牙齿发育相关基因的单核苷酸多态性(SNPs)

M. Shahid, S. Joshi, N. Alqhtani, M. Alsaidan, K. Aldossari, A. Abuderman, Mannaa Aldowsar, S. Al-Ghamdi, H. Balto, N. Al-Hammad, eep Agrawal, Altaf H. Shah, A. Ahmed, V. Dhillon
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引用次数: 3

摘要

目的:这篇综述文章的主要重点是整理关于与牙齿发育相关的各种基因的单核苷酸多态性(snp)的意义的最新知识。牙齿发育不全是一种常见的发育异常,主要表现为孤立的状况。这种异常也与许多发育综合征有关。方法:我们回顾了文献中与这种发育异常相关的许多基因的snp的证据。本综述所包含的信息仅涉及非综合征形式的牙齿发育。这种情况通常影响第三磨牙或一颗或几颗其他恒牙,但在某些情况下,其严重程度相对普遍。结果和结论:Msh同源盒1 (MSX1)、配对盒基因9 (PAX9)、轴抑制蛋白2 (AXIN2)和外胞质异常蛋白A (EDA)等基因突变已被确定与该疾病的家族形式相关。研究表明,与这些突变相关的表型表明涉及更复杂的机制。临床意义:迄今收集的证据对临床牙医具有巨大的临床意义,为临床牙医提供了全面的指导,概述了这些基因突变(snp)在各种基因中的作用,以及未来如何对患有这种疾病的患者进行临床诊断和治疗。
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Single Nucleotide Polymorphism (SNPs) in the Genes Associated with Tooth Agenesis
Objectives: The main focus of this review article was to collate up to date knowledge with regard to significance of single nucleotide polymorphisms (SNPs) in various genes associated with tooth agenesis. Failure to develop complete set of teeth also called tooth agenesis is a common developmental abnormality manifested mainly as an isolated condition. This anomaly is also associated with many developmental syndromes. Methods: We reviewed the evidence from the literature with regard to SNPs in many genes associated with this developmental anomaly. The information contained in this review deals only with non-syndromic form of tooth agenesis. This condition generally affects third molars or one or few other permanent teeth, however, in some cases its severity is relatively prevalent. Results and Conclusions: Mutations in genes such as Msh homeobox 1 (MSX1), Paired box gene 9 (PAX9), Axis inhibitor protein 2 (AXIN2) and Ectodysplasin A (EDA) have been identified that are associated with the familial form of the disease. It has been shown that the phenotypes associated with these mutations indicate the involvement of more complex mechanisms. Clinical Significance: Evidence collected so far has immense clinical significance to clinical dentists in providing comprehensive guide outlining the role of these gene mutations (SNPs) in various genes and also how the patients affected with this condition will be clinically diagnosed and managed in future.
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