Hansen Lars, Kreiborg Sven, Jarlov Henrik, Niebuhr Erik, Eiberg Hans
Department of Cellular and Molecular Medicine and The Wilhelm Johannsen Center for Functional Genome Research, The Panum Insitute, University of Copenhagen, Blegdamsvej 3b, DK 2200 Copenhagen N, Denmark.
Eur J Oral Sci. 2007 Aug;115(4):330-3. doi: 10.1111/j.1600-0722.2007.00457.x.
Tooth development is under strict genetic control. During the last decade, studies in molecular genetics have led to the identification of gene defects causing the congenital absence of permanent teeth. Analyses of PAX9 and MSX1 in nine families with hypodontia and oligodontia revealed one new PAX9 mutation. A LOD score of Z = 1.8 (theta = 0.0) was obtained for D14S75 close to PAX9 in one three-generation family, and sequencing of the gene identified the nonsense mutation c.433C>T. The mutation results in a truncated PAX9 protein containing the paired domain region as a result of the Q145X stop mutation. The family showed a marked phenotypic variability in the number of missing teeth, ranging from 2 to 15 missing teeth. The highest frequency of missing teeth was found for second molars followed by second premolars.
牙齿发育受到严格的基因控制。在过去十年中，分子遗传学研究已导致鉴定出导致恒牙先天性缺失的基因缺陷。对九个牙量减少和少牙畸形家族中的PAX9和MSX1进行分析，发现了一个新的PAX9突变。在一个三代家族中，靠近PAX9的D14S75获得了Z = 1.8（θ = 0.0）的连锁对数计分，对该基因进行测序鉴定出无义突变c.433C>T。该突变由于Q145X终止突变导致产生一种截短的PAX9蛋白，其含有配对结构域区域。该家族在缺失牙数量上表现出明显的表型变异性，范围从2颗到15颗缺失牙。第二磨牙缺失的频率最高，其次是第二前磨牙。
