The SALSA MLPA
Probemix P153 EYA1 is a research use only (RUO)
assay for the detection of deletions or duplications in the EYA1
gene, which is associated with Branchio-oto-renal dysplasia (BOR) syndrome.
BOR syndrome, an autosomal dominant disorder, affects an estimated 2% of profoundly deaf children. Besides deafness, it is also characterized by renal, head, and neck abnormalities. Defects in the EYA1
gene are the cause of this syndrome. Complex genomic rearrangements account for a considerable fraction of all identified mutations in EYA1
(Chang et al. 2004; Vervoort et al. 2002).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1380/
The SALSA MLPA Probemix P153-B2 EYA1 contains 28 MLPA probes with amplification products between 130 and 346 nucleotides (nt). This includes 18 probes for the EYA1
gene, one probe for each exon. In addition, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.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, 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.mlpa.com