Oncology Probes

MD Angelman UBE3A (15q11) / PML (15q24)Angelman syndrome (AS) is characterized by severedevelopmental delay or mental retardation, severe speechimpairment, gait ataxia and/or tremulousness of the limbs,and an unique behavior with an inappropriate happydemeanor that includes frequent laughing, smiling, andexcitability. In addition, microcephaly and seizures arecommon. AS is caused by absence of a maternal contributionto the imprinted region on chromosome 15q11-q13 includingthe UBE3A gene.The AS UBE3A region probe is optimized to detect copynumbers of the UBE3A gene region at 15q11. The PML(promyelocytic leukemia) gene specific DNA probe at 15q24is included as control probe.MD Williams-Beuren ELN (7q11) / 7q22Williams-Beuren syndrome (WS) is characterized bycardiovascular disease, distinctive facial features, connectivetissue abnormalities, mental retardation and endocrineabnormalities. Over 99% of individuals with the clinical diagnosisof WS have this contiguous gene deletion, that encompassesthe elastin (ELN) gene region including ELN, LIMK1, and theD7S613 locus.The Williams-Beuren region probe is optimized to detect copynumbers of the ELN gene region at 7q11. The 7q22 regionspecific DNA probe at 7q22 is included as control probe.Cat.# KBI-40110 Angelman UBE3A (15q11) / PML (15q24)Cat.# KBI-40111 Williams-Beuren ELN (7q11) / 7q22SNRPNSWSS2677ELND15S108915q11.2UBE3AD15S10D15S210220 KB7q22LIMK17q11.2CYLN2350 KB1515q24RH 54241D7S3272PML7200 KBD15S991Microdeletion ProbesAngelman UBE3A (15q11) / PML (15q24) probe hybridized to anormal interphase/metaphase (2R2G).Literature:Matsuura et al, 1997, Nat Genet, 15: 74-77.Burger et al, 2002, Am J Med Genet, 111: 233-237.Ordering information Gene Region Tests Cat#MD Angelman UBE3A (15q11) / PML (15q24) UBE3A 10 KBI-40110Williams-Beuren ELN (7q11) / 7q22 probe hybridized to anormal metaphase (2RG).Literature:Ewart, et al, 1993, Nat Genet, 5: 11-16.Botta et al, 1999, J Med Genet, 36: 478-480Ordering information Gene Region Tests Cat#MD Williams-Beuren ELN (7q11) / 7q22 ELN 10 KBI-4011176