遗传性牙本质发育不全Ⅱ型致病基因的突变检测

Virulence Gene Mutation Assay in Dentinogenesis Imperfecta Type Ⅱ

目的:对遗传性牙本质发育不全Ⅱ型家系的牙本质涎磷蛋白基因启动子和非高度重复序列编码区进行突变分析,试图在基因水平说明其致病原因。方法:使用PCR技术扩增牙本质涎磷蛋白基因启动子区和非高度重复序列编码区,通过DNA直接测序方法对基因序列进行分析。结果:在牙本质涎磷蛋白启动子区和非高度重复序列编码区未检测到与疾病表型相关的特异性改变。但在牙本质涎蛋白编码区检测到不同个体之间具有多态性。结论:该遗传性牙本质发育不全Ⅱ型家系的牙本质涎磷蛋白基因启动子和非高度重复序列编码区序列未发现导致疾病的突变。

Objective： To study the location of pathogenic gene in dentinogenesis imperfecta type Ⅱ,and to analyze the mutation of DSPP promoter and DSP gene.Methods： PCR and DNA sequencing were employed to detect the possible mutations in DSPP promoter and DSP coding sequence. Results： Three single nucleotide polymorphisms（SNPs） were found in DSP coding sequence.Two were samesense SNPs and one was missense SNP.Conclusion： No mutation was found in DSPP promoter and DSP coded region of this DGI-Ⅱ family.