颅骨锁骨发育不全患者RUNX2基因突变检测——附1例报告

目的：研究颅骨锁骨发育不全（CCD）患者的RUNX2基因突变。方法：对1例患者进行全身健康状况及口腔专科检查，明确诊断为颅骨锁骨发育不全。提取患者全血基因组DNA，PCR扩增RUNX2基因，BLAST同源序列分析，检测基因突变位点。体外分离培养患者来源的牙囊细胞及正常对照牙囊细胞，cDNA测序验证基因突变。结果：患者RUNX2基因第2外显子插入TG突变，牙囊细胞cDNA测序结果相同，该突变型为c．309_310insTG。结论：成功发现了RUNX2基因新致病突变，补充了国内外CCD致病基因的突变位点数据库。

Mutations in the RUNX2 gene in a patient with Cleidocranial Dysplasia.

Objective： To study the RUNX2 gene mutation in a patient with cleidocranial dysplasia （CCD）. Method： Examination was carried out over the oral cavity and the entire body, and the patient was diagnosed as CCD. Genomic DNA was extracted from whole blood, and the RUNX2 gene was amplified by PCR from genomic DNA. Mutations were analyzed using BLAST nucleotide program. Besides, dental follicle cells from both CCD patient and control group were cultured, cD- NA sequence was analyzed to confirm the mutation. Result： We found a novel insertion mutation of TG in the exon 2. And the same mutation was found in dental follicle cells cDNA too （c.309 310insTG）. Conclusion： We successfully found a novel mutation of RUNX2, which supplemented the gene mutation database of CCD.