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SALSA MLPA KIT P235 Retinitis Pigmentosa
[http://www.geneclinics.org/profiles/hht/details.html]
Retinitis pigmentosa (RP) is a hereditary degenerative disease of the photoreceptor neurons of the retina. RP is characterized by progressive degeneration of the peripheral retina (leading to night blindness), loss of the peripheral visual field and an abnormal electroretinogram. The genes most frequently involved in RP are RHO, IMPDH1, RP1 and PRPF31. Rhodopsin (RHO) is a highly-specialized G protein-coupled receptor that detects photons in the rod photoreceptors of vertebrates. The RHO gene is located on 3q21-q24; it has 5 exons and measures 7 kb. This MLPA probemix includes 1 probe for each exon. Mutations in IMPDH1, a widely expressed rate-limiting enzyme of the de novo pathway of guanine nucleotide biosynthesis, have been shown to cause autosomal dominant RP. The IMPDH1 gene has 17 exons and extends 20 kb on chromosome 7q32. The P235 probemix contains 7 MLPA probes for various exons of this gene. The gene for human oxygen regulated photoreceptor protein (RP1) encodes a protein that is localized in the connecting cilia of both rod and cone receptors. The RP1 protein is required for the morphogenesis of the outer segments of photoreceptor cells. The RP1 gene located on 8q11-13 and consists of 4 exons. Mutations in RP1 cause at least 7% of autosomal dominant RP. The P235 probemix includes one probe per exon, and a second one for exon 1. Finally, PRPF31 encodes a 61 kDA protein which is essential for splicing in all cell types. The pathologic effect of mutations in this gene can be seen in rod photoreceptor. The gene has 14 exons and spans 18 kb on chromosome 19q13.42. This probemix includes one probe per exon, as well as a second one for exon 1. This MLPA probemix is designed to detect deletions/duplications of one or more exons of the RHO, RP1, IMPDH1 and PRPF31 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)
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 0808 : lot 0808
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