Angelman (UBE3A/D15S10) Probe LPU006

In 70% of patients with Prader-Willi or Angelman Syndrome (AS) a large deletion of 3-4 Mb at 15q11-13 is observed is observed. The remainder either inherit one parental copy of the gene or have mutations within the Imprinting Centre. However, 20% of AS patients do not exhibit either trait, suggesting the involvement of a single AS gene. The candidate UBE3A gene lies within the minimum AS critical region and is mutated in 20-30% of AS patients. The Angelman Region probe mixture contains the majority of the UBE3A gene.