{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:08:20Z","timestamp":1774645700688,"version":"3.50.1"},"reference-count":16,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,12]]},"abstract":"<jats:p>Hypophosphataemic rickets is commonly an X linked dominant hereditary disorder associated with a renal tubular defect in phosphate transport and bone deformities. The gene causing this disorder has been mapped to Xp22.31----p21.3 by using cloned human X chromosome sequences identifying restriction fragment length polymorphisms (RFLPs) in linkage studies of affected families. The hypophosphataemic rickets gene locus (HPDR) was previously mapped distal to the X linked polymorphic locus DXS41 (99.6) but its position in relation to the distal loci DXS43 (D2) and DXS85 (782) was not established. In order to obtain a precise mapping of the disease locus in relation to these genetic loci, additional affected families informative for these X linked markers have been investigated. The combined results from the two studies have established linkage with the loci DXS41 (99.6) and DXS43 (D2); peak lod score for DXS41 (99.6) = 7.35, theta = 0.09, and peak lod score for DXS43 (D2) = 4.77, theta = 0.16. Multilocus linkage analysis mapped the hypophosphataemic rickets gene distal to the DXS41 (99.6) locus and proximal to the DXS43 (D2) locus, thereby revealing two bridging genetic markers for the disease.<\/jats:p>","DOI":"10.1136\/jmg.24.12.756","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"756-760","source":"Crossref","is-referenced-by-count":43,"title":["Bridging markers defining the map position of X linked hypophosphataemic rickets."],"prefix":"10.1136","volume":"24","author":[{"given":"R V","family":"Thakker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A P","family":"Read","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K E","family":"Davies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M P","family":"Whyte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Weksberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Glorieux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Davies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R C","family":"Mountford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"King","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,12,1]]},"reference":[{"key":"ref_1","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1986","unstructured":"McKusick VA. Mendelian inheritance in man. 7th ed. Baltimore: Johns Hopkins University Press, 1986.","edition":"7th ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1097\/00005792-195805000-00001","article-title":"A genetic study of familial hypophosphataemia and vitamin D resistant rickets with a review of the literature","volume":"37","author":"Winters, R.W.; Graham, J.B.; Williams, T.F.; McFalls, V.W.; Burnett, C.H.","year":"1958","unstructured":"Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH. A genetic study of familial hypophosphataemia and vitamin D resistant rickets with a review of the literature. Medicine 1958; 37:97-142.","journal-title":"Medicine"},{"key":"ref_3","first-page":"\"311","article-title":"Three additional kindreds of the sex linked dominant type with a genetic analysis for four such families","volume":"11","author":"Burnett, C.H.; Dent, C.E.; Harper, C.; Warland, B.J.","year":"1959","unstructured":"Three additional kindreds of the sex linked dominant type with a genetic analysis for four such families. Am J Hum Genet 1959;11:311-32. Burnett CH, Dent CE, Harper C, Warland BJ. Vitamin D resistant rickets. Analysis of twenty four pedigrees with hereditary and sporadic cases. Am J Med 1964;36:222-32.","journal-title":"Am J Hum Genet; Vitamin D resistant rickets. Analysis of twenty four pedigrees with hereditary and sporadic cases"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/S0307-742X(21)00372-6","article-title":"The rheumatic manifestations of metabolic bone disease","volume":"7","author":"Davies, M.; Stanbury, S.W.","year":"1981","unstructured":"Davies M, Stanbury SW. The rheumatic manifestations of metabolic bone disease. Clin Rheum Dis 1981;7:595-646.","journal-title":"Clin Rheum Dis"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF00401242","article-title":"Mapping of human Xlinked hypophosphataemic rickets by multilocus linkage analysis","volume":"73","author":"Read, A.P.; Thakker, R.V.; Davies, K.E.","year":"1986","unstructured":"Read AP, Thakker RV, Davies KE, et al. Mapping of human Xlinked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet 1986;73:267-70.","journal-title":"Hum Genet"},{"key":"ref_6","first-page":"235","article-title":"Search for molecular markers close to the Duchenne muscular dystrophy locus","volume":"37","year":"1985","unstructured":"Search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet 1985;37:235-49.","journal-title":"Am J Hum Genet"},{"key":"ref_7","first-page":"271","article-title":"X-linked dominant hypophosphataemia is closely linked to DNA markers DXS41 and DXS43 at Xp22","volume-title":"Hum Genet","volume":"73","author":"Machler, M.; Frey, D.; Gal, A.","year":"1986","unstructured":"Machler M, Frey D, Gal A, et al. X-linked dominant hypophosphataemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum Genet 1986;73:271-5."},{"key":"ref_8","first-page":"1245","article-title":"Analysis of human Y-chromosome specific reiterated DNA","volume-title":"chromosome variants. Proc Natl Acad Sci USA\\","volume":"74","author":"Kunkel, L.M.; Smith, K.D.; Boyer, S.H.","year":"1977","unstructured":"Kunkel LM, Smith KD, Boyer SH, et al. Analysis of human Y-chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA\\ 1977;74:1245-9."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","article-title":"Detection of specific sequences among DNA fragments separated by gel electrophoresis","volume":"98","author":"Southern, E.M.","year":"1975","unstructured":"Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 1975; 98:503-17.","journal-title":"J Mol Biol"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/0022-2836(77)90052-3","article-title":"Labelling deoxyribonucleic acid by nick translation with DNA polymerase 1","volume":"113","author":"Rigby, P.W.J.; Dieckmann, M.; Rhodes, C.; Berg, P.","year":"1977","unstructured":"Rigby PWJ, Dieckmann M, Rhodes C, Berg P. Labelling deoxyribonucleic acid by nick translation with DNA polymerase 1. J Mol Biol 1977;113:237-51.","journal-title":"J Mol Biol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","article-title":"A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity","volume":"132","author":"Feinberg, A.P.; Vogelstein, B.","year":"1983","unstructured":"Feinberg AP, Vogelstein B. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.","journal-title":"Anal Biochem"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1159\/000132178","article-title":"Report of the com mittee on the genetic constitution of the X and Y chromosomes. HGM8","volume":"40","author":"Goodfellow, P.N.; Davies, K.E.; Ropers, H.H.","year":"1985","unstructured":"Goodfellow PN, Davies KE, Ropers HH. Report of the com mittee on the genetic constitution of the X and Y chromosomes. HGM8. Cytogenet Cell Genet 1985;40:296-352.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1093\/nar\/11.8.2303","article-title":"Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome","volume":"11","author":"Davies, K.E.; Pearson, P.L.; Harper, P.S.","year":"1983","unstructured":"Davies KE, Pearson PL, Harper PS, et al. 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 1983;11:2303-12.","journal-title":"Nucleic Acids Res"},{"key":"ref_14","first-page":"460","article-title":"Easy calculation of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop, G.M.; Lalouel, J.M.","year":"1984","unstructured":"Lathrop GM, Lalouel JM. Easy calculation of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36:460-5.","journal-title":"Am J Hum Genet"},{"key":"ref_15","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1984","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81:3443-6."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1126\/science.4059909","article-title":"The genetic linkage map of the human X chromosome","volume":"230","author":"Drayna, D.; White, R.","year":"1985","unstructured":"Drayna D, White R. The genetic linkage map of the human X chromosome. 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