遗传性牙本质发育异常的临床及相关基础研究.docVIP

第四军医大学硕士学位论文 Clinical and Related Basic Research for Hereditary Dentinogenesis Imperfecta Candidate for master: Liu Fen Supervisor: Wang Xiaojing Tutor:Duan Xiaohong Department of Pediatric Dentistry, stomatological hospital, Fourth Military Medical University, Xi’an 710032, China Abstract Key words：dentinogenesis imperfecta II; Dentin dysplasia type I; DSPP; mutation; Single-nucleotide polymorphisms Hereditary dentinogenesis imperfecta is a common genetic disease for human beings. The abnormalities usually locate in mesoderm or the dental papilla with a prevalence of about 1/10000-1/60000. Shields divided the hypoplasia of dentin into two types: dentinogenesis with 3 subtypes and dentin dysplasia with 2 subtypes. This study mainly focused on the dentinogenesis imperfecta type II (DGI-II) and dentin dysplasia type I (DD-I). DGI-II, also called as hereditary opalescent dentin, is an autosomal dominant genetic disease with a 100% penetrance and a 1/6000-1/8000 prevalence. It could be observed both in primary dentition and permanent dentition with no gender difference. DGI patients generally exhibit a dental developmental disorder without any systematic disease such as skeletal dysplasia. The dental disorder is usually noted as an amber or yellowish-brown small crown with exfoliate enamel in addition with severs abrasion. DD-I is also an autosomal dominant genetic disease; its prevalence is 1/100000 while penetrance is less than 100%. No obvious tooth morphology or crown colour changes -6- 第四军医大学硕士学位论文 could be observed except short crown and shadow image in X-ray radiograph might be detected without any caries,and other unkown causes. In 2001 Zhang et al found that it is DSPP gene that caused DGI-II. Although no article was published on the relationship between DSPP and DD-I, DSPP is still a critical candidate gene for DD-I. Up till now more than 20 mutant sites have been reported in DSPP and the mutant sites vary between different nationalities, different families an