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SALSA MLPA KIT P151 & P152 ABCA4
[http://www.geneclinics.org/profiles/hht/details.html]
P151: lot 0507. Three changes as compared to the previous lot 0805: two control probes have been replaced and an ABCA4 exon 32 probe has been added. P152: lot 0507, 0805. The ABCA4 (ABCR) gene has 50 or 51 exons, spans 128 Kb of chromosomal sequence and is located on chromosome 1p22.1. Defects in the ABCA4 gene can cause several different diseases, including Stargardt macular dystrophy (MIM 248200), Retinitis pigmentosa (MIM 601718) and age-related macular degeneration-2 (MIM 153800). This MLPA kit is designed to detect deletions and duplications of one or more exons of the ABCA4 gene. These large defects are expected to result in Stargardt disease. ABCA4 is an ATP-binding cassette (ABC) transporter. The ATP-binding cassette (ABC) superfamily includes genes whose products are transmembrane proteins involved in energy-dependent transport of a wide spectrum of substrates across membranes. The ABCR gene is expressed exclusively in the retina. Mutations in this gene are related with Stargardt macular dystrophy, which is one of the most frequent causes of macular degeneration in childhood. It has onset between 7 and 12 years, a rapidly progressive course, and a poor final visual outcome. In most individuals with the disorder, syndrome appears to occur randomly for unknown reasons (sporadic). However, there have been some familial cases, suggesting autosomal (recessive) inheritance. The incidence is estimated to be 1: 10.000 live births. This SALSA MLPA kit is designed to detect deletions / duplications of one or more exons of the ABCA4 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 (word)
Full mix description (pdf)
Last update probemix description: Vs. 03; 24-05-2007 Last change in probemix content: P151 lot 0507; P152 lot 0805 Current lot number.: P151 lot 0507; P152 lot 0507
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 2007 -- Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
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