Three DNA markers for hypophosphataemic rickets
This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the...
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| Veröffentlicht in: | Human genetics 1992-07, Vol.89 (5), p.539-542 |
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| container_title | Human genetics |
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| creator | ROWE, P. S. N READ, A. P MOUNTFORD, R BENHAM, F KRUSE, T. A CAMERINO, G DAVIES, K. E O'RIORDAN, J. L. H |
| description | This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta max = 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity. |
| doi_str_mv | 10.1007/BF00219180 |
| format | Article |
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S. N ; READ, A. P ; MOUNTFORD, R ; BENHAM, F ; KRUSE, T. A ; CAMERINO, G ; DAVIES, K. E ; O'RIORDAN, J. L. H</creator><creatorcontrib>ROWE, P. S. N ; READ, A. P ; MOUNTFORD, R ; BENHAM, F ; KRUSE, T. A ; CAMERINO, G ; DAVIES, K. E ; O'RIORDAN, J. L. H</creatorcontrib><description>This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta max = 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00219180</identifier><identifier>PMID: 1353055</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Biological and medical sciences ; Blotting, Southern ; Chromosome Aberrations ; Diseases of the osteoarticular system ; Female ; Genetic Linkage ; Genetic Markers ; Genetic Variation ; Humans ; Hypophosphatemia, Familial - genetics ; Lod Score ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Polymorphism, Restriction Fragment Length ; Restriction Mapping ; X Chromosome</subject><ispartof>Human genetics, 1992-07, Vol.89 (5), p.539-542</ispartof><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c226t-70e100a3b1fc7f64a6e2c0f34dfb6d44b2bd396ecabd83476138510f480a09b33</citedby></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=5604516$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1353055$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>ROWE, P. S. N</creatorcontrib><creatorcontrib>READ, A. P</creatorcontrib><creatorcontrib>MOUNTFORD, R</creatorcontrib><creatorcontrib>BENHAM, F</creatorcontrib><creatorcontrib>KRUSE, T. A</creatorcontrib><creatorcontrib>CAMERINO, G</creatorcontrib><creatorcontrib>DAVIES, K. E</creatorcontrib><creatorcontrib>O'RIORDAN, J. L. H</creatorcontrib><title>Three DNA markers for hypophosphataemic rickets</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta max = 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity.</description><subject>Biological and medical sciences</subject><subject>Blotting, Southern</subject><subject>Chromosome Aberrations</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Genetic Variation</subject><subject>Humans</subject><subject>Hypophosphatemia, Familial - genetics</subject><subject>Lod Score</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Restriction Mapping</subject><subject>X Chromosome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkD1PwzAURS0EKqWwsCNlQAxIoe_5MxnbQgGpgqXMkePYSmjSBDsd-u8JakWnN9yjq_sOIbcITwigpvMlAMUUEzgjY-SMxkiBnZMxMA6xVKguyVUI3wAoUipGZIRMMBBiTKbr0lsbPX_Mokb7jfUhcq2Pyn3XdmUbulL32jaViXxlNrYP1-TC6TrYm-OdkK_ly3rxFq8-X98Xs1VsKJV9rMAOyzTL0RnlJNfSUgOO8cLlsuA8p3nBUmmNzouEcSWRJQLB8QQ0pDljE_Jw6O18-7Ozoc-aKhhb13pr213IFIMEqUgG8PEAGt-G4K3LOl8Nr-wzhOzPTnayM8B3x9Zd3tjihB50DPn9MdfB6Np5vTVV-MeEBC5Qsl86NGni</recordid><startdate>199207</startdate><enddate>199207</enddate><creator>ROWE, P. S. N</creator><creator>READ, A. P</creator><creator>MOUNTFORD, R</creator><creator>BENHAM, F</creator><creator>KRUSE, T. A</creator><creator>CAMERINO, G</creator><creator>DAVIES, K. E</creator><creator>O'RIORDAN, J. L. H</creator><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199207</creationdate><title>Three DNA markers for hypophosphataemic rickets</title><author>ROWE, P. S. N ; READ, A. P ; MOUNTFORD, R ; BENHAM, F ; KRUSE, T. A ; CAMERINO, G ; DAVIES, K. E ; O'RIORDAN, J. L. H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c226t-70e100a3b1fc7f64a6e2c0f34dfb6d44b2bd396ecabd83476138510f480a09b33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Biological and medical sciences</topic><topic>Blotting, Southern</topic><topic>Chromosome Aberrations</topic><topic>Diseases of the osteoarticular system</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Genetic Variation</topic><topic>Humans</topic><topic>Hypophosphatemia, Familial - genetics</topic><topic>Lod Score</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Restriction Mapping</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>ROWE, P. S. N</creatorcontrib><creatorcontrib>READ, A. P</creatorcontrib><creatorcontrib>MOUNTFORD, R</creatorcontrib><creatorcontrib>BENHAM, F</creatorcontrib><creatorcontrib>KRUSE, T. A</creatorcontrib><creatorcontrib>CAMERINO, G</creatorcontrib><creatorcontrib>DAVIES, K. E</creatorcontrib><creatorcontrib>O'RIORDAN, J. L. H</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>ROWE, P. S. N</au><au>READ, A. P</au><au>MOUNTFORD, R</au><au>BENHAM, F</au><au>KRUSE, T. A</au><au>CAMERINO, G</au><au>DAVIES, K. E</au><au>O'RIORDAN, J. L. H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Three DNA markers for hypophosphataemic rickets</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1992-07</date><risdate>1992</risdate><volume>89</volume><issue>5</issue><spage>539</spage><epage>542</epage><pages>539-542</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>This paper presents three markers, 16D/E, pHMAI (DXS208), and CRI-L1391 (DXS274), that show close linkage for X-linked hypophosphataemic rickets (HYP). DXS274 is closely linked to HYP (theta max = 0.00, Zmax = 4.20), and DXS41 (99.6), (theta max = 0.00, Zmax = 5.20). Marker 16D/E maps distal to the disease locus (theta max = 0.05, Zmax = 3.11). The pHMAI probe recognises the same restriction fragment length polymorphism (RFLP) as 99.6. Multipoint analysis suggests that the most probable order of loci is Xpter-(DXS43, 16D/E)-HYP-DXS274-(DXS208, DXS41)-Xcen. The location of DXS274 distal to HYP cannot be excluded, as no recombinants were observed between DXS274 and HYP, or between DXS274 and DXS41/DXS208. One of the families contains a large number of recombinants, four of which are double recombinants. This most probably means that the disease in this family maps elsewhere on the X chromosome or on an autosome, indicating locus heterogeneity.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>1353055</pmid><doi>10.1007/BF00219180</doi><tpages>4</tpages></addata></record> |
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| subjects | Biological and medical sciences Blotting, Southern Chromosome Aberrations Diseases of the osteoarticular system Female Genetic Linkage Genetic Markers Genetic Variation Humans Hypophosphatemia, Familial - genetics Lod Score Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Polymorphism, Restriction Fragment Length Restriction Mapping X Chromosome |
| title | Three DNA markers for hypophosphataemic rickets |
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