Choose your country to see the products for your location

SALSA MLPA Probemix P143 MFN2-MPZ

Charcot-Marie-Tooth neuropathy type 2A (CMT2A); Charcot-Marie-Tooth neuropathy type 1B (CMT1B)

Region: MFN2 1p36.22; MPZ 1q23.3

General information
The 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/.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P143-C3 MFN2-MPZ contains 38 MLPA probes with amplification products between 137 and 427 nucleotides (nt). This includes 20 probes for the MFN2 gene (one probe for each exon and two probes for exon 3) and seven probes for the MPZ gene (one probe for each exon and two probes for exon 1). Two probes upstream of MFN2, targeting the PLOD1 gene, are included. Please note that duplications of PLOD1 exons 10-16 are found in the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (Giunta et al. 2005). In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P143-025R
SALSA MLPA Probemix P143 MFN2-MPZ – 25 rxn
€ 243.00
P143-050R
SALSA MLPA Probemix P143 MFN2-MPZ – 50 rxn
€ 486.00
P143-100R
SALSA MLPA Probemix P143 MFN2-MPZ – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

SALSA MLPA Probemix P033 CMT1

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

SALSA MLPA Probemix P405 CMT1

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

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location