Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197645
Type: Artigo de periódico
Title: Exclusion Of Known Gene For Enamel Development In Two Brazilian Families With Amelogenesis Imperfecta.
Author: Santos, Maria C L G
Hart, P Suzanne
Ramaswami, Mukundhan
Kanno, Cláudia M
Hart, Thomas C
Line, Sergio R P
Abstract: Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.
Subject: Amelogenesis
Amelogenesis Imperfecta
Brazil
Dna
Dental Enamel
Dental Enamel Proteins
Exons
Family
Female
Genetic Predisposition To Disease
Genotype
Humans
Incidence
Male
Mutation
Pedigree
Rights: aberto
Identifier DOI: 10.1186/1746-160X-3-8
Address: http://www.ncbi.nlm.nih.gov/pubmed/17266769
Date Issue: 2007
Appears in Collections:Unicamp - Artigos e Outros Documentos

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