Screening for mutations and polymorphisms of candidate genes on dental malformations of patients with cleft lip and palate

Abstract

Cleft lip and palate is a common craniofacial anomaly in humans, and can affected individuals with syndrome associated or cleft isolated. The etiology of cleft lip and palate is complex, with the contribution of genetic and environmental components. Some authors consider cleft lip and palate as part of a phenotype, and suggest that additional clinical features such as the presence of dental anomalies could be used for a better description of the individual phenotype in genetic research. Malformations affect dental enamel at different intensities, promoting since the deficiency in the formation to defects in the mineral and protein content. The enamel development involves the expression of multiple genes required to control the complex process of mineralization. Mutations in the genes of enamel proteins and proteases are associated with dental malformation. The aim of this study is to investigate the occurrence of mutations and polymorphisms, including SNPs in coding regions and splicing defects of candidate genes in the formation of enamel in patients with cleft lip and palate. The saliva of 120 patients will be collected for analysis. The extraction of genomic DNA from saliva, followed by PCR and direct sequencing will be performed. Each mutation and / or polymorphisms identified in sequencing will be confirmed by repeating the reaction in a new PCR product. After collection, the data will be analyzed by means of graphs and tables, and used the chi-square test (x2) between groups within the same assay. If necessary other tests may be applied. The significance level of 5% for the differences will be considered statistically significant. (AU)