Pesquisa de síndromes de microdeleção em pacientes com deficiência intelectual por meio da técnica de MLPA - Amplificação de Múltiplas Sondas Dependentes de Ligação

• Ano de defesa: 2012
• Autor(a) principal: Sabbag, Adriana Rosolia Costa
• Orientador(a): Melo, Débora Gusmão
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Carlos
• Programa de Pós-Graduação: Programa de Pós-Graduação em Biotecnologia - PPGBiotec
• País: BR
• Palavras-chave em Português: Biotecnologia; Microdeleção; Deficiência intelectual; Diagnóstico; Biologia molecular; Amplificação de Múltiplas Sondas dependentes de Ligação (MLPA)
• Palavras-chave em Inglês: Microdeletion syndromes; Intellectual disability; Diagnosis; Molecular Biology; Multiplex; Ligation Probe Amplification (MLPA)
• Área do conhecimento CNPq: CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://repositorio.ufscar.br/handle/20.500.14289/7009

Intellectual disability (ID) is manifest sign of more than 2,000 different clinical conditions and is present in 5% of the population. Because it is a heterogeneous group of clinical conditions, with different causal factors and simultaneously involved, about 50% of patients with ID have no defined etiology. Chromosomal microdeletions, situations in which there is loss of a fragment of up to 5Mb of the genome resulting in haploinsufficiency of one or multiple genes, are one of the possible causes of ID. The aim of this study was to standardize genetic testing with the technique of MLPA (Multiplex Ligation Probe Amplification) to investigate the presence of microdeletion syndromes in a sample of patients with idiopathic DI or with diagnosis not yet confirmed by molecular genetic testing. The MLPA kit used (SALSA® MLPA® P064-B2 MR1) detected, at the same time, 11 microdeletion syndromes: 1p36 deletion, Sotos, Miller-Dieker, 22q11.2 deletion, Saethre-Chotzen, Prader-Willi, Angelman, Williams, Alagille, Smith-Magenis and Canavan. We selected 57 patients with idiopathic ID and facial dysmorphias, with normal conventional karyotyping and normal brain imaging studies. The presence of microdeletion was identified in 4 patients (7%), 3 patients had Williams syndrome and 1 had 22q11.2 deletion. The results reinforce the usefulness of MLPA in the etiologic research of ID, helping in the clinical management and familial genetic counseling.