携带RUNX2基因突变的人牙囊细胞的分离培养及鉴定

Identification of human dental follicle cells with RUNX2 gene mutation

目的:研究携带RUNX2基因突变位点的人牙囊细胞的分离、鉴定及意义。方法:收集颅骨锁骨发育不良(cleidocranial dysplasia,CCD)患者,鉴定其致病基因RUNX2的突变位点,通过离体培养CCD患者的未萌牙牙囊细胞,检测其携带的基因突变位点,鉴定RUNX2+/m牙囊细胞。结果:全血基因组测序结果发现,患者RUNX2基因第2外显子插入TG突变,该突变型为c.309_310insTG,成功分离培养及鉴定RUNX2+/m牙囊细胞,并发现RUNX2基因突变减少了牙囊细胞中此蛋白的表达水平。结论:成功分离培养携带RUNX2基因突变位点的人牙囊细胞,为进一步研究RUNX2基因在牙囊及牙齿萌出中的作用提供实验模型。

Objective：To obtain human dental follicle cells with RUNX2 gene mutation.Methods：Patients with cleidocranial dysplasia were collected,and RUNX2 gene mutation was identified.The dental follicle cells were cultured from unerupted dental follicle in vitro,and the same mutation site was identified.Results：The novel insertion mutation was identified as c.309_310insTG in exon 2 of RUNX2 gene by genome detection with whole blood,and the dental follicle cells with the same mutation were successfully cultured and identified.The expression of RUNX2 was decreased in RUNX2＋/m dental follicle cells.Conclusions：Human dental follicle cells with RUNX2 mutation were successfully cultured and identified,and it contributes to the further function study of RUNX2 gene during tooth eruption.