Análisis genético del polimorfismo (rs1801133) del gen metilentetrahidrofolato reductasa (MTHFR) en pacientes con labio y paladar hendido no sindrómico en la población del sur de la India: estudio preliminar de casos y controles
DOI:
https://doi.org/10.15517/y7gfgs79Palabras clave:
Gen MTHFR; rs1801133; No sindrómico; Labio y paladar hendido; Polimorfismo; Variación genética.Resumen
El objetivo de este estudio fue identificar si existe una asociación entre el polimorfismo del gen MTHFR (rs1801133) y el labio y paladar hendido no sindrómico (LPHNS) en pacientes pertenecientes a la población del sur de la India. Se incluyeron en el estudio 25 pacientes con LPHNS y 25 individuos sanos como grupo control. La genotipificación se realizó mediante PCR y el sistema de mutación refractaria a la amplificación (ARMS). Los cebadores utilizados fueron: MTHFR-Forward: 5’- TGCTGTTGGAAGGTGCAAGAT - 3’, MTHFRR1: 5’ - GCGTGATGATGAAATCGG - 3’ y MTHFRR2: 5’ - GCGTGATGATGAAATCGA - 3’. El proceso de amplificación se llevó a cabo con una temperatura de alineamiento de 58 °C durante 30 segundos. Las distribuciones de frecuencia de genotipos y alelos en ambos grupos se compararon mediante la prueba de chi-cuadrado. La frecuencia del genotipo GA fue del 100%, sin presencia de los genotipos GG ni AA en el grupo 1 (grupo de casos). En el grupo 2 (grupo control), la frecuencia alélica fue GG = 24% y GA = 76%. El genotipo homocigoto GG estuvo ausente en el grupo de casos, mientras que el genotipo homocigoto AA estuvo ausente tanto en ambos grupos. Se observó una desviación estadísticamente significativa del equilibrio de Hardy-Weinberg, con valores de p < 0,00001 en el grupo de casos y p < 0,0022 en el grupo control. La distribución de frecuencia del polimorfismo génico entre los dos grupos no pudo evaluarse debido a la ausencia de los genotipos GG y AA. Ambos grupos mostraron una desviación del equilibrio de Hardy-Weinberg, lo que sugiere una posible variación genotípica en evolución en la población estudiada. La clasificación de los genotipos basada en modelos genéticos como dominante, recesivo o aditivo no evidenció una asociación significativa del marcador polimórfico con el estado de la enfermedad.
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