A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

作者：Mendoza Gustavo; Pemberton Trevor J; Lee Kwanghyuk; Scarel Caminaga Raquel; Mehrian Shai Ruty; Gonzalez Quevedo Catalina; Ninis Vasiliki; Hartiala Jaana; Allayee Hooman; Snead Malcolm L; Leal Suzanne M; Line Sergio R P; Patel Pragna I^*

来源：Human Genetics, 2007, 120(5): 653-662.

DOI：10.1007/s00439-006-0246-6

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.

• 出版日期2007-1
• 单位河北医科大学