General information
The SALSA MLPA
Probemix P079 OTC is a
research use only (RUO) assay for the detection of deletions or duplications in the
OTC gene, which is associated with Ornithine Transcarbamylase Deficiency (OTCD).
OTCD is characterized by a frequent inborn error of the urea cycle, a partially dominant X-linked trait causing hyperammonemia and orotic aciduria. Missense, nonsense, and frameshift mutations in the gene ornithine carbamoyltransferase (
OTC) lead to OTCD. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix enzyme that catalyses the second step of the urea cycle in mammals. Severe deficiency or total absence of
OTC results in the accumulation of ammonia and other precursor metabolites during the first few days of life.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK154378/.
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 P079-A4 OTC contains 20 MLPA probes with amplification products between 147 and 382 nucleotides (nt). This includes ten probes for the
OTC gene, one probe for each exon. In addition, ten reference probes are included that detect locations on the X-chromosome. 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.