Investigation of polymorphisms in the BMP-4 gene promoting region in individuaIs with dental agenesia

Abstract

Hypodontia is the congenital absence of one to six deciduous andJor permanent teeth. This is one of the most frequent altera- tions of the human dentitÍon. Although it does not represent a problem of public health, it may cause masticatory and speech dysfunctions, as well as esthetic problems. Recent studies have showed that mutations in the gene Msxl are associatedwith hypodon- tia of second premolars and third molars in humans. The protein BMP-4 has been identified as an inductive sign ofthe epithelium in the formation of the teeth. It is produced in the dental epithelium where it regulates the expression of genes directly involved in tooth morphogenesis. The aim of this study was to investigate the presence of polymorphism in the BMP-4 gene promoting region in individuals with isolated forms of dental agenesia. Genomic DNA was obtained from buccal epithe- lial cells of 50 individuals with agenesia in second premolars or third molars and 50 control ind ivid ua ls. The BMP-4 gene prõmoting regionwas amplified by the PCR technique. The products ofpurified PCRwere submitted to automatic sequencing and did not reveal any alterations in the region ofthe. studied genet These results indicate that other genes or regions ofBMP-4must be involved in the etiology of hypodontia in humans.