The SALSA MLPA Probemix P098 Wilson disease is a research use only (RUO)
assay for the detection of deletions or duplications in the ATP7B
gene, which is associated with Wilson disease. This probemix can also be used to detect the presence of the R778L (c.2333G>T), A874V (c.2621C>T), H1069Q (c.3207C>A) and N1270S (c.3809A>G) point mutations, and the c.-441_427del15 mutation (15BP-DEL).
Wilson disease is an autosomal recessive disorder characterised by dramatic build-up of intracellular copper. Clinical features include liver disease, neurological problems and psychiatric disturbance. Wilson disease is caused by mutations in the ATP7B
gene. The gene product is a member of the P-type cation transport ATPase family and plays an important role in transporting copper from the liver to other parts of the body (Bandmann et al. 2015).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1512/
The SALSA MLPA Probemix P098-D1 Wilson disease contains 41 MLPA probes with amplification products between 132 and 445 nucleotides (nt). This includes 28 probes for the ATP7B
gene, and one flanking probe in the ALG11
gene. In addition, 12 reference probes are included and detect 12 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).
This Probemix contains nine quality control fragments generating amplification products between 64 and 121 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.