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SALSA MLPA KIT P229 Macular Dystrophy (OPA1)
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
The former SALSA MLPA kit P097 OPA1-PAX6 has been replaced by P229 OPA1 Macular Dystrophy (OPA1 probes) and the P219 PAX6 (PAX6 Aniridia probes). Macular dystrophy is a heterogeneous group of distinct disorders which is characterized by morphological changes, most profoundly in the central fundus, and loss of central vision, assumed to result predominantly from degeneration of cone photoreceptors. The disorder is caused by mutations in the genes OPA1, VMD2 and/or RDS. Peripherin/rds (P/rds) is a membrane glycoprotein which is essential for the morphogenesis and maintenance of the outer segment disc of the eyes' photoreceptors. More than half of the disease-causing mutations in P/rds have been linked to different forms of macular dystrophy. The gene P/rds has 3 exons and spans 28 kb on chromosome 6p21.2-p12.3. The probemix contains one probe for each RDS exon and a second probe for exon 2. VMD2 is expressed in the retinal pigment epithelium and encodes a transmembrane protein with undetermined functional properties. Mutations have been documented in a significant percentage of patients with adult vitelliform macular dystrophy (AVMD). VMD2 has 11 exon and spans 17 kb on chromosome 11q13. This probemix contains one MLPA probe for each exon. The OPA1 (Optic atropy Type 1) protein has an important and very specific function in the forming of ganglion cells in the optic nerve, as well as in the intrinsic signal processing of the inner retina. The OPA1 gene has 31 exons and spans 106 kb on chromosome 3q28-q30. The probemix contains 23 MLPA probes for 21 different exons.
Full mix description (word)
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 1006 (October 2006) : lot 1006
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