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最近,牙本质疾病的进展非常迅速。这些疾病主要分为2类,并带有不同的亚型。一类为牙本质发育异常(dentin dysplasia,DD)Ⅰ型和Ⅱ型,另一类为牙本质发育不全(dentinogenesis imperfecta,DGI)Ⅰ型、Ⅱ型和Ⅲ型。遗传连锁分析证明了DD-Ⅱ、DGI-Ⅱ和DGI-Ⅲ的关键位点位于4号染色体长臂上,这些位点包括了分泌型焦磷酸蛋白(SPP1)、骨唾液酸蛋白(BSP)、细胞外基质磷酸化糖蛋白(MEPE)、牙本质基质蛋白1(DMP1)和牙本质唾液酸焦磷酸蛋白(DSPP)基因。目前,只有DSPP的突变被证实。现将最新进展做一综述。
Recently, dentin diseases have progressed very rapidly. These diseases are mainly divided into two categories, with different subtypes. One type is dentin dysplasia (DD) type I and type II, the other is dentinogenesis imperfecta (DGI) type I, type II and type III. Genetic linkage analysis demonstrated that the key sites of DD-II, DGI-II and DGI-III are located on the long arm of chromosome 4. These sites include the secretory pyrophosphate protein (SPP1), bone sialoprotein (BSP) Extracellular matrix phosphorylated glycoprotein (MEPE), dentin matrix protein 1 (DMP1) and dentin sialic acid pyrophosphate protein (DSPP) genes. Currently, only mutations in DSPP are confirmed. Now make a review of the latest developments.