Variantes genéticas de MSX1, PAX9 y AXIN2 en probandos Mayas con agenesia dental de Yucatán, México
DOI:
https://doi.org/10.15517/ijds.2024.60223Palabras clave:
Agenesia dental; Mayas; Variación genética; AXIN2; PAX9; MSX1.Resumen
Este trabajo tuvo el objetivo de determinar las variantes genéticas de PAX9, MSX1 y AXIN2 en probandos mayas con agenesia dental no sindrómica (ADNS) de Yucatán, México. Se realizó secuenciación tipo Sanger del ADN de exones específicos de PAX9, MSX1 y AXIN2 en siete probandos Mayas con ADNS familiar atentidos en clínicas ortodónticas de Mérida, Yucatán, México. Se analizaron cuatro genomas de personas sanas con propósitos de comparación. Dos probandos Mayas fueron diagnosticados con oligodoncia (14 y 16 dientes perdidos) y cinco con hipodoncia (1-2 dientes perdidos). Se detectó la variante genética rs8670 en MSX1; PAX9 presentó rs12881249 y rs4904210; en AXIN2 se encontraron rs1060502133, rs1060502139, rs147716924, rs1330822418, rs769741903, rs9915936, rs1133683 y rs1234437759. Las variantes detectadas en PAX9, MSX1 y AXIN2 se clasificaron como benignas y ya habían sido previamente reportadas. En conclusión, el gen AXIN2 exhibió el mayor número de variantes. Ya que algunas de ellas también estuvieron presentes en genomas de personas sanas, se requieren estudios funcionales y epidemiológicos adicionales para determinar la significancia clínica de las variantes encontradas y los fenotipos asociados.
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Derechos de autor 2024 Nayelli A. González-Pérez, José R. Herrera-Atoche, Paola López-González, Ramón Pacheco-Arjona, Jorge A. Rangel-Méndez, Joel E. Canul-May , Javier E. Sosa-Escalante, Iván D. Zúñiga-Herrera, Fernando J. Aguilar-Ayala, Lizbeth González-Herrera
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