Pesquisa do polimorfismo T102C no gene do receptor 2A da serotonina nos portadores de transtornos invasivos do desenvolvimento e possível associação a maior susceptibilidade para comportamentos estereotipados.

• Autor(a) principal: Garcia, Aline Helen Corrêa
• Data de Publicação: 2008
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Biblioteca Digital de Teses e Dissertações do Mackenzie
• Texto Completo: http://dspace.mackenzie.br/handle/10899/22627
• topic: transtornos invasivos do desenvolvimento; autismo; htr2a; serotonina; polimorfismo; t102c; pervasive developmental disorders; autism; htr2a; serotonin; polymorphism, t102c; CNPQ::CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA

Pervasive Developmental Disorders are characterized by deficiency in three areas: communication, social interaction, repetitive and stereotypical behavior from causes not yet fully known. Evidences have suggested that autism possesses a significant genetic component from a complex multifaceted heredity with a multiloci model of interaction. Several experimental techniques and models have been utilized in order to assess the activity, expression and the alelo association of theTIDs as illnesses with a genetic component. The role of the 5HTT serotonin renders the genes of the serotonin-energetic system of interest for the study of the pathology of autism. Our work obtained and analyzed the DNA from periferic blood samples of 50 subjects diagnosed with PDD for the polymorphism T102C of the 2ª receptor of serotonin (HTR2A) comparing the results to a control population of 206 individuals, separated by both sex and racial background. The cases were analyzed through the ASQ and ABC instruments according to a greater susceptibility to repetitive and stereotyped behaviors. RESULTS: There was no significant statistical evidence for the distribution of the genotypes either in the cases (qui-quadrado=2,967/2GL/p= 0,2268) or in the control. However, it was observed a large prevalence of the heterozygote genotype among the cases (64%) while in the control this genotype was present in 50% of the individuals. Also the genotypical occurrences did not demonstrate any difference when the subjects, cases and control, were divided by sex and racial background as white and non-white. Regarding the number of stereotypes, in the ASQ as well as in the ABC, there was no difference in the genotype distribution. The sample was in accordance to the Hardy-Weiberg equilibrium.