Abstract
Cloned human X chromosome fragments identifying DNA sequence polymorphisms have been used as genetic markers in linkage studfes to localise the abnormal gene that causes X-linked hypophospbataemic rickets. These linkage studies were performed in 11 families in which the disease had occured in 3 or more generations. Leucocyte DNA was extracted and digested with restriction endonucleases (Pst I, Pvu II, EcoRI or Taq I), electrophoresed on 0.8% agarose gels, transferred to Hybond-N membranes and hybridised with an appropriate X chromosome radioactive probe: 782, 754, D2, 99.6 and L128 for the short arm and 52A, DXYS1 and S9 for the long arm. Lod scores for linkage between the restriction fragment length polymorphism (RFLP) and the disease were calculated using the MLINK computer program and the order of gene loci determined with LINKMAP. Linkage was established between hypophosphataemic rickets and an RFLP for probe 99.6 (peak lod score = 4.8, θ= 0.10) and a distal position within 10 centimorgans of the 99.6 locus is favoured. This localises the hypophosphataemic rickets gene to the region Xp22.31 - Xp21.3.
Thus the gene regulating phosphate excretion is mapped to the short arm of the X chromosome. Defining the gene locus may provide genetic markers for earlier diagnosis and further elucidate the biochemical defect.
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Thakker, R., Davies, K., Read, A. et al. LOCALISATION OF THE X-LINKED HYPOPHOSPHATAEMIC RICKETS GENE. Pediatr Res 20, 1185 (1986). https://doi.org/10.1203/00006450-198611000-00068
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DOI: https://doi.org/10.1203/00006450-198611000-00068