ABSTRACT
In the present study, the clinical features of a patient with autosomal recessive hypophosphatemic rickets 1 caused by dentin matrix protein 1(DMP1)gene mutation and her family members were investigated. DMP1 gene from peripheral blood was sequenced by Sanger sequencing, and the known mutation was verified among her family members and 250 healthy populations. The proband was a 42-year-old female with bone deformity of both lower limbs, bone pain, and short stature. The results of X-rays and laboratory examination were consistent with the hypophosphatemic rickets reported before. A homozygous mutation(c.2T> C)in DMP1 was identified by Sanger sequencing in the proband, her son and daughter were heterozygous for c. 2T> C.
ABSTRACT
Objective:To investigate the expression of dental matrix protein 1(DMP1)in carious human permanent teeth and its possible role during the reparative process after pulp injury.Methods:10 of noncarious third molars (NC),10 of shallow carious (SC),10 of intermediate carious (IC) and 10 of deep carious (DC) were prepared for the detection of DMP1 in odontoblasts by immunohistochemical staining. DMP1 expression in odontoblasts was analyzed by image analysis system and expressed as integral optical density (IOD).Results:DMP1 was majorly detected in cytoplasms and processes of odontoblasts and odontoblast-like cells.The IOD values in the groups of NC,SC,IC and DC were 0.265?0.018,0.309?0.021,0.678?0.031 * and 0.691? 0.033 * respectively;that in the reparative dentin in DC group was 0.856?0.045 ** ( *vs NC P