A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3
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DOI：
10.1007/s00439-006-0246-6
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发表时间：
2007-01-01
期刊：
影响因子：
5.3
通讯作者：
Patel, Pragna I.
中科院分区：
文献类型：
--
作者：
Mendoza, Gustavo;Pemberton, Trevor J.;Patel, Pragna I.
釉质生成不全（AI）是一个统称，用于描述表型多样的牙釉质发育缺陷。据报道，人工智能表现出多种遗传模式，并且已经确定了几个与人工智能相关的基因座。我们在一个巴西大家庭中进行了全基因组扫描，分离出常染色体显性形式的 AI，并将一个新的基因座映射到 8q24.3。在标记 D8S2334 (146,101,309 bp) 处获得的最大多点 LOD 得分为 7.5。根据罗格斯大学联合连锁物理图谱，疾病位点位于 VNTR 标记（143,988,705 bp）和端粒（146,274,826 bp）之间的 1.9 cM (2.1 Mb) 区域。基于基因本体论和微阵列促进的基因选择，利用小鼠直系同源物在牙组织中的表达，鉴定了十个候选基因，并检查了是否存在突变。然而，没有发现致病突变。
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.