Abstract:

Abstract： Objective The aim of the present study was to detect gene mutations of a familial non-syndromic oligodontia to provide insight into the role of AXIN2 in oligodontia phenotypes. Methods This research has been done in Central Laboratory of School of Stomatology，China Medical University. We investigated 17 individuals from a large three-generation Chinese family with non-syndromic oligodontia. They accepted to cooperate and signed the informed consent form. The experimental protocol was approved by the Ethical Review Committee of School of Stomatology， China Medical University. Genomic DNA was isolated from blood samples of the family．PCR primers for AXIN2 were designed with the Primer Premier 5.0 software. Purified PCR products were bi-directly sequenced with a 3730 DNA Analyzer. Results The non-syndrome oligodontia in the family was inherited in an autosome-dominant manner. One known missense mutation c.148C>T（rs2240308） that may have contributed to structural and functional changes of proteins was present in the AXIN2 coding region and three single nucleotide polymorphism （SNP）， including two known SNP c.1201+71（rs8078753）， c.1201+100 （rs56248738） and one new SNP c.1201+100. Conclusion These data suggested a possible relationship between non-syndromic oligodontia and the SNPs of AXIN2 gene．

Key words: non-syndromic oligodontia, AXIN2, single nucleotide polymorphism （SNP）

摘要：

目的 检测一非综合征型多数牙齿先天缺失家系的AXIN2基因，探讨其与该家系成员多数牙齿先天缺失的关系。 方法 本研究于2011年3月至2013年3月在中国医科大学口腔医学院中心实验室完成。对一非综合征型多数牙齿先天缺失家系3代成员共17人，在患者和家属知情同意及中国医科大学口腔医学院伦理委员会批准的前提下，提取其外周静脉全血基因组DNA，用Primer Premier 5.0软件设计引物，聚合酶链式反应（PCR）方法扩增AXIN2基因全部外显子后，纯化PCR产物，应用3730 DNA序列分析仪双向测序，结合系谱图进行分析。 结果 该非综合征型多数牙齿先天缺失家系的临床表现符合常染色体显性遗传规律；AXIN2基因测序结果显示：存在1个与牙齿先天缺失相关的错义突变位点c.148C>T（rs2240308），以及3个单核苷酸多态（SNP）位点c.1201+71（rs8078753）、c.1201+82、c.1201+100（rs56248738），其中c.1201+82为新发现的SNP位点。 结论 该家系多数牙齿先天缺失可能与AXIN2基因的多个SNP位点有关。

关键词: 非综合征型牙齿先天缺失, AXIN2 基因, 单核苷酸多态