Mendoza, GustavoPemberton, Trevor J.Lee, KwanghyukScarel-Caminaga, RaquelMehrian-Shai, RutyGonzalez-Quevedo, CatalinaNinis, VasilikiHartiala, JaanaAllayee, HoomanSnead, Malcolm L.Leal, Suzanne M.Line, Sergio R. P.Patel, Pragna I.2014-05-202014-05-202007-01-01Human Genetics. New York: Springer, v. 120, n. 5, p. 653-662, 2007.0340-6717http://hdl.handle.net/11449/32262Amelogenesis 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.653-662engArtigo10.1007/s00439-006-0246-6WOS:000243000800006Acesso restrito