33, ~128 Mb from the p-telomere.

Nail patella syndrome (NPS) is an autosomal dominant disorder characterised by nail and skeletal malformations, nephropathy and glaucoma. The renal change resembles glomerulonephritis. Anomalies in a single gene, LMX1B, underlie this disease. Genomic alterations affecting the function of the LMX1B gene are found in up to 91% of families with NPS (Ghoumid et al. 2016). LMX1B encodes a transcription factor containing two zinc-binding LIM domains (exons 2&3) and a homeodomain (exons 4-6). This transcription factor is involved in multiple developmental processes, including those of the limbs and kidneys, which explains the pleiotropic effect of variation in this gene. The LIM domains are responsible for the interaction with other proteins, whereas the homeodomain binds to DNA. Absence or inactivation of the LIM domain inhibits the interaction with other transcription factors involved in DNA binding. Although clear genotype-phenotype associations have not been found for extrarenal manifestations, mutations in the homeobox are frequently associated with nephropathy (Harita et al. 2016). Along exhaustive information on LMX1B sequence variation, MLPA revealed new LMX1B gene deletions (Bongers et al. 2008; Ghoumid et al. 2016). Please note that the MLPA probemix used by Bongers et al. is different from this P289 probemix.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1132.

Regulatory status

SALSA MLPA Probemix P289 LMX1B is for research use only (RUO) in all territories.

Product documentation

Version A3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P289-025R
SALSA MLPA Probemix P289 LMX1B – 25 rxn
MLPA
€ 296.00
P289-050R
SALSA MLPA Probemix P289 LMX1B – 50 rxn
MLPA
€ 580.00
P289-100R
SALSA MLPA Probemix P289 LMX1B – 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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