The human vitamin D receptor gene (VDR) is localized to region 12cen-q12 by fluorescent in situ hybridization and radiation hybrid mapping: Genetic and physical VDR map

The vitamin D receptor (VDR) is a member of the steroid hormone receptor su perfamily of ligand-activated transcription factors. The VDR gene was previ ously mapped to human chromosome 12q13-12q14, but its precise physical and genetic localization are unknown. The present study reports the mapping of the human VDR gene by radiation hybrid (RH) analysis, the isolation of a ba cterial artificial chromosome (BAC) containing this gene, and physical mapp ing of the VDR gene by fluorescent in situ hybridization (FISH). RH analysi s placed the VDR gene locus at chromosome 12cen-q12, flanked by Stanford Hu man Genome Center (SHGC) 30216 and SHGC 9798 (D12S1892) markers. FISH analy sis of a BAC containing the VDR gene confirmed its centromeric location. Th us, me have identified a BAC and genetic markers which can be used in the g enetic analysis of the VDR gene and investigation of its involvement in ost eoporosis and related disorders. We conclude that the VDR gene is centromer ic to its previously reported locus on chromosome 12.