Witkop C J, Keenan K M, Cervenka J, Jaspers M T
Department of Oral Pathology and Genetics, School of Dentistry, University of Minnesota, Minneapolis.
Am J Med Genet Suppl. 1988;4:85-97. doi: 10.1002/ajmg.1320310513.
Two models concerning morphometric traits occurring frequently in aneuploidy states posit, respectively, 1) that they reflect the expression of specific major oligogenes for that trait on the chromosome involved or 2) that they result from a generalized disruption of developmental homeostasis. In contrast to previous studies that have investigated variations in morphometric traits in a single aneuploidy state, this study investigates a single morphometric trait, taurodontism, as it occurs in otherwise normal individuals, in nonchromosomal syndromes, and in aneuploidy syndromes to determine whether the trait best fits the oligogene or the disrupted developmental homeostasis model. Taurodontism is diagnosed from dental radiographs. It is an extreme variation in tooth form seen in multirooted teeth in which the bifurcation or trifurcation of the roots is displaced toward the apex of the root, resulting in increased size of the pulp chamber. The point of furcation, and consequently the size of the pulp chamber, is a quasicontinuously distributed trait. The results indicate that taurodontism most likely is the result of disrupted developmental homeostasis.
关于非整倍体状态中频繁出现的形态计量学特征,有两种模型,分别认为:1)它们反映了相关染色体上该特征的特定主要寡基因的表达;2)它们是发育稳态普遍破坏的结果。与之前研究单一非整倍体状态下形态计量学特征变化的研究不同,本研究调查了一种单一的形态计量学特征——牛牙样变,该特征出现在其他方面正常的个体、非染色体综合征个体以及非整倍体综合征个体中,以确定该特征最符合寡基因模型还是发育稳态破坏模型。牛牙样变通过牙科X光片诊断。它是多根牙中牙齿形态的一种极端变异,其中牙根的分叉或三叉向根尖移位,导致牙髓腔增大。分叉点以及牙髓腔的大小是一种准连续分布的特征。结果表明,牛牙样变很可能是发育稳态破坏的结果。