Análisis genético, clínico y molecular de una familia afectada con una malformación del esmalte dental / Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta

Background: Amelogenesis Imperfecta (AI) is a group of conditions where there is an abnormal formation of enamel in terms of quantity, structure and composition. AI is clinically and genetically heterogeneous, there are sex linked and autosomal versions, dominant and/or recessive, with phenotypes of hypoplastic, hypocalcified or hypomature enamel. Only recently, through clinical, genetic and molecular studies of affected families, phenotypic-genotypic correlations are being established in this group of anomalies. Aim: To carry out a genetic, clinical and molecular analysis of a Chilean family affected with an enamel malformation, which probably would correspond to Amelogenesis Imperfecta Dominant Autosomal (AIDA), of hypoplastic type, resulting from g.6395G>A mutation in the enamelin gene. Patients and Methods: A genealogical pattern was created for five generations. Five members of this family group were clinically examined, and four of them had a molecular analysis that consisted of the detection of a mutation in the enamelin gene using PCR. Results: In this family, the enamel malformation presents a dominant autosomal pattern of inheritance. The clinical examination of the group allowed a diagnosis of Amelogenesis Imperfecta, of the hypoplastic local type. However, the molecular analysis revealed that the members analyzed did not exhibit the g.6395G>A mutation reported for the enamelin gene (ENAM). Conclusions: The enamel phenotype in this family could be explained by the presence of one of four other mutations recently described in this or another gene, thereby supporting the findings of allelic heterogeneity reported in the literature.

Dispositivos para colección de saliva de las glándulas salivales mayores: resultados en sujetos normales / Assessment of devices for saliva collection from major salivary glands in groups of individuals

Background: Collection of saliva produced by the major salivary glands may be accomplished either by cannulation of the glandular ducts or by the application of specific collecting devices to the emergence area of the glandular ducts. Those procedures are complex, slow, invasive and require skilled personnel. Aim: To report the design and application of a device to collect parotid saliva (snail collector) and another device to collect saliva from the submandibular/sublingual complex. Material and methods: The saliva collection devices were tested in 40 healthy volunteers (20 male) aged 18 to 22 years old. Saliva was collected using conventional conditions, during 5 to 15 min. Results: An average of 1 to 1.5 ml of saliva was collected in the 10-15 min period from both parotid and submandibular/sublingual glands. Flow rates from parotid glands were 80 µl/min and 180 µl/min from submandibular/sublingual glands. Parotid saliva had a protein and organic material concentration twice as high than saliva from submandibular/sublingual glands. The presence of human a-amylase duplet (Mr 55 kD and 58 kD) predominated in parotid saliva, whereas saliva from submandibular/sublingual glands had other molecular markers such as the lysozyme duplet (Mr 18.5 kD and 17 kD). Conclusions: The tested devices were easily applicable, comfortable and allowed the collection of both parotid saliva and submandibular/sublingual saliva from various subjects at once, under the supervision of a single professional