Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

摘要: Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis which unknown. We performed a genome-wide linkage study in large kindred to determine chromosome location ADHR gene. Two-point LOD scores indicate that gene linked markers D12S314 [Z(theta) = 3.15 at theta 0.0], vWf 5.32 and CD4 3.53 0.0]. Moreover, multilocus analysis indicates locus located on 12p13 18-cM interval between flanking D12S100 D12S397. These data are first establish chromosomal for provide framework map further localize Such studies will permit ultimate identification insight into homeostasis.