Identificação de polimorfismos de quatro doenças genéticas em Guaymí, Guabalá e raças transfronteiriças no Panamá / Identification of four genetic disorders polymorphisms in Guaymi, Guabala and cross-border races in Panama

Axel Villalobos-Cortés, Hilda Castillo Mayorga, Rita González Herrera

Resumo


Tendo em vista que, no Panamá, grande parte dos programas de melhoramento genético se estabelecem com o uso de germoplasma introduzido, é necessário informar sobre quais doenças genéticas podem estar inadvertidamente circulando, como nas raças crioulas Guaymí panamenhas. e Guabalá, portanto, o objetivo deste trabalho é identificar o polimorfismo de quatro doenças genéticas em Guaymí, Guabalá e raças transfronteiriças no Panamá. Foi estabelecida a presença de polimorfismos e frequência alélica de quatro marcadores relacionados a distúrbios genéticos, fator de transcrição da microftalmia (MITF), olho rosa (PE), sindactilia ou pé de mula (LRP4) e gene da queratina 74 (KRT74). ) por sequenciamento de próxima geração, NGS. Com algumas exceções, novos polimorfismos de variantes SNP dos genes MITF02, PE, LRP440 e KRT74 foram identificados. No entanto, foi observada ligação ao alelo de MITF89, LRP435, LRP452, LRP431. A raça Guabalá foi a única que apresentou alta frequência gênica no alelo T alternativo do gene KRT74. Este trabalho é apresentado como o primeiro relato de polimorfismos marcadores associados a doenças genéticas no Panamá, para os quais é necessária a expansão e o monitoramento oportuno dos genótipos estudados e não incluídos neste trabalho.


Palavras-chave


bioinformática, biotecnologia, marcadores moleculares, doenças genéticas

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Referências


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DOI: https://doi.org/10.34188/bjaerv4n1-030

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