Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.
Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously been located at Xp22.31-p21.3 by in situ hybridisation. In the mouse hypophosphataemia (Hyp) maps to the distal part of the X chromosome; our location in man is consistent with a scheme which relates the mouse and human X chromosomes by two rearrangements. No marker has yet been found which shows no recombination with HPDR.
D000818:Animals; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008126:Lod Score; D008297:Male; D051379:Mice; D010375:Pedigree; D010710:Phosphates / Q000097:blood*; D014960:X Chromosome
D005819:Genetic Markers; D010710:Phosphates