Oncology Probes

MD STS (Xp22) / KAL (Xp22) / SE X TCSTS (Steroid Sulfatase) disease is a chromosome X-linkeddisorder associated with a microdeletion of the gene withinthe Xp22.3 region. Deletion of the steroid sulfatase genehas been detected in individuals with recessive X-linkedichtyosis, the disease been considered one of the mostfrequent human enzyme deficient disorders. KAL1 (Kallmannsyndrome interval gene-1) maps to the Kallmann syndromecritical region on the distal short arm of the human Xchromosome. Individuals with Kallmann syndrome suffers ofhypogonadotropic hypogonadism and anosmia, with clinicalfeatures of variable phenotype. It affects approximately 1 in8000 males and 1 in 40000 females.The STS (Xp22) region probe is optimized to detect copynumbers of the STS gene region at Xp22. The KAL (Xp 22)region probe is optimized to detect copy numbers of theKAL gene region at Xp22. The Chromosome X SatelliteEnumeration (SE X) probe at DXZ1 is included to facilitatechromosome identification.Cat.# KBI-40115 STS (Xp22) / KAL (Xp22) / SE X TCDXS1130Xp22STS390 KBDXZ1RH66689Gap: 1 MBDXS1223KAL325 KBDXS7716XMicrodeletion ProbesSTS (Xp22) / KAL (Xp22) / SE X TC probe hybridized to male patientmaterial showing a deletion of the STS gene region (1R1B).Material kindly provided by Necker hospital, ParisLiterature:Alper in et al, 1997, J. Biol. Chem 272; 20756-20763.Meroni et al, 1996, Hum. Mol. Genet. 5; 423-431Ordering information Gene Region Tests Cat#MD STS (Xp22) / KAL (Xp22) / SE X TC STS/KAL 10 KBI-4011580