A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
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.
Mendoza
Gustavo
G
Institute for Genetic Medicine, University of Southern California, 2250 Alcazar Street, CSC-240, Los Angeles, CA 90033, USA.
Pemberton
Trevor J
TJ
Lee
Kwanghyuk
K
Scarel-Caminaga
Raquel
R
Mehrian-Shai
Ruty
R
Gonzalez-Quevedo
Catalina
C
Ninis
Vasiliki
V
Hartiala
Jaana
J
Allayee
Hooman
H
Snead
Malcolm L
ML
Leal
Suzanne M
SM
Line
Sergio R P
SR
Patel
Pragna I
PI
D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D000818:Animals; D001938:Brazil; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D005192:Family Health; D005260:Female; D020869:Gene Expression Profiling; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D051379:Mice; D008963:Molar / Q000378:metabolism; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree