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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
1988-3-22
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-1195397,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-13565132,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-13828798,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-14124689,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-265567,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-2984924,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-3015770,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-3015771,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-3864598,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-4059909,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-6304647,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-6312838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-6585139,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-6587361,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2828625-881736
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
756-60
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:2828625-Chromosome Mapping,
pubmed-meshheading:2828625-Female,
pubmed-meshheading:2828625-Genetic Linkage,
pubmed-meshheading:2828625-Genetic Markers,
pubmed-meshheading:2828625-Humans,
pubmed-meshheading:2828625-Hypophosphatemia, Familial,
pubmed-meshheading:2828625-Male,
pubmed-meshheading:2828625-Nucleic Acid Hybridization,
pubmed-meshheading:2828625-Pedigree,
pubmed-meshheading:2828625-X Chromosome
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pubmed:year |
1987
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pubmed:articleTitle |
Bridging markers defining the map position of X linked hypophosphataemic rickets.
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pubmed:affiliation |
Department of Medicine, Middlesex Hospital, London.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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