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rdf:type |
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lifeskim:mentions |
umls-concept:C0018591,
umls-concept:C0029434,
umls-concept:C0033382,
umls-concept:C0086418,
umls-concept:C0205369,
umls-concept:C0547040,
umls-concept:C0766823,
umls-concept:C0796345,
umls-concept:C1333079,
umls-concept:C1521991,
umls-concept:C1524063,
umls-concept:C2675052
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pubmed:issue |
3
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pubmed:dateCreated |
1986-4-9
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pubmed:abstractText |
Autosomal dominant osteogenesis imperfecta (OI) is a heterogeneous group of disorders. Molecular haplotypes associated with the pro alpha 2(I) gene of human type I procollagen were used for genetic linkage studies in a group of 10 families with OI. The clinical phenotypes of the families studied were those of OI type I and OI type IV. Evidence for linkage was highly suggestive in the four families with OI type IV (Z = 3.91 for theta = 0). In contrast, little or no indication for linkage was found in the six families with OI type I (Z = .055 for theta = .415). Heterogeneity between the two groups of families was highly significant (chi 2 = 11.14, P = .0008), suggesting that at least two separate gene defects may be the cause of the autosomal dominant forms of OI.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-1195397,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-13313518,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-14081488,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-4422075,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-458828,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6087329,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6097110,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6191221,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6247908,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6273867,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6280057,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6304514,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6309769,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6313757,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6360559,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6580815,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6583624,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6633649,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6651220,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6822598,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6826730,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6946461,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-6954526,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3006479-75372
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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 |
Mar
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
38
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
269-79
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:3006479-Alleles,
pubmed-meshheading:3006479-DNA,
pubmed-meshheading:3006479-DNA Restriction Enzymes,
pubmed-meshheading:3006479-Female,
pubmed-meshheading:3006479-Genes, Dominant,
pubmed-meshheading:3006479-Genetic Linkage,
pubmed-meshheading:3006479-Genetic Markers,
pubmed-meshheading:3006479-Genotype,
pubmed-meshheading:3006479-Humans,
pubmed-meshheading:3006479-Lod Score,
pubmed-meshheading:3006479-Male,
pubmed-meshheading:3006479-Osteogenesis Imperfecta,
pubmed-meshheading:3006479-Pedigree,
pubmed-meshheading:3006479-Polymorphism, Genetic,
pubmed-meshheading:3006479-Procollagen
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pubmed:year |
1986
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pubmed:articleTitle |
Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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