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 |
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| container_title | Human genetics |
| container_volume | 73 |
| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1007/bf00401242 |
| format | Article |
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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</creator><creatorcontrib>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</creatorcontrib><description>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.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/bf00401242</identifier><identifier>PMID: 3015770</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>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</subject><ispartof>Human genetics, 1986-07, Vol.73 (3), p.267-270</ispartof><rights>1987 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c292t-5f2f6c6301059fc0dcdf1c17b8f6e0498619dc02227e195e147b4c0e7e1de1793</citedby><cites>FETCH-LOGICAL-c292t-5f2f6c6301059fc0dcdf1c17b8f6e0498619dc02227e195e147b4c0e7e1de1793</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8150247$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3015770$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>READ, A. 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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.</description><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Hypophosphatemia, Familial - genetics</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metals (hemochromatosis...)</subject><subject>Mice</subject><subject>Other metabolic disorders</subject><subject>Pedigree</subject><subject>Phosphates - blood</subject><subject>X Chromosome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kE1LxDAQhoMo67p68S7kIB6E6iRNm81RF1eFFUEUvJU0TbZx0w-b9tB_b8vWPc0M78PL8CB0SeCOAPD71AAwIJTRIzQnLKQBoRAeozmEDIKYE36Kzrz_ASCRoNEMzcJh4xzm6ONN1rUtt7gyOO8KWeLvwNlypzOc93VV55Wvc9lKXViFG6t2uvU47XHRuda6SnUej7jcaixL6Xpv_Tk6MdJ5fTHNBfpaP32uXoLN-_Pr6mETKCpoG0SGmljFwycQCaMgU5khivB0aWINTCxjIjIFlFKuiYg0YTxlCvRwZZpwES7Qzb63bqrfTvs2KaxX2jlZ6qrzCY9FxGIxgrd7UDWV9402Sd3YQjZ9QiAZBSaP63-BA3w1tXZpobMDOhkb8uspl15JZxpZKusP2JJEQBkP_wB1X3en</recordid><startdate>198607</startdate><enddate>198607</enddate><creator>READ, A. 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N</creatorcontrib><creatorcontrib>KING, A</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>READ, A. P</au><au>THAKKER, R. V</au><au>MCGLADE, S</au><au>PEACOCK, C. J</au><au>SMITH, R</au><au>O'RIORDAN, J. L. H</au><au>DAVIES, K. E</au><au>MOUNTFORD, R. C</au><au>BRENTON, D. P</au><au>DAVIES, M</au><au>GLORIEUX, F</au><au>HARRIS, R</au><au>HENDY, G. N</au><au>KING, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1986-07</date><risdate>1986</risdate><volume>73</volume><issue>3</issue><spage>267</spage><epage>270</epage><pages>267-270</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>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.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>3015770</pmid><doi>10.1007/bf00401242</doi><tpages>4</tpages></addata></record> |
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| subjects | 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 |
| title | Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis |
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