Longos trechos contíguos em homozigose identificados por análise cromossômica por microarranjos em uma população com deficiência intelectual e transtorno do espectro autista do Brasil Central
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https://doi.org/10.53660/CONJ-2120-2X70Palavras-chave:
alelos homozigotos, microarranjo, transtornos do neurodesenvolvimentoResumo
Longos trechos contínuos em homozigose (LCSH) são regiões ininterruptas de alelos homozigotos originados por consanguinidade, dissomia uniparental (UPD), mecanismos de reparo de DNA e haplótipos ancestrais. Identificamos regiões genômicas de LCSHs através do CMA, avaliando suas frequências e mecanismo de origem em pacientes com deficiência intelectual e/ou transtorno do espectro autista do serviço público de saúde do Brasil Central. Em 90% dos pacientes, pelo menos um LCSH foi identificado com um total de 265 LCSHs observados. De 265 LCSHs, 59% eram recorrentes, observados nos cromossomos 11, 16 e X, e 41% eram não recorrentes e observados nos cromossomos X e autossomos, exceto no cromossomo 19. LCSHs não recorrentes foram originados por consanguinidade em 9,7% dos pacientes, por possível reparo de DNA ou mecanismos de haplótipos ancestrais em 85,4% dos pacientes e por possível UPD segmentar em 4,9% dos pacientes. Nossos achados mostraram a utilidade do CMA de alta densidade de SNPs na identificação de LCSHs, destacando a importância de caracterizar o perfil de LCSHs na população brasileira, especialmente na população do Brasil Central.
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