中华骨质疏松和骨矿盐疾病杂志Issue(4)：308-313,6.DOI:10.3969/j.issn.1674-2591.2014.04.003
锁骨颅骨发育不良家系致病基因突变及蛋白结构变化
Identification of pathogenic gene mutation and analysis of protein model in a family with cleidocranial dysplasia
陈红 1秦猛 2季海宁 1刘巧荣 3丁寅1
作者信息
- 1. 730000兰州，甘肃省人民医院口腔矫形科
- 2. 710032西安，第四军医大学口腔医学院正畸科
- 3. 710032西安，第四军医大学口腔医学院正畸科
- 折叠
摘要
Abstract
Objective To identify the RUNX2 gene mutation in one family with cleidocranial dysplasia (CCD), and to analyze protein model of the mutation of RUNX 2 gene.Methods Radiological examination was performed , and the peripheral venous blood of the patients was collected .Genomic DNA was extracted , and the RUNX2 gene was ampli-fied by polymerase chain reaction (PCR).DNA sequences were analyzed with the Blastn program .The protein structures of the mutant RUNX2 gene were predicted by Swiss-Model software and viewed in SWISS-Pdb, and RasMol Viewer .Re-sults A heterozygous missense mutation c.674G>T ( p.R225L) in exon 3 of the RUNX2 gene was detected in this family.The mutant RUNX2 gene lost some intra-molecular hydrogen bond , and electrostatic potential energy on molecular surface.Conclusion RUNX2 gene heterozygous mutations c.674G>T (p.R225L) is the molecular basis for pathogene-sis of this family .The change of amino acid sequence influences the structure of protein .关键词
锁骨颅骨发育不全/RUNX2基因/基因突变/蛋白结构Key words
cleidocranial dysplasia/RUNX2 gene/gene mutation/protein structure分类
医药卫生引用本文复制引用
陈红,秦猛,季海宁,刘巧荣,丁寅..锁骨颅骨发育不良家系致病基因突变及蛋白结构变化[J].中华骨质疏松和骨矿盐疾病杂志,2014,(4):308-313,6.
