Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies.

Derya Ceyhan, Zuhal Kirzioglu, Nilufer Sahin Calapoglu
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引用次数: 10

Abstract

Aim: To search for mutations on the MSX1 gene and to present a genetic basis for non-syndromic tooth agenesis in conjunction with dental anomalies in a Turkish population.

Materials and methods: The patients included in this study were otherwise healthy, with ages ranging from seven to eighteen years. Eighty-two of them had one to six teeth missing (Group I) and 26 had more than six teeth missing (Group II), except for the third molars,. The missing teeth and dental anomalies were examined clinically and radiographically. The MSX1 gene was sequenced from the blood samples of patients who consented to the study.

Results: Mutations or polymorphisms on the MSX1 gene were identified in six patients. Taurodontism was seen in patients from both groups I and II. The nucleotide changes were identified by mutation screening.

Conclusions: Performing family studies, screening other candidate genes, and investigation of interactions between genes will provide a basis for better analysis of tooth agenesis models and their association with other dental anomalies.

Abstract Image

Abstract Image

Abstract Image

土耳其非综合征性牙齿发育和其他牙齿异常儿童MSX1基因突变
目的:寻找MSX1基因的突变,并提出与土耳其人群牙齿异常相关的非综合征性牙齿发育的遗传基础。材料与方法:本研究纳入的患者均健康,年龄在7 - 18岁之间。除第三磨牙外,其中82人有1至6颗牙齿缺失(第一组),26人有6颗以上牙齿缺失(第二组)。对缺牙和牙畸形进行临床和影像学检查。MSX1基因的测序来自于同意这项研究的患者的血液样本。结果:6例患者发现MSX1基因突变或多态性。ⅰ组和ⅱ组患者均出现牛牙症。通过突变筛选鉴定核苷酸变化。结论:开展家族研究,筛选其他候选基因,研究基因之间的相互作用,将为更好地分析牙齿发育模型及其与其他牙齿异常的关系提供基础。
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