Oncology Probes

MD X-Inactivation XIST (Xq13) / SE XThe XIST locus is expressed only from the inactive Xchromosome, resides at the putative X inactivation centre,and is considered a prime player in the initiation ofmammalian X dosage compensation. The severe phenotypeof human females whose karyotype includes tiny ring Xchromosomes has been attributed to the inability of thesmall ring X chromosome to inactivate. Many of the ringchromosomes lack the XIST locus, consistent with XISTbeing necessary for cis inactivation.The XIST specific DNA probe is optimized to detect copynumbers of the XIST region at Xq13. The chromosome Xsatellite enumeration (SE X) probe at DXZ1 is added tofacilitate chromosome identification.MD Short Stature (Xp22) / SE XIndividuals with SHOX-related short stature havedisproportionate short stature and/or wrist abnormalitiesconsistent with those described in Madelung deformity. TheSHOX genes located on the pseudoautosomal regions ofthe X and Y chromosomes are the only genes known to beassociated with SHOX-related haploinsufficiency.The SHOX region probe is optimized to detect copy numbersof the SHOX gene region at Xp22. The chromosome X satelliteenumeration (SE X) probe at DXZ1 is added to facilitatechromosome identification.Cat.# KBI-40108 X-Inactivation XIST (Xq13) / SE XCat.# KBI-40112 Short stature (Xp22) / SE XDXS1677CHIC1Xp22.3DXZ1RH47603DXZ1DXYS153Xq13.2XIST290 KBSHOXDXYS130190 KBDXS8235XDXS1166XX-Inactivation XIST (Xq13) / SE X probe hybridized to a malemetaphase (1R1G).Literature:Migeon et al, 1993, PNAS, 90: 12025-12029.Jani et al, 1995, Genomics, 27: 182-188.Ordering information Gene Region Tests Cat#MD X-Inactivation XIST (Xq13) / SE X XIST 10 KBI-40108Short stature (Xp22) / SE X probe hybridized to a malemetaphase (2R1G).Literature:Rao et al, 1997, Hum Genet, 100: 236-239.Morizio et al, 2003, Am J Med Genet, 119: 293-296.Ordering information Gene Region Tests Cat#MD Short Stature (Xp22) / SE X SHOX 10 KBI-40112Oncology Microdeletion probes Probes79