Source:http://linkedlifedata.com/resource/pubmed/id/10371253
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1999-6-29
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| pubmed:abstractText |
Dentinogenesis imperfecta type III (DGI-III) is an autosomal-dominant disorder of dentin formation which appears in a tri-racial southern Maryland population known as the "Brandywine isolate". This disease has suggestive evidence of linkage to the long arm of human chromosome 4 (LOD score of 2.0) in a family presenting with both juvenile periodontitis and DGI-III. The purpose of this study was to screen a family presenting with only DGI-III to determine if this locus was indeed on chromosome 4q. Furthermore, we wanted to determine if DGI-III co-localized with dentinogenesis imperfecta type II (DGI-II), which has been localized to 4q21-q23. Therefore, a large kindred from the Brandywine isolate was identified, oral examination performed, and blood samples collected from 21 family members. DNA from this family was genotyped with 6 highly polymorphic markers that span the DGI-II critical region of chromosome 4q. Analysis of the data yielded a maximum two-point LOD score of 4.87 with a marker for the dentin matrix protein 1 (DMP1) locus, a gene contained in the critical region for DGI-II. Our results demonstrated that the DGI-III locus is on human chromosome 4q21 within a 6.6 cM region that overlaps the DGI-II critical region. These results are consistent with the hypothesis that DGI-II is either an allelic variant of DGI-III or the result of mutations in two tightly linked genes.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
D
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DMP1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Genetic Markers,
http://linkedlifedata.com/resource/pubmed/chemical/Phosphoproteins
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| pubmed:status |
MEDLINE
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| pubmed:month |
Jun
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| pubmed:issn |
0022-0345
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
78
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1277-82
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| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:10371253-Aggressive Periodontitis,
pubmed-meshheading:10371253-Alleles,
pubmed-meshheading:10371253-Chromosome Mapping,
pubmed-meshheading:10371253-Chromosomes, Human, Pair 4,
pubmed-meshheading:10371253-DNA,
pubmed-meshheading:10371253-Dentinogenesis Imperfecta,
pubmed-meshheading:10371253-Extracellular Matrix Proteins,
pubmed-meshheading:10371253-Female,
pubmed-meshheading:10371253-Genes, Dominant,
pubmed-meshheading:10371253-Genetic Linkage,
pubmed-meshheading:10371253-Genetic Markers,
pubmed-meshheading:10371253-Genotype,
pubmed-meshheading:10371253-Humans,
pubmed-meshheading:10371253-Lod Score,
pubmed-meshheading:10371253-Male,
pubmed-meshheading:10371253-Maryland,
pubmed-meshheading:10371253-Mutation,
pubmed-meshheading:10371253-Phosphoproteins,
pubmed-meshheading:10371253-Polymorphism, Genetic
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| pubmed:year |
1999
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| pubmed:articleTitle |
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q.
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| pubmed:affiliation |
Department of Pediatric Dentistry, University of Texas Health Science Center at San Antonio, 78284-7888, USA.
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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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