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A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3
Authors:Gustavo Mendoza  Trevor J. Pemberton  Kwanghyuk Lee  Raquel Scarel-Caminaga  Ruty Mehrian-Shai  Catalina Gonzalez-Quevedo  Vasiliki Ninis  Jaana Hartiala  Hooman Allayee  Malcolm L. Snead  Suzanne M. Leal  Sergio R. P. Line  Pragna I. Patel
Affiliation:Institute for Genetic Medicine, University of Southern California, 2250 Alcazar Street, CSC-240, Los Angeles, CA 90033, USA.
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.
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