General information: The SALSA MLPA Probemix P325 OCA2 is a research use only (RUO) assay for the detection of deletions or duplications in the OCA2 and TYR genes, which are associated with oculocutaneous albinism.

Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterised by hypopigmentation in the skin, hair and eyes due to disorders in the melanin biosynthesis. There are different types of OCA of which OCA type 1 and type 2 (OCA1 and OCA2) are the most common. Defects in the tyrosinase gene (TYR) and the oculocutaneous albinism gene (OCA2, formerly known as the P gene) are considered to be causes of OCA1 and OCA2, respectively. The protein encoded by the OCA2 gene is the P protein, whereas the protein encoded by the TYR gene is tyrosinase. Tyrosinase is important during the initial steps of melanin production, while the P protein is a transporter protein.

The OCA2 gene (24 exons) spans ~344 kb of genomic DNA and is located on 15q12-q13.1, 26 Mb from the p-telomere. The TYR gene (5 exons) spans ~118 kb of genomic DNA and is located on 11q14.3, 89 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1232/.

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 P325-A3 OCA2 contains 42 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes 26 probes for the OCA2 gene (one for each exon, except for exons 8 and 23, and four OCA2 probes that detect intronic sequences) and five probes for the TYR gene (one for each exon, except exon 5, and one TYR probe that detects an intronic sequence). Four of the OCA2 probes are present in or near the common 2.7-kb deletion area. In addition, 11 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, 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.mlpa.com.