Kavitha B, Priyadharshini Vijayashree, Sivapathasundharam B, Saraswathi T R
Department of Oral and Maxillofacial Pathology, Meenakshi Ammal Dental College and Hospital, Chennai, India.
Indian J Dent Res. 2010 Apr-Jun;21(2):270-4. doi: 10.4103/0970-9290.66646.
In oral cavity, the spectrum of diseases due to genetic alterations ranges from developmental disturbances of teeth to the pre-cancerous and cancerous lesions. Of late, significant progress has been made in the molecular analysis of tumors. With molecular genetic testing emerging as diagnostic, prognostic, and therapeutic approach, a review of genetic alterations ranging from the development of oro-facial structures to the tumors in the head and neck region are addressed in this article. The functional regulatory aspect of genes in relation to oro-facial structures are discussed separately, i.e., in relation to tooth genesis, tooth agenesis (non-syndromic, syndromic), tooth structural alterations, syndromic oro-facial defects, bone diseases, skin diseases (genodermatoses), and malignant tumors. In this literature, various genes involved in the development of the oro-facial structures and tooth in particular are discussed. The genetic basis of disorders in the tooth development (agenesis, hypodontia), tooth structural defects like amelogenesis imperfecta (AI), dentinogenesis imperfecta (DI), and oro-facial structural alterations (various syndromes) are explained.
在口腔中，由基因改变引起的疾病谱涵盖从牙齿发育障碍到癌前病变和癌性病变。近年来，肿瘤的分子分析取得了重大进展。随着分子基因检测成为一种诊断、预后和治疗方法，本文探讨了从口面部结构发育到头颈区域肿瘤的基因改变。与口面部结构相关的基因功能调控方面将单独讨论，即与牙齿发生、牙齿缺失（非综合征性、综合征性）、牙齿结构改变、综合征性口面部缺陷、骨病、皮肤病（遗传性皮肤病）和恶性肿瘤相关的方面。在这篇文献中，讨论了各种参与口面部结构尤其是牙齿发育的基因。解释了牙齿发育障碍（缺失、少牙症）、牙釉质发育不全（AI）、牙本质发育不全（DI）等牙齿结构缺陷以及口面部结构改变（各种综合征）的遗传基础。
