口腔疾病防治2016，Vol.24Issue(12)：706-710,5.DOI:10.12016/j.issn.2096-1456.2016.12.005
单纯性多数牙缺失家系的AXIN2基因突变分析
Analysis of AXIN2 gene mutations in a family with isolated oligodontia
摘要
Abstract
Objective To investigate the mutational characteristics of AXIN2 gene in a family affected by non⁃syn⁃dromic oligodontia and to provide a molecular basis for studying the pathogenesis of oligodontia. Methods A family of different descents with oligodontia, and some unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from blood samples. Mutation analysis was performed by amplifying AXIN2 exons as well as their exon⁃intron boundaries and sequencing the products. Results DNA sequencing of AXIN2 gene revealed 3 mutations in the 2 pa⁃tients with oligodontia:a homozygotic silent mutation c. Of which 1 mutation 365A>G (p.Pro455=) was in exon 3, and 2 mutations c.956+16A>G(Ⅱ⁃1:homozygosis;Ⅲ⁃1:heterozygosis) plus c.1200+71A>G (homozygosis) were in in⁃tron, which were possibly contributed to the structural and functional changes of proteins. Meanwhile, the heterozygotic mutations (c.1365A>G and c.1200+71A>G) were found in proband's mother (Ⅱ⁃2). Conclusion Our finding sug⁃gests the c.956+16A>G, c.1365A>G and c.1200+71A>G mutations of AXIN2 may be responsible for oligodontia phenotype in this Chinese family, certainly, an understanding of the exact function of AXIN2 in odontogenesis requires further detailed analysis of each stage of this process.关键词
多个牙缺失/AXIN2/基因多态性/家系/基因突变Key words
Oligodontia/AXIN2/Gene polymorphism/Pedigree/Gene mutation分类
医药卫生引用本文复制引用
秦晗,徐宏志,龚永庆..单纯性多数牙缺失家系的AXIN2基因突变分析[J].口腔疾病防治,2016,24(12):706-710,5.基金项目
国家自然科学基金 （）
