The SALSA MLPA
Probemix P147 1p36 is a research use only (RUO)
assay for the detection of deletions or duplications in the 1p36 subtelomeric region, which are associated with the 1p36 deletion syndrome, also referred to as “monosomy 1p36”. The P147 1p36 can be used to confirm and further characterise abnormalities detected by P036 Subtelomeres Mix 1 and/or P070 Subtelomeres Mix 2B.
1p36 deletion syndrome is a chromosome disorder where the end of the short arm of one of the two chromosomes is lost. The breakpoints for this cytogenetic syndrome are variable and range from bands 1p36.13 to 1p36.33 (Slavotinek et al. 1999). It is considered to be one of the most common chromosome terminal deletion syndromes and is a frequent cause of intellectual disability, although there is phenotypic variability based on the location and the extent of the deletions (Jordan et al. 2015). The incidence has been estimated to be 1 in 5,000 to 1 in 10,000 live born children (Gajecka et al. 2007). To date, more affected females than males have been reported.
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.
The SALSA MLPA Probemix P147-C1 1p36 contains 48 MLPA probes with amplification products between 124 and 500 nucleotides (nt). This includes 37 probes for the 1p36
subtelomeric region. 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.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