Clebson Pantoja Pimentel
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Erik Artur Cortinhas-Alves
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Edivaldo Herculano Correa de Oliveira
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Luiz Carlos Santana-da-Silva
Background.Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) ofFOXE1gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA ofFOXE1gene on the risk of thyroid dysgenesis.Method.A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing.Results.More than 90% of genotypes found in the group of patients with thyroid dysgenesis and in controls subjects were represented by sizes 14 and 16 polymorphisms in the following combinations: 14/14, 14/16, and 16/16. Genotypes 14/16 and 16/16 were more frequent in the control group, while genotype 14/14 was more frequent in the group of patients with thyroid dysgenesis. There was no difference between agenesis group and control group. Genotype 14/14 when compared to genotypes 14/16 and 16/16A showed an association with thyroid dysgenesis.Conclusion.PolyA ofFOXE1gene alters the risk of thyroid dysgenesis, which may explain in part the etiology of this disease.
06-P045 A G11A mutation N-terminal to the polyalanine tract in HOXD13 causes limb malformations by altering both the stability and the DNA-binding functions of HOXD13
