Resumo

ECHEVERRI ESCOBAR, J. et al. Tooth agenesis: Epidemiological, clinical and genetic analysis in patients from Antioquia. Av Odontoestomatol [online]. 2013, vol.29, n.3, pp.119-130. ISSN 2340-3152.

Introduction: Odontogenesis is a complex molecular process, open to failures during different stages of development, that may lead to alterations like tooth agenesis. Methods: An epidemiological description was made about tooth agenesis in 814 patients in the Faculty of Dentistry of the Antioquia University between 2006 and 2008, using clinical histories and panoramic X-rays, Furthermore, a family with non-syndromic tooth agenesis, was evaluated clinically and genetically to determine the segregation type and the inheritance pattern, and to identify the possible implication of the MSX1 and PAX9 genes. The analysis of those genes was valuated through Polymerase Chain Reaction (PCR), genotyping and linkage analysis. The markers D4S2285 and D4S432 for MSX1 and D14S288 and D14S70 for PAX9, were selected by their high heterozigocity index. Results: The epidemiological analysis revealed a high prevalence of agenesis in permanent dentition and in the female gender, with predilection for third molars, followed by upper lateral incisors. The genetic findings showed a possible linkage between MSX1 gene (LOD 0.97) and the anomaly. At the same time a possible random association was found between the PAX9 gene (LOD -0.28) and the anomaly in the studied family.

Palavras-chave : Tooth agenesis; hypodontia; oligodontia; PAX9; MSX1; genetic linkage.

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