遗传性牙本质发育不全Ⅱ型的疾病基因研究进展

Advances on the pathogenesis gene of the dentinogenesis imperfecta typeⅡ.

遗传性牙本质发育不全Ⅱ型(dentinogenesis imperfecta,typeⅡ,DG I-Ⅱ)是一种常染色体显性遗传病,疾病基因定位于人类染色体4q21,目前的研究发现患者牙本质唾液酸焦磷酸蛋白基因(dentin sialophosphoprote in,DSPP)有突变,但存在遗传异质性。笔者对DG I-II疾病候选基因及DSPP的突变进行了综述。

Dentinogenesis imperfecta type Ⅱ is an autosomal dominant inherited disease. A pathogenesis gene has been located on human chromosome 4q21. At present, the mutations of DSPP are one of the reasons of DGI -Ⅱ , however, there are some date demonstrating genetic heterogenesis potentially. The authors reviewed the candidate genes of this disease and the mutations of DSPP.