General information
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 mainly caused by missense mutations and small deletions and insertions in the
ATP7B gene (Bandmann et al. 2015). 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). Wilson disease-causing mutations have a reduced penetrance and, although it was believed that the birth genetic prevalence of this disease is about 1:30000, new studies with different methodologies have estimated a significantly higher prevalence, of about 1:7000 (Gao et al. 2019).
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1512/
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 P098-E1 Wilson disease contains 41 MLPA probes with amplification products between 132 and 445 nucleotides (nt). This includes 28 probes for the
ATP7B gene, including
five probes detecting the wildtype sequence for the R778L (c.2333G>T), A874V (c.2621C>T), H1069Q (c.3207C>A) and N1270S (c.3809A>G) point mutations, as well as the c.-441_427del15 mutation (15BP-DEL). Furthermore, one flanking probe in the
ALG11 gene is included. In addition, 12 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, 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.