Summary
Two families with X-linked dominant hypophosphatemia (McKusick No. *30780) were investigated for linkage of the disease locus with several marker genes defined by cloned, single-copy DNA sequences derived from defined regions of the X chromosome. Close linkage was found with DNA markers DXS41 (p99-6) and DXS43 (pD2) at Xp22, suggesting a location of the HPDR gene on the distal short arm of the X chromosome.
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Albright F, Butler AM, Bloomberg E (1937) Rickets resistant to vitamin D therapy. Am J Dis Child 54:529–547
Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt SA (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36:546–564
Baas F, Bikker H, van Ommen GJB, De Vijlder JJM (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet 67:301–305
Bakker E, Hofker MH, Goor N, Mandel JL, Wrogemann K, Davies KE, Kunkel LM, Willard HF, Fenton WA, Sandkuyl L, Majoor-Krakauer D, Essen AJV, Jahoda MGJ, Sachs ES, van Ommen GJB, Pearson PL (1985) Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet I:655–658
Buckle VJ, Edwards JH, Evans EP, Jonasson JA, Lyon MF, Peters J, Searle AG (1985) Comparative maps of human and mouse X chromosomes. (8th International Workshop on Human Gene Mapping.) Cytogenet Cell Genet 40:594–595
Burnett CH, Dent CE, Harper C, Warland BJ (1964) Vitamin D-resistant rickets: analysis of twenty-four pedigrees with hereditary and sporadic cases. Am J Med 36:222–232
Chan JCM, Alon U, Hirschman GM (1985) Renal hypophosphatemic rickets. J Pediatr 106:533–544
Davies KE, Pearson PL, Harper PS, Murray JM, O'Brien T, Sarfarazi M, Williamson R (1983) Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res 11:2303–2312
Drayna D, White R (1985) The genetic linkage map of the human X-chromosome. Science 230:753–758
Eicher EM, Southard JL, Scriver CR, Glorieux FH (1976) Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci USA 73:4667–4671
Goodfellow PN, Davies KE, Roperts HH (1985) Report of the committee on the genetic constitution of the X and Y chromosomes. (8th International Workshop on Human Gene Mapping.) Cytogenet Cell Genet 40:296–352
Hofker MH, Wapenaar MC, Goor N, Bakker E, van Ommen GJB, Pearson PL (1985) Isolation of probes detecting restriction fragment length polymorphism from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 70:148–156
Koenig M, Camerino G, Heilig R, Mandel JL (1984) A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosome long arm. Nucleic Acids Res 12:4097–4109
McKusick VA (1983) Mendelian inheritance in man, 6th edn. Johns Hopkins University Press, Baltimore, pp 1052–1054
Menlove L, Kirschner N, Nguyen K, Morrison T, Aldridge J, Schwartz C, Atkin C, Hasstedt S, Kunkel L, Bruns G, Latt S, Skolnick M (1985) Linkage between Alport syndrome-like hereditary nephritis and X-linked RFLPs. (8th International Workshop on Human Gene Mapping.) Cytogenet Cell Genet 40: 697–698
Murray JM, Davies KE, Harper PS, Meredith L, Mueller CR, Williamson R (1982) Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 300:69–71
Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597
Page D, de Martinville B, Barker D, Wyman A, White R, Francke U, Botstein D (1982) Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci USA 79:5352–5356
Rasmussen H, Anast C (1983) Familial hypophosphatemic rickets and vitamin D-dependent rickets. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 1743–1773
Rigby PWJ, Dieckmann M, Rhodes C, Berg P (1977) Labelling deoxyribonucleic acid by nick translation with DNA polymerase I. J Mol Biol 113:237–251
Schimert G, Fanconi A (1983) Early history of familial hypophosphatemic vitamin D-resistant rickets. Helv Paediatr Acta 38:383–398
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Willard HF, Skolnick MH, Pearson PL, Mandel JL (1985) Report of the committee on human gene mapping by recombinant DNA techniques. (8th International Workshop on Human Gene Mapping.) Cytogenet Cell Genet 40:360–489
Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH (1958) A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature. Medicine (Baltimore) 37:97–142
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Mächler, M., Frey, D., Gal, A. et al. X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum Genet 73, 271–275 (1986). https://doi.org/10.1007/BF00401243
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DOI: https://doi.org/10.1007/BF00401243