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Type: Artigo de periódico
Title: A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3
Author: Mendoza, G
Pemberton, TJ
Lee, K
Scarel-Caminaga, R
Mehrian-Shai, R
Gonzalez-Quevedo, C
Ninis, V
Hartiala, J
Allayee, H
Snead, ML
Leal, SM
Line, SRP
Patel, PI
Abstract: Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.
Country: EUA
Editor: Springer
Citation: Human Genetics. Springer, v. 120, n. 5, n. 653, n. 662, 2007.
Rights: fechado
Identifier DOI: 10.1007/s00439-006-0246-6
Date Issue: 2007
Appears in Collections:Unicamp - Artigos e Outros Documentos

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