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SALSA MLPA KIT PO97 OPA1-PAX6
The SALSA MLPA kit P097 OPA1-PAX6 has been replaced by P229 OPA1 Macular Dystrophy (OPA1 probes) and the P219 PAX6 (PAX6 Aniridia probes). The P097 is still available on request, but will no longer be produced. ANIRIDIA is a panocular disorder taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (Jordan et al., 1992). Aniridia type II is caused by mutations in the paired box gene-6 (PAX6). PAX6 is a member of the paired box gene family and encodes a transcriptional regulator involved in oculogenesis and other developmental processes. The PAX6 gene has 14 exons, spans 21 Kb of chromosomal sequence and is located on chromosome 11p13. The P097 probe mix contains MLPA probes for 6 exons of the PAX6 gene. Two probes are present for exon 1. Also included is one probe for the Wilms tumor 1 gene (WT1) which is located at a distance of 600 Kb of PAX6 gene and two probes for genes located at a distance of 4 Mb from PAX6. OPTIC ATROPHY 1 is an autosomal dominant eye disease. It is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998). Phenotype of optic atrophy 1 is related with mutation in the OPA1 gene. One transcript variant of the OPA1 gene has 29 exons. Another transcript has in addition two extra exons, numbered 4B and 5B. The OPA1 gene spans 103 Kb of chromosomal sequence and is located on chromosome 3q29. This P097 probe mix contains MLPA probes for 17 exons of the OPA1 gene. This P097 OPA1-PAX6 probemix can be used to detect copy number changes of PAX6, OPA1 and WT1 exons. MLPA kit P115 retina is available for the detection of RP1, RPE and RHO exons. As a control, 13 probes for other human genes located on different chromosomes are included.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 04; 21-11-2006 Last change in probe mix content: Lot 0305 (March-2005) Current Lot Number.: Lot 0305
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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