牙本质涎磷蛋白变异与遗传性牙本质发育异常  

Mutation of dentin sialophosphoprotein and hereditary malformations of dentin

作　　者：朱庆林[1] 段小红[2] 余擎[1] Zhu Qinglin;Duan Xiaohong;Yu Qing(Department of Operative Dentistry and Endodontics,School of Stomatology,The Fourth Military Medical University&State Key Laboratory of Military Stomatology&National Clinical Research Center for Oral Diseases&Shaanxi Key Laboratory of Stomatology,Xi′an 710032,China;Department of Oral Biology,School of Stomatology,The Fourth Military Medical University&State Key Laboratory of Military Stomatology&National Clinical Research Center for Oral Diseases&Shaanxi Key Laboratory of Stomatology,Xi′an 710032,China)

机构地区：[1]第四军医大学口腔医学院牙体牙髓病科、军事口腔医学国家重点实验室、国家口腔疾病临床医学研究中心、陕西省口腔医学重点实验室,西安710032 [2]第四军医大学口腔医学院口腔生物学教研室、军事口腔医学国家重点实验室、国家口腔疾病临床医学研究中心、陕西省口腔医学重点实验室,西安710032

出　　处：《中华口腔医学杂志》2023年第1期17-24,共8页Chinese Journal of Stomatology

基　　金：国家自然科学基金(81170949);陕西省自然科学基础研究计划(2019JZ-33)。

摘　　要：遗传性牙本质发育异常的分类及临床表现已被广泛关注和解读, 对其遗传学基础的认识也日益深入。牙本质涎磷蛋白(dentin sialophosphoprotein, DSPP)是牙本质发育不全Ⅱ型、牙本质发育不全Ⅲ型和牙本质发育不良Ⅱ型的致病基因。本文对DSPP的突变分类及其突变后导致的蛋白转运和功能障碍进行阐述, 初步分析DSPP突变类型与临床表现的对应关系, 以期为遗传性牙本质发育异常的研究和诊治提供可借鉴的思路。The classification as well as the clinical manifestations of hereditary malformations of dentin are of great concern and have been deeply elucidated.The understanding of its genetic basis also increases progressively.Dentin sialophosphoprotein(DSPP)is the pathogenic gene of dentinogenesis imperfecta typeⅡ,dentinogenesis imperfecta typeⅢand dentin dysplasia typeⅡ.In this article,the classification of DSPP mutations as well as the resultant dysfunction of the mutant DSPP are summarized respectively and the corresponding clinical manifestations are analyzed.This work will provide a reference for the diagnosis and treatment of hereditary malformations of dentin.

关 键 词：牙体发育异常 牙本质发育不全 牙本质发育不良 牙本质涎磷蛋白 基因突变 

分 类 号：R781[医药卫生—口腔医学]