Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

Hum Genet. 1986 Jul;73(3):267-70. doi: 10.1007/BF00401242.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromosome Mapping
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Hypophosphatemia, Familial / genetics*
  • Lod Score
  • Male
  • Mice
  • Pedigree
  • Phosphates / blood*
  • X Chromosome*

Substances

  • Genetic Markers
  • Phosphates