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SALSA MLPA KIT P143 CMT2A/1B
Charcot-Marie-Tooth disease constitutes a clinically and genetical heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types. Type 1, the demyelinating form is characterized by a slow motor median nerve conduction velocity. Type 2, the axonal form, has normal or slightly reduced nerve conduction velocity. This P143 CMT2A / 1B probemix can be used to detect copy number changes in the MFN2 gene resulting in CMT type 2A and the MPZ gene resulting in CMT type 1B. The P033B MLPA kit can be used to detect copy number changes of the PMP22 gene resulting in CMT type 1A. The MFN2 gene has 19 exons and spans 34 kb on chromosome 1p36.2. 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 has 6 exons and spans 5 kb on chromosome 1q22. 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 characterized 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 probe mix contains at this moment MLPA probes for all 19 exons of the MFN2 and all 6 coding exons of the MPZ gene. Two probes upstream of MFN2 are included. In addition, 10 control probes for other human genes located on different chromosomes are included. This MLPA kit is designed to detect deletions / duplications of one or more exons of the MFN2 and MPZ genes. Deletions of probe recognition sequences will be apparent by a 35-50% reduced relative peak area of the amplification product of that probe. However, mutations/polymorphisms very close to the probe ligation site may also result in a reduced relative peak area. Apparent deletions of a single exon therefore always require confirmation by other methods. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. The following MLPA kits may also be of interest: P033B CMT1/HNPP region - Charcot-Marie-Tooth disease type 1A - genes included: PMP22, COX, TEKT3 P129 GJB1 - X-linked Charcot-Marie-Tooth disease - genes included: GJB1
Full mix description (pdf)
Last change in probe mix content: Lot 0107 (Jan 2007) Current Lot Number.: Lot 0107
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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