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P048 LMNA/MYOT/ZMPSTE24

SALSA MLPA Probemix P048 LMNA/MYOT/ZMPSTE24 detects copy number variation in the LMNA, MYOT, CAV3, and ZMPSTE24 genes.

Specifications

Contents: 44 MLPA probes, including probes for LMNA, ZMPSTE24, MYOT and CAV3 (covering all exons of all genes listed).

Tissue: human genomic DNA.

Application: research on laminopathies.

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

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General information

The SALSA MLPA Probemix P048-C3 LMNA/MYOT/ZMPSTE24 is a research use only (RUO) assay for the detection of deletions or duplications in the LMNA, MYOT, CAV3 and ZMPSTE24 genes, which is associated with Laminopathies.

Laminopathies have emerged as clinically heterogeneous genetic disorders due to mutations in lamins or lamin-associated proteins. Lamins are structural protein components of the nuclear lamina, a protein network underlying the inner nuclear membrane that determines nuclear shape and size. The lamins constitute a class of intermediate filaments. Three types of lamins, A, B, and C, have been described in mammalian cells.

Laminopathies regroup at least eight distinct diseases, belonging to the groups of skeletal and/or cardiac muscular dystrophies, axonal neuropathies, premature ageing syndromes and familial lipodystrophies. These diseases, such as Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome and limb-girdle muscular dystrophy type 1B (LGMD1B), result from alterations in the LMNA gene, encoding type A-lamins.

Pathophysiological mechanisms explaining how mutations in a unique gene could lead to such various phenotypes are still unknown, but probably involve alterations in cellular mechanical stress responses, in gene expression, and/or in post-translational maturation of lamin A. One gene that is involved in the post-translational processing of lamin A precursor is ZMPSTE24 (also known as FACE1 in human). Loss of function of the ZMPSTE24 gene and accumulation of precursor lamin A has been correlated with restrictive dermopathy (RD).

Mutations in the MYOT gene are associated with LGMD1A and myofibrillar myopathies. Mutations in the CAV3 gene are associated with LGMD1C.

The LMNA gene (12 exons), spans ~25.4 kb of genomic DNA and is located on 1q22, ~156 Mb from the p-telomere. The ZMPSTE24 gene (10 exons), spans ~36 kb of genomic DNA and is located on 1p34.2, ~40 Mb from the p-telomere. The MYOT gene (10 exons), spans ~20 kb of genomic DNA and is located on chromosome 5q31.2, ~138 Mb from the p-telomere. The CAV3 gene (2 exons), spans ~13 kb of genomic DNA and is located on chromosome 3p25.3, ~8.8 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK304462/.

Regulatory status

SALSA MLPA Probemix P048 LMNA/MYOT/ZMPSTE24 is for research use only (RUO) in all territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P048-025R
SALSA MLPA Probemix P048 LMNA/MYOT/ZMPSTE24 – 25 rxn
MLPA
€ 286.00
P048-050R
SALSA MLPA Probemix P048 LMNA/MYOT/ZMPSTE24 – 50 rxn
MLPA
€ 560.00
P048-100R
SALSA MLPA Probemix P048 LMNA/MYOT/ZMPSTE24 – 100 rxn
MLPA
€ 1096.00

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
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

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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