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P143 MFN2-MPZ

SALSA MLPA Probemix P143 MFN2-MPZ detects copy number variations in the MFN2 and MPZ genes.

Specifications

Contents: 38 MLPA probes including 20 probes for MFN2 (covering all exons), and 7 probes for MPZ (covering all exons).

Tissue: human genomic DNA.

Application: research on Charcot-Marie-Tooth disease type 2A (CMT2A) and type 1B (CMT1B).

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

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Key related products

P033 CMT1

Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) – genes included: KIF1B, 17p12 region (including PMP22).

P405 CMT1

Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) – genes included: MPZ, GJB1, 17p12 region (including PMP22).

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General information

SALSA MLPA Probemix P143 MFN2-MPZ is a research use only (RUO) assay for the detection of deletions or duplications in the MFN2 and MPZ genes, which are associated with Charcot-Marie-Tooth disease type 2A and type 1B, respectively.

Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies, affecting approximately 1 in every 2500 individuals. On the basis of electrophysiological criteria, CMT is divided into 2 major types. Type 1, the demyelinating form, is characterised by a slow motor median nerve conduction velocity. Type 2, the axonal form, has normal or slightly reduced nerve conduction velocity.

Mitofusins, such as MFN2, mediate the fusion of mitochondria and thereby contribute to the dynamic balance between fusion and fission that determines mitochondrial morphology. Mutations in the MFN2 gene have been detected in affected members of several families with Charcot-Marie-Tooth disease type 2A (CMT2A).

Myelin protein zero (MPZ) is the major structural protein of peripheral myelin. Mutations in the MPZ gene are associated with the autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) which is characterised by progressive slowing of nerve conduction and hypertrophy of Schwann cells. Mutations in MPZ can also produce the more severe polyneuropathies Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN), as well as several types of axonal CMT2.

The MFN2 gene (19 exons) spans ~33 kb of genomic DNA and is located on 1p36.22, 12 Mb from the p-telomere.

The MPZ gene (6 exons) spans ~5 kb of genomic DNA and is located on 1q23.3, ~160 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1358/ and https://www.ncbi.nlm.nih.gov/books/NBK1511/.

Regulatory status

SALSA MLPA Probemix P143 MFN2-MPZ 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
P143-025R
SALSA MLPA Probemix P143 MFN2-MPZ – 25 rxn
MLPA
€ 286.00
P143-050R
SALSA MLPA Probemix P143 MFN2-MPZ – 50 rxn
MLPA
€ 560.00
P143-100R
SALSA MLPA Probemix P143 MFN2-MPZ – 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.

See this support article for commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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