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
Institute for Genetic Medicine, University of Southern California, 2250 Alcazar Street, CSC-240, Los Angeles, CA 90033, USA.
Hum Genet. 2007 Jan;120(5):653-62. doi: 10.1007/s00439-006-0246-6. Epub 2006 Sep 21.
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.
牙釉质发育不全（AI）是一个通用术语，用于描述牙釉质发育缺陷的多种表型形式。据报道，AI表现出多种遗传模式，并且已经确定了几个与AI相关的基因座。我们对一个患有常染色体显性形式AI的巴西大家庭进行了全基因组扫描，并将一个新的基因座定位到8q24.3。在标记D8S2334（146,101,309 bp）处获得了最大多点LOD分数7.5。根据罗格斯综合连锁-物理图谱，疾病基因座位于一个1.9 cM（2.1 Mb）的区域内，在一个VNTR标记（位于143,988,705 bp）和端粒（146,274,826 bp）之间。基于基因本体论和利用小鼠同源基因在牙齿组织中的表达通过微阵列辅助进行基因选择，鉴定出了10个候选基因，并检测了是否存在突变。然而，未发现致病突变。
