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 type Ⅱ, dentinogenesis imperfecta type Ⅲ and dentin dysplasia type Ⅱ. 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.
Humans ; Dentinogenesis Imperfecta/pathology* ; Mutation ; Extracellular Matrix Proteins/genetics* ; Phosphoproteins/genetics* ; Sialoglycoproteins/genetics* ; Dentin/pathology*

OBJECTIVETo investigate the linkage between dentinogenesis imperfecta type II and chromosome 4q21 in a Tianjin-Tanggu family of the Hui nationality.

METHODSBlood samples were collected from 13 family members. DNAs were analyzed with 8 STRP markers (D4S2915, D4S2932, GATA62A11, D4S2409, DSP STRP, SPP1 STRP, D4S1563, D4S1544) using fluorescence-based PCR. The linkage between eight markers on chromosome 4q21 and dentinogenesis imperfecta type II locus was tested respectively by lod score analysis.

RESULTSGenotype and haplotype were acquired. Genetic linkage analysis demonstrated the maximum lod score of eight STRPs were all larger than zero, in which five of them were larger than 1.

CONCLUSIONThe locus of dentinogenesis imperfecta type II in Chinese family is located on human chromosome 4q21, which indicated that the locus of Chinese Hui nationality should be the same as that of other reported European or American family.

Chromosome Mapping ; Chromosomes, Human, Pair 4 ; genetics ; DNA ; genetics ; Dentinogenesis Imperfecta ; genetics ; pathology ; Family Health ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Microsatellite Repeats ; Pedigree ; Polymerase Chain Reaction