General information
The SALSA MLPA Probemix P219 PAX6 is a research use only (RUO) assay for the detection of deletions or duplications in the 11p13-14 region, which includes the PAX6 and WT1 genes, and the SOX2 gene on 3q26, which are associated with hereditary ocular malformations.

In the human eye morphogenesis a molecular genetic cascade is involved. A number of developmental genes interact in a highly organized process during the embryonic period, to produce functional ocular structures. During the early stages of eye development, PAX6 induces the differentiation of progenitor cells into neurons in the retina, as well as the expression of crystallins in lens epithelial cells. PAX6 mutations lead to a variety of hereditary ocular malformations of the anterior and posterior segment that includes aniridia, coloboma of the iris, keratitis, congenital cataracts, Peter’s anomaly, and optic nerve defects.

WT1 is required for at least two critical functions during retinogenesis: proliferation of the progenitor cells and development of the retinal ganglion cells. The WT1 gene is often co-deleted with PAX6 in patients with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. The SOX2 gene encodes a transcription factor involved in the regulation of embryonic development. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1360/.

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 P219-B4 PAX6 contains 44 MLPA probes with amplification products between 130 and 463 nucleotides (nt). This includes 32 probes for the 11p13-14 region: seven probes downstream of the PAX6 gene, 13 probes targeting the PAX6 gene (at least one probe for each exon with the exception of exon 11), six probes located in the region between PAX6 and WT1, three probes for the WT1 gene, and three probes upstream of the WT1 gene. Furthermore, three probes are included targeting exon 1 of the SOX2 gene. In addition, nine 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.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, 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.