| Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. | |
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MedLine Citation:
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PMID: 9634519 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Multiple synostoses syndrome is an autosomal dominant disorder characterized by premature onset of joint fusions, which initially affect the interphalangeal joints, by characteristic facies, and by deafness. We performed linkage analysis on a large Hawaiian family with multiple synostoses syndrome. Because another autosomal dominant disorder, proximal symphalangism, shares some clinical symptoms with multiple synostoses syndrome and has been linked to markers at loci at chromosome 17q21-22, we tested the hypothesis that multiple synostoses syndrome is linked to the same chromosomal region. Using polymorphic markers from the proximal symphalangism interval, we conducted linkage analysis and showed that the multiple synostoses-syndrome phenotype is linked to the same chromosomal region. A maximum LOD score of 3.98 at recombination fraction of .00 was achieved for the marker at locus D17S787. Further genetic analysis identified individuals with recombinant genotypes, allowing localization of the disease gene within the interval D17S931-D17S792, a 16-cM region. These data provide evidence that multiple synostoses syndrome and proximal symphalangism may be allelic disorders. |
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Authors:
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D Krakow; K Reinker; B Powell; R Cantor; M A Priore; A Garber; R S Lachman; D L Rimoin; D H Cohn |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of human genetics Volume: 63 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1998 Jul |
Date Detail:
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Created Date: 1998-08-13 Completed Date: 1998-08-13 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 120-4 Citation Subset: IM |
Affiliation:
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Ahmanson Department of Pediatrics, University of California Los Angeles, School of Medicine, Los Angeles, CA, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Bone and Bones / abnormalities, radiography Chromosomes, Human, Pair 17 / genetics* Female Genes, Dominant / genetics Genetic Markers / genetics Genotype Humans Joints / abnormalities Linkage (Genetics) / genetics* Lod Score Male Pedigree Synostosis / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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HD 01205/HD/NICHD NIH HHS; HD-22657/HD/NICHD NIH HHS; RSDP-HD0084908/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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