牙本质磷蛋白基因突变和序列多态性分析  

Analysis of mutation and nucleotide polymorphism of DPP

作　　者：王英[1] 张莹[1] 史俊南[1] 

机构地区：[1]第四军医大学口腔医学院,陕西西安710032

出　　处：《牙体牙髓牙周病学杂志》2006年第6期323-326,共4页Chinese Journal of Conservative Dentistry

摘　　要：目的:检测牙本质磷蛋白基因在牙本质发育不全Ⅱ型患者中是否存在突变,并对其序列多态性进行分析。方法:采用PCR方法扩增牙本质磷蛋白基因编码区,通过DNA直接测序方法对其核苷酸序列进行分析。结果:在牙本质磷蛋白基因序列中未发现与疾病相关的特异性改变,但检测到该基因的核苷酸序列在不同个体间具有多态性,存在部分核苷酸的缺失以及广泛的单核苷酸多态现象。结论:牙本质磷蛋白基因在牙本质发育不全Ⅱ型患者中不存在突变,但牙本质磷蛋白基因序列具有多态性。AIM： To investigate if there are disease - specific mutations within the dentin phosphoprotein in two dentinogenesis imperfecta type Ⅱ families,and analyse the nucleotide polymorphism in DPP region. METHODS： The DPP segments were amplified by PCR, DNA sequencing were employed to detect the mutation of DPP. RESULTS： No disease - specific mutation was found in DPP. However some nucleotide polymorphisms were detected in DPP region in different individuals and in dud deletion of some nucleotides and many single nucleotide polymorphisms. CONCLUSION： DPP has no disease - specific mutation in patients with dentinogenesis imperfecta type Ⅱ. The DNA sequences of DPP present polymorphism in different individuals.

关 键 词：牙本质磷蛋白 单核苷酸多态 

分 类 号：Q754[生物学—分子生物学]