PRADER-WILLI SYNDROME (PWS) and ANGELMAN SYNDROME (AS) are usually caused by chromosomal deletions on chromosome 15q11 or by uniparental disomy (UPD). It result in an abnormal expression profile of gene loci that are subject to imprinting. Absence of a paternal allele of chromosome 15q11, due to chromosomal deletion or uniparental disomy, results in PWS while the absence of the maternal copy of the same region causes AS.
SALSA® MS-MLPA® PROBEMIX ME028
SALSA® MS-MLPA® probemix ME028 used to detect copy number changes, as well as to analyse CpG island methylation of the 15q11 region in a semi-quantitative manner. SALSA® MLPA® ME028-C1 PWS/AS probemix contains probes specific for sequences in or near the PWS/AS critical region of chromosome 15q11, which can be used to detect copy number changes in this region. Five of these probes are specific for an imprinted sequence and contain a recognition site for the methylation sensitive HhaI enzyme. These five probes can be used for the presence of aberrant methylation patterns in the 15q11 locus, either caused by uniparental disomy or by imprinting defects.