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SALSA MLPA KIT P274 Hyperekplexia - Startle disease
[http://www.geneclinics.org/profiles/hht/details.html]
Hyperekplexia is a hereditary neurological disorder characterized by exaggerated startle reflexes and muscle stiffness in the neonate. The disease has been associated with mutations in the glycine receptor subunit genes GLRA1 and GLRB, and within the glycine transporter 2 gene SLC6A5 (GLYT2). Autosomal dominant and autosomal recessive Hyperekplexia can be caused by mutations in the GLRA1 gene encoding the alpha-1 subunit of the glycine receptor. Mutations in the SLC6A5 gene encoding the presynaptic glycine transporter-2 and mutations in the GLRB gene encoding the beta-subunit of the glycine receptor have been identified in autosomal recessive hyperekplexia cases. The P274 Hyperekplexia-Startle disease probemix contains probes for each of the 16 exons of the SLC6A5 gene which spans 56 kb of human genomic DNA on chromosome 11p15.1. In addition, the P274 probemix contains probes for each exon of the GLRA1 gene that spans 100 kb on chromosome 5q33.1. P274 also contains 10 probes for all of exons of the GLRB gene that spans 95 kb of genomic DNA on chromosome 4q32.1. Finally, this probemix includes 10 control probes detecting sequences on other chromosomes. This SALSA MLPA kit is designed to detect deletions/duplications of one or more exons of the GLRB, GLRA1 and SLC6A5 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.
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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 0907 : lot 0907
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