PTHrP-based prediction and diagnosis of bone disease

摘要

The invention provides methods of diagnosing bone disease and/or a susceptibility thereto, in an individual. The method includes screening a biological sample obtained from the individual for one or more genetic indicators of bone disease in said PTHrP gene of the individual, and diagnosing the individual based on a characterization of the genetic indictor(s) detected. A genetic indicator of the invention preferably includes a genetic segment of a PTHrP gene. More preferably, a genetic segment of a PTHrP gene includes a VNTR containing region. The invention further relates to transgenic non-human mammals for the study of bone disease and/or bone conditions or for drug discovery, lead optimization, identification of drug candidates & drug development, wherein a transgenic mammal of the invention may be (a) homozygous for disrupted PTHrP gene only in osteoblast cells of said mammal (PTHrPflox/f lox crecol I); (b) heterozygous for disrupted PTHrP gene (PTHrP^-/+) in all cells of said mammal; or (c) heterozygous for disrupted PTHrP gene (PTHrP^-/+) only in osteoblast cells of said mammal.