Angelman (UBE3A/D15S10) Region Probe

UBE3A/D15S10: Red Fluorophore
15q Subtelomere Specific Probe (clone 154P1): Green Fluorophore

In 70% of patients with Prader-Willi or Angelman Syndrome (AS) a large interstitial deletion of 3-4 Mb at 15q11-13 is observed. The remainder exhibit uniparental disomy or mutations in the Imprinting Centre. However, 20% of AS patients do not, 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 with normal methylation patterns and biparental contribution of 15q11-13.
The Angelman Region probe mixture contains the majority of the UBE3A gene, including D15S10 and a 15q subtelomere control probe. The Angelman probe is directly labelled with a red fluorophore (Texas Red spectrum) and the 15qter probe with a green fluorophore (FITC spectrum).