Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorSantos, Maria C.L.G.
dc.creatorHart, P. Suzanne
dc.creatorRamaswami, Mukundhan
dc.creatorKanno, Claudia M.
dc.creatorHart, Thomas C.
dc.creatorLine, Sergio R.P.
dc.date2014-05-27T11:22:32Z
dc.date2016-10-25T18:24:06Z
dc.date2014-05-27T11:22:32Z
dc.date2016-10-25T18:24:06Z
dc.date2007-07-02
dc.date.accessioned2017-04-06T01:25:47Z
dc.date.available2017-04-06T01:25:47Z
dc.identifierHead and Face Medicine, v. 3, n. 1, 2007.
dc.identifier1746-160X
dc.identifierhttp://hdl.handle.net/11449/69786
dc.identifierhttp://acervodigital.unesp.br/handle/11449/69786
dc.identifier10.1186/1746-160X-3-8
dc.identifier2-s2.0-34247857785.pdf
dc.identifier2-s2.0-34247857785
dc.identifierhttp://dx.doi.org/10.1186/1746-160X-3-8
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/890978
dc.descriptionAmelogenesis 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.
dc.languageeng
dc.relationHead and Face Medicine
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectDNA
dc.subjectenamel protein
dc.subjectamelogenesis imperfecta
dc.subjectBrazil
dc.subjectcomparative study
dc.subjectenamel
dc.subjectexon
dc.subjectfamily
dc.subjectfemale
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectgenotype
dc.subjectgrowth, development and aging
dc.subjecthuman
dc.subjectincidence
dc.subjectmale
dc.subjectmetabolism
dc.subjectmutation
dc.subjectpedigree
dc.subjecttooth development
dc.subjectAmelogenesis
dc.subjectAmelogenesis Imperfecta
dc.subjectDental Enamel
dc.subjectDental Enamel Proteins
dc.subjectExons
dc.subjectFamily
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenotype
dc.subjectHumans
dc.subjectIncidence
dc.subjectMale
dc.subjectMutation
dc.subjectPedigree
dc.titleExclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta
dc.typeOtro


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