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Utilize este identificador para citar ou criar um link para este item: http://acervodigital.unesp.br/handle/11449/69786
Título: 
Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta
Autor(es): 
Instituição: 
  • Universidade Estadual de Campinas (UNICAMP)
  • NIH
  • National Institute for Dental and Craniofacial Research
  • Universidade Estadual Paulista (UNESP)
ISSN: 
1746-160X
Resumo: 
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 DMA 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.
Data de publicação: 
2-Jul-2007
Citação: 
Head and Face Medicine, v. 3, n. 1, 2007.
Palavras-chaves: 
  • DNA
  • enamel protein
  • amelogenesis imperfecta
  • Brazil
  • comparative study
  • enamel
  • exon
  • family
  • female
  • genetic predisposition
  • genetics
  • genotype
  • growth, development and aging
  • human
  • incidence
  • male
  • metabolism
  • mutation
  • pedigree
  • tooth development
  • Amelogenesis
  • Amelogenesis Imperfecta
  • Dental Enamel
  • Dental Enamel Proteins
  • Exons
  • Family
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Incidence
  • Male
  • Mutation
  • Pedigree
Fonte: 
http://dx.doi.org/10.1186/1746-160X-3-8
Endereço permanente: 
Direitos de acesso: 
Acesso restrito
Tipo: 
outro
Fonte completa:
http://repositorio.unesp.br/handle/11449/69786
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