General information
The SALSA MLPA
Probemixes P151 ABCA4 mix-1 and P152 ABCA4 mix-2 are
research use only (RUO) assays for the detection of deletions or duplications in the
ABCA4 gene, which is associated with several diseases, including Stargardt macular dystrophy, retinitis pigmentosa type 19 (RP19), cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and age-related macular degeneration type 2 (ARMD2). These diseases are inherited in an autosomal recessive manner, except from ARMD2 which is a dominant disorder. The
ABCA4 gene encodes an ATP-binding cassette (ABC) transporter. This transmembrane protein, expressed exclusively in retinal photoreceptors, is involved in energy-dependent transport of a wide spectrum of substrates across membranes.
More information is available at
http://omim.org/entry/601691.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P151-C1 ABCA4 mix-1 contains 39 MLPA probes with amplification products between 130 and 454 nucleotides (nt). This includes 26 probes for the
ABCA4 gene and one downstream flanking probe in the
BCAR3 gene. In addition, 12 reference probes are included that detect autosomal chromosomal locations. The SALSA MLPA Probemix P152-C2 ABCA4 mix-2 contains 33 MLPA probes with amplification products between 133 and 445 nucleotides (nt). This includes 23 probes for the
ABCA4 gene. In addition, ten reference probes are included that detect autosomal chromosomal locations. Together, these probemixes cover all exons of the
ABCA4 gene with the exception of exon 13, 33 and 40. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.