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SALSA MLPA KIT P275 MAPT - 17q21
[http://www.geneclinics.org/profiles/hht/details.html]
MAPT gene mutations has been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. The MAPT gene comprises 13 exons, spanning about 130 kb of genomic DNA on chromosome 17q21. This region on 17q21, including the MAPT and CRHR1 genes, is flanked by repeated DNA elements and is often (20% in Europeans) present in inverted position. Deletion of this region results in the "17q21.31 microdeletion syndrome" (OMIM 10443) which is a frequent cause of mental retardation. Duplication of the same region has also been detected in a patient with severe psychomotor developmental delay. The probemix included in this P275 MAPT MLPA kit contains probes for 10 genes located at close distance to MAPT gene as well as 13 probes for MAPT exons. No probe is present yet for MAPT exon 1. As a control, 9 probes for other human genes located on different chromosomes are included. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the MAPT gene. 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)
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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Last change in probemix content Current lot number
: lot 0308 : lot 0308
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