| Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p. | |
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MedLine Citation:
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PMID: 7677156 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Atrioventricular canal defects (AVCD) constitute the predominant congenital heart defect in Down syndrome. For this reason, a candidate gene involved in atrioventricular canal development was previously searched and excluded in dominant pedigrees of AVCD, using linkage analysis of polymorphisms from chromosome 21. Because of the striking association between 8p deletion and AVCD, a search for an AVCD gene was carried out in two pedigrees of individuals with autosomal dominant AVCD using a set of DNA markers of the 8pter-->q12 region. These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two-point lod scores were significantly negative for all markers at penetrance levels of 90% and 50%. Multipoint analysis excluded the region covered by the markers LPL-D8S262 and 30 cM to either side of this area. This result corroborates heterogeneity of this heart defect and indicates that the genetic basis of familial AVCD is different from AVCD associated to either trisomy 21 or 8p deletion. |
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Authors:
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F Amati; A Mari; R Mingarelli; M Gennarelli; M C Digilio; A Giannotti; B Marino; G Novelli; B Dallapiccola |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics Volume: 57 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1995 Jul |
Date Detail:
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Created Date: 1995-10-19 Completed Date: 1995-10-19 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 483-8 Citation Subset: IM |
Affiliation:
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Cattedra di Genetica Umana, Università Tor Vergata, Rome, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Chromosomes, Human, Pair 8* Female Genes, Dominant* Genetic Markers Heart Defects, Congenital / genetics* Humans Linkage (Genetics) Lod Score Male Pedigree Polymorphism, Genetic |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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