Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P143 MFN2 MPZ probemix - 100 reactions

SALSA MLPA P143 MFN2 MPZ probemix - 100 reactions

SALSA MLPA P143 MFN2 MPZ probemix - 100 reactions

application: Charcot-Marie-Tooth disease (CMT2A/1B)
region: MFN2 1p36.2, MPZ 1q22 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P143-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P143 MFN2 MPZ probemix - 100 reactions

P143-100R SALSA MLPA P143 MFN2-MPZ probemix – 100 rxn

This P143 MFN2-MPZ probemix (previous name P143 CMT2A/1B) can be used to detect copy number changes in the MFN2 gene resulting in Charcot-Marie-Tooth disease (CMT) type 2A and the MPZ gene resulting in CMT type 1B. 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.

The MFN2 gene (19 exons) spans ~33 kb of genomic DNA and is located on 1p36.22, 12 Mb from the p-telomere. 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 MFN2 have been detected in affected members of several families with Charcot-Marie-Tooth disease type 2A (CMT2A).

The Myelin protein zero (MPZ) gene (6 exons) spans ~5 kb of genomic DNA and is located on 1q23.3, ~161 Mb from the p-telomere. Myelin protein zero 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 P143-C1 probemix contains MLPA probes for all 19 exons of the MFN2 and all 6 coding exons of the MPZ gene. Two probes upstream of MFN2, recognising the PLOD1 gene, are included. Please note that in Ehlers-Danlos syndrome VIA (kyphoscoliotic type) duplications of PLOD1 exons 10-16 are found (Giunta et al., 2005). In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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