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SALSA MLPA KIT P022 PLP1
[http://www.geneclinics.org/profiles/hht/details.html]
PELIZAEUS-MERZBACHER DISEASE (PMD) is a severe degenerative brain disorder due to dysmyelination of the central nerve system. Classic PMD (MIM 312080) is inherited in an X-linked recessive fashion and is caused by mutations in the myelin proteolipid protein (PLP1) gene. This PLP1 gene encodes 2 isoforms of this protein, PLP and DM20 that together account for about half of the protein content of adult CNS myelin. The mRNAs encoding PLP and DM20 are synthesized through alternative splicing of the primary transcript of the PLP1 gene. Complete duplication of the PLP1 gene on Xq22 is the cause of 60-70 % of the PMD cases, whereas deletions of this gene as well as point mutations in coding or splice site regions are involved in the majority of the remaining cases. Carrier females with a PLP1 duplication are usually asymptomatic. Duplication of the complete PLP1 gene will usually not be detected by techniques like sequencing or DGGE. As the PLP1 gene is located on the X chromosome, a deletion of one or more exons will be easily noted in males. Deletions will usually not be detected by sequencing or DGGE in carrier females as a normal copy is also present. MLPA is an easy to perform method that will detect both deletions as well as duplications of the PLP1 gene. The PLP1 gene has 7 exons and covers approximately 17 Kb. This probemix contains one probe for each PLP1 exon, as well as 8 control probes on other parts of the X chromosome, one probe that detects a Y chromosome sequence and 16 probes that detect sequences on other chromosomes.
Full mix description (pdf)
Last change in probe mix content: Lot 0604 (June 2004) Current Lot Number.: Lot 0108
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 -- Multiplex Ligation-Dependent Probe Amplification for Rapid Detection of Proteolipid Protein 1 Gene Duplications and Deletions in Affected Males and Carrier Females with Pelizaeus-Merzbacher Disease. 2005 -- Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
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