Safari Shiva, Ebadifar Asghar, Najmabadi Hossien, Kamali Koorosh, Abedini Seyedeh Sedigheh
Tehran, Iran.
Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Department of Orthodontic, Faculty of Dentistry, Shahid Behehsti University of Medical Sciences, Tehran, Iran.
Avicenna J Med Biotechnol. 2020 Oct-Dec;12(4):236-240.
Tooth agenesis is one of the most common developmental anomalies in human and the main reasons for its occurrence are still unknown. Mutations of several genes such as , , , and have been reported which are associated with non-syndromic tooth agenesis. However, , and are commonly reported in the literature. Hence, the aim of this study was to investigate the mutations of these genes in 4 Iranian families with non-syndromic tooth agenesis.
DNA extractions from peripheral blood cells of patients with non-syndromic tooth agenesis from 4 unrelated Iranian families were performed by salting out method, and the candidate genes were amplified then followed by Sanger sequencing method.
One missense variant (rs4904210) and 4 Single Nucleotide Polymorphisms (SNPs) (rs2236007, rs12883298, rs12882923 and rs12883049) were found in gene. Five variants (rs149370601, rs8670, rs186861426 and rs774949973) including a missense variant (rs36059701) were detected in gene and no variants were found in gene.
All variants were analyzed based on bioinformatics websites and Iranian gene databases, and as a result, it was revealed that variants of , and may not play a role in non-syndromic tooth agenesis among Iranian cases.
牙齿发育不全是人类最常见的发育异常之一，其发生的主要原因仍不清楚。已经报道了几个基因的突变，如、、、和与非综合征性牙齿发育不全有关。然而，、和在文献中报道较为常见。因此，本研究的目的是调查这几个基因在4个患有非综合征性牙齿发育不全的伊朗家庭中的突变情况。
采用盐析法从4个不相关的患有非综合征性牙齿发育不全的伊朗家庭患者的外周血中提取DNA，然后对候选基因进行扩增，接着采用桑格测序法。
在基因中发现了1个错义变异（rs4904210）和4个单核苷酸多态性（SNP）（rs2236007、rs12883298、rs12882923和rs12883049）。在基因中检测到5个变异（rs149370601、rs8670、rs186861426和rs774949973），其中包括1个错义变异（rs36059701），而在基因中未发现变异。
所有变异均根据生物信息学网站和伊朗基因数据库进行分析，结果显示，在伊朗病例中，、和的变异可能与非综合征性牙齿发育不全无关。
