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SALSA MLPA KIT P033B CMT1/HNPP region
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CHAROT-MARIE TOOTH DISEASE type 1A (CMT1A) can be caused by duplication of a 1.5 Mb region on chromosome 17p11.2 and a deletion of the same region causes Hereditary neuropathy with liability to pressure palsies (HNPP). Duplication or deletion of this chromosomal region is caused by unequal crossing over due to two 24 Kb CMT1A-REP repeats flanking this region. Increased gene dosage of the PMP22 gene, influencing nerve conduction velocity, is the main cause of the clinical manifestations of CMT1A. PMP22 encodes the peripheral myelin protein 22. CMT in all of its forms is the most common inherited peripheral neuropathy in humans, with a total prevalence rate of 1 in 2,500. The most common form is CMT1A, in which the average age of onset of clinical symptoms is around 12 years. Duplication of PMP22 may be found in up to 70 % of inherited and 90 % of sporadic cases of CMT type 1. Deletion of this region is found in 85% of HNPP cases. The majority of individuals with the HNPP deletion probably remain undiagnosed due to ascertainment bias secondary to the mild phenotype (Lupski, J.R. et al (1993) J. Am. Med. Ass., 270, 2326-2330). Larger regions of duplication or point mutations in PMP22 can also cause CMT1A. Clinically normal adult CMT1A patients are rare, but do exist. This is very important as patients with CMT syndrome are particularly susceptible to vincristin neurotoxicity. This P033B CMT probemix contains probes for genes located in the CMT/HNPP region at 17p12: PMP22, COX, & TEKT3. A probe for each exon of the five exons of PMP22 is present in this probemix. COX is commonly disrupted by an CMT1A/HNPP rearrangements. In addition this probemix contains several probes just outside the CMT/HNPP region. The P064 MR1 MLPA probemix contains several probes for the chromosomal region involved in the Smith-Magenis syndrome. The chromosome 17 region deleted in the Smith-Magenis syndrome is immediately adjacent to the CMT1/HNPP chromosomal region.
Full mix description (word)
Full mix description (pdf)
Last change in probe mix content: Lot 0406 (April 2006) Current lot number.: Lot 0207
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 2006 -- Identification of Alu elements mediating a partial PMP22 deletion. 2004 -- Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. 2004 -- Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
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