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SALSA MLPA KIT P051 / P052B Parkinson
[http://www.geneclinics.org/profiles/hht/details.html]
FAMILIAL PARKINSON DISEASE (PD) is rare. Mutations in the genes and loci that have been identified to date probably account for a considerable fraction of the early-onset PD cases (before 45 years age), but for only a small subset of the late-onset PD cases. Mutations in six specific genes have been implicated in familial PD. These two probemixes have been designed to provide information on aberrant copy numbers of four of these genes: PARK1 (SNCA; alpha-synuclein), PARK2 (Parkin), PARK5 (UCHL1), PARK6 (PINK1) and PARK7 (DJ1). MLPA probes for the recently discovered PARK8 gene (Dardarin) are present from lot 0505 onwards. Major application of this MLPA kit will be the detection of deletions / duplications of the part of the PARK2 gene, which have been reported to be a frequent cause of early-onset PD. For most PARK2 exons, two probes are present. More information about the genes included can be found on the next page. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the Parkinson 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. Please note that most defects in these genes are expected to be small (point) mutations, most of which will not be detected by this MLPA test.
Full mix description (pdf)
Last change in probe mix content: P051 lot 0506; P052 lot 0907 Current Lot Number.: P051 lot 0608; P052 lot 0907
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-- Mutations in DJ-1 are rare in familial Parkinson disease. 2006-- Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.
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