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Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis |
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| Authors: | A. P. Read R. V. Thakker K. E. Davies R. C. Mountford D. P. Brenton M. Davies F. Glorieux R. Harris G. N. Hendy A. King S. McGlade C. J. Peacock R. Smith J. L. H. O'Riordan |
| Affiliation: | (1) Department of Medical Genetics, St. Mary's Hospital, M13 0JH Manchester, UK;(2) Department of Medicine, The Middlesex Hospital, W1N 8AA London, UK;(3) Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, OX3 9DU Oxford, UK;(4) Department of Medicine, Manchester Royal Infirmary, Manchester 13, UK;(5) Shriner's Hospital, Montreal, Canada |
| Abstract: | Summary 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. |
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