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首页> 外文期刊>Cellular and molecular biology >Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth
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Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth

机译：PAX9和MSX1基因变体对低分发，齿尺寸和先天性牙齿类型的影响

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摘要

Tooth agenesis, affecting up to 20% of human population, is one of the most common congenital disorder. The most frequent form of tooth agenesis is known as hypodontia, which is characterized by the absence of one to five permanent teeth excluding third molars. It was considered that hypodontia is especially related with gene mutations which play role in tooth formation. Additionally mutations in PAX9 and/or MSX1 have been identified as the defects responsible for missing permanent molars and second premolars. In some studies it was also found that PAX9 and MSX1 gene mutations may change tooth size. Therefore in this study all of these factors were investigated. Thirty one patients and 30 controls were enrolled to the study. Information about tooth sizes and type of congenitally missing teeth were collected. MSX1 and PAX9 gene mutations were investigated by direct sequencing. Results were evaluated statistically. As a result, 22 variations were detected in PAX9 in which 18 of them are novel. In addition, 7 variations were found in MSX1 in which 5 of them are novel and one of them lead to amino acid change. Statistically significant relations were found between detected variations and tooth sizes. Any relation between mutations and type of congenitally missing teeth were not detected. In conclusion, especially new mutations which may cause hypodontia, effect tooth size and type of congenitally missing teeth, should be investigated with other researchers for clarifying the mechanism.
机译：牙齿刺激，影响高达20％的人口，是最常见的先天性疾病之一。最常见的形式的牙齿刺激被称为低分发性，其特征在于不存在排除第三臼齿的一到五个永久性的。认为低钠蛋白与在牙齿形成中起作用的基因突变特别相关。另外，PAX9和/或MSX1中的突变已被鉴定为负责缺失永久性臼齿和第二初前的缺陷。在一些研究中，还发现PAX9和MSX1基因突变可以改变齿尺寸。因此，在这项研究中，研究了所有这些因素。三十一名患者和30名对照均注册研究。收集有关牙齿尺寸和牙齿的类型的信息。通过直接测序研究MSX1和PAX9基因突变。结果在统计上进行评估。结果，在PAX9中检测到22个变化，其中18个是新颖的。此外，在MSX1中发现了7个变异，其中5个是新颖的，其中一个导致氨基酸变化。在检测到的变化和牙齿尺寸之间发现了统计上显着的关系。未检测到突变之间的任何关系和先天性缺失的牙齿的类型。结论，应当与其他研究人员一起调查可能导致低分发，效果牙齿尺寸和牙齿的牙齿的新突变，以澄清机制。

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