Ceyhan Derya, Kirzioglu Zuhal, Calapoglu Nilufer Sahin
Department of Pediatric Dentistry, Faculty of Dentistry, Süleyman Demirel University, Isparta, Turkey.
Department of Medical Biology, Faculty of Medicine, Süleyman Demirel University, Isparta, Turkey.
Indian J Dent. 2014 Oct;5(4):172-82. doi: 10.4103/0975-962X.144717.
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.
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.
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.
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.
寻找MSX1基因的突变情况，并为土耳其人群中伴有牙齿异常的非综合征性牙齿发育不全提供遗传基础。
本研究纳入的患者身体健康，年龄在7至18岁之间。其中82人有1至6颗牙齿缺失（第一组），26人有超过6颗牙齿缺失（第二组），第三磨牙除外。对缺失牙齿和牙齿异常情况进行了临床和影像学检查。从同意参与研究的患者血液样本中对MSX1基因进行测序。
在6名患者中鉴定出MSX1基因的突变或多态性。第一组和第二组患者中均发现了牛牙症。通过突变筛查确定了核苷酸变化。
开展家系研究、筛查其他候选基因以及研究基因之间的相互作用，将为更好地分析牙齿发育不全模型及其与其他牙齿异常的关联提供依据。
