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

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 pr...

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Veröffentlicht in:Human genetics 1986-07, Vol.73 (3), p.267-270
Hauptverfasser: READ, A. P, THAKKER, R. V, MCGLADE, S, PEACOCK, C. J, SMITH, R, O'RIORDAN, J. L. H, DAVIES, K. E, MOUNTFORD, R. C, BRENTON, D. P, DAVIES, M, GLORIEUX, F, HARRIS, R, HENDY, G. N, KING, A
Format: Artikel
Sprache:eng
Schlagworte:
Animals
Biological and medical sciences
Chromosome Mapping
Female
Genetic Linkage
Genetic Markers
Humans
Hypophosphatemia, Familial - genetics
Lod Score
Male
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Mice
Other metabolic disorders
Pedigree
Phosphates - blood
X Chromosome
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Zusammenfassung: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/bf00401242