Investigation of promoter region polymorphisms in the LEF 1 gene in individuals with hypodontia / Investigação de polimorfismos na região promotora do gene LEF 1 em individuos com agenesia dental

AUTOR(ES)
DATA DE PUBLICAÇÃO

2003

RESUMO

Numerous tenns have been used to describe congenital missing teeth. Hypodontia denotes congenital absence of one or a few teeth in the primary and/or permanent dentition. Agenesis of numerous teeth, commonly associated with specific syndromes and/or severe systemic abnornalities is classified as oligodontia. Anodontia, an extreme expression of oligodontia indicates total absence of dental structures. The latter has been reported in the most severe fonns of ectodermal dysplasia. The hypodontia is one of the most frequent alterations of the human dentition. Although it does not represent a public health problem, it may cause both speech and masticatory dysfunction as well as aesthetic problems. Recent work in cats have shown that ablation of Lef 1 gene causes complete loss of teeth and interferes with the development of other structures formed by epithelial-mesenchymal interaction. The aim of this work was to investigate the presence of polymorphisms/mutations in the promoter region of the LEF 1 gene in individuals with tooth agenesis. DNA was obtained from epithelial cells of the buccal mucosa of 38 individuals with different patterns of hypodontia in seconds premolars, wisdom teeth or incisors, and 39 individuaIs control. The promoter region of the LEF 1 gene was amplified by PCR technique. The PCR products were submitted to SSCP technique and did not revel any alterations in that region of the gene studied. This result indicated that alterations in this region of the LEF 1 gene in humans must have a highly selective effect on dentition, and other regions of this gene as well as other genes may be involved in the aetiology of hypodontia in humans

ASSUNTO(S)

morfogenese evolução

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