The genetics of human tooth agenesis: New discoveries for understanding dental anomalies
The genetics of human tooth agenesis: New discoveries for understanding dental anomalies
复制标题
DOI：
10.1016/s0889-5406(00)70173-9
复制
发表时间：
2000-06-01
影响因子：
3
通讯作者：
Vastardis, H
中科院分区：
文献类型：
--
作者：
Vastardis, H
近年来，遗传学在理解牙齿异常（如牙齿发育不全）方面的重要作用已得到越来越多的认识。由于对这种情况的原因缺乏任何真正的了解，导致我们使用人类分子遗传学方法来识别干扰正常牙齿发育的基因。我们报告了一种可以用于研究人类牙齿发育的潜在原因的策略，从一个具有清晰可识别和明确定义的牙齿发育形式的单一大家族开始，我们已经确定了一个影响第二前磨牙和第三磨牙形成的缺陷基因，使用“家族研究”方法，证据显示其他遗传缺陷也有助于牙齿发育的广泛表型变异。鉴定牙齿发育不全或其他牙齿异常家庭的基因突变将使临床前诊断和改进正畸治疗成为可能。
The important role of genetics has been increasingly recognized in recent years with respect to the understanding of dental anomalies, such as tooth agenesis, The lack of any real insight into the cause of this condition has led us to use a human molecular genetics approach to identify the genes perturbing normal dental development. We are reporting a strategy that can be applied to investigate the underlying cause of human tooth agenesis, Starting with a single large family presenting a clearly recognizable and well-defined form of tooth agenesis, we have identified a defective gene that affects the formation of second premolars and third molars, With the use of " the family study" method, evidence is produced showing that other genetic defects also contribute to the wide range of phenotypic variability of tooth agenesis. Identification of genetic mutations in families with tooth agenesis or other dental anomalies will enable preclinical diagnosis and permit improved orthodontic treatment.