Análise cromossômica por microarranjo na investigação de alterações genômicas estruturais no transtorno do espectro autista - TEA

• Ano de defesa: 2017
• Autor(a) principal: Nascimento, Gustavo Rios
• Orientador(a): Minasi, Lysa Bernardes
• Banca de defesa: Silva, Cláudio Carlos da , Gigonzac, Marc Alexandre Duarte
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Pontifícia Universidade Católica de Goiás
• Programa de Pós-Graduação: Programa de Pós-Graduação STRICTO SENSU em Genética
• Departamento: Escola de Ciências Agrárias e Biológicas::Curso de Biologia Bacharelado
• País: Brasil
• Palavras-chave em Português: CMA; Autismo; CNVs; Microduplicação; Microdeleção.
• Palavras-chave em Inglês: CMA; Autism; CNVs; Microduplication; Microdeletion.
• Área do conhecimento CNPq: CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://tede2.pucgoias.edu.br/handle/tede/3706

Autism spectrum disorder (ASD) is characterized by social impairments, speech delay, and disruption of developmental imagination. These characteristics are observed mainly at 3 years of age, resulting in developmental impairment in relation to the expected expectation for age. Although the causes of ASD and the justifications for influences of external and environmental factors have not yet been established, the best evidence suggests that regressive behavior is genetically determined. The aim of this study was investigate CNVs (gain and loss), by CMA technique (Chromosomal Microarray Analysis), in patients with clinical indication for ASD. In order to screen the clinical suspicion, 8 subjects were interviewed (CARS, Autism Diagnostic Interview, Revised - Interview Of Diagnosis of Autism Revised). Then, they were submitted to genetic tests: G-banding karyotype, fragile X research with Amplidex Kit and CMA. The results revealed that of 8 individuals interviewed via CARS, 6 presented high score values. Regarding ADIR, 7 subjects presented comprehension in at least 3 of the 4 areas of behavior evaluated. The screening test for X-fragile revealed only 2 individuals with alterations so the CMA was done for six individuals. The CMA approach showed a predominance of CNVs in chromosomes X, 14, 15, and 22. Among all CNVs observed in this study, we observed a predominance of CNVs of gains in relation to CNVs of losses and the genes that stood out were ST6GAL2, NUP155, WDR70, CHRNA7, TPPP, ZNF630, SSX6, and SPACA5. With this, we observed that there is a diversity of genes and CNVs related to individuals with ASD and that although there is no established gene pattern it is possible to find gene regions that repeat themselves favoring the phenotype.