Oncology Probes

MD DiGeorge “TUPLE” (22q11) / 22q13 (SHANK3)The DiGeorge “Tuple” probe targets a putative transcriptionalregulator (TUPLE1 or HIRA, HIR histone cell cycle regulationdefective homolog A) which also has been identified to liewithin the commonly deleted region DiGeorge syndrome.This probe is located distally to the “N25” probe. TheDiGeorge “Tuple” region probe is optimized to detect copynumbers of the Tuple (Hira) gene region at 22q11.2.The SHANK3 probe at 22q13 is serving as internal control.MD DiGeorge T-Box1 (22q11) / 22q13 (SHANK3)The 22q11 deletion in DiGeorge syndrome/VCFS ischaracterized by defects in the derivatives of the pharyngealapparatus. TBX1, a member of the T-box transcriptionfactor family, is required for normal development of thepharyngeal arch arteries. Haploinsufficiency of TBX1 hasbeen demonstrated to be sufficient to generate at least oneimportant component of the DiGeorge syndrome phenotypein mice. The TBX1 is also located within the minimal criticalDiGeorge region in humans.The DiGeorge TBX1 region probe is optimized to detectcopy numbers of the TBX1 gene region at 22q11.2. Thesubtelomeric (ST) 22qter DNA probe is included as controlprobe. The SHANK3 probe at 22q13 is serving as internalcontrol.Cat.# KBI-40103 DiGeorge “Tuple” (22q11) / 22q13 (SHANK3)Cat.# KBI-40104 MD DiGeorge T-box1 (22q11) / 22q13 (SHANK3)DGCR2"N25"TUPLECLH2222q11.2D22S55322q11.2D22S1624D22S163722TUPLED22S1668220 KB22TBX1RH82134230 KBRH845722q13ARSARH845722q13ARSA130 KB130 KBSHANK3SHANK3RH38881RH38881Microdeletion ProbesMD DiGeorge "Tuple" (22q11) / 22q13 (SHANK3) probe hybridizedto a normal metaphase (2R2G).Literature:Lorain at al, 1996, Genome Res, 6: 43-50.Ordering information Gene Region Tests Cat#MD DiGeorge Tuple (22q11) / 22q13 (SHANK3) TUPLE 10 KBI-40103MD DiGeorge T-box1 (22q11) / 22q13 (SHANK3) probehybridized to DiGeorge patient material showing a deletion ofthe TBX1 gene region at 22q11 (1R2G).Image kindly provided by Dr F Girard-Lemaire Service de Cytogénétique (Dr Flori), CHU StrasbourgLiterature:Lindsay et al, 2001, Nature, 410: 97-101.Merscher et al, 2001, Cell, 104: 619-629.Paylor et al, 2006, PNAS, 103: 7729-7734.Ordering information Gene Region Tests Cat#MD DiGeorge T-box1 (22q11) / 22q13 (SHANK3) TBX1 10 KBI-4010472