Asociación genética entre el polimorfismo del gen RFC1 (rs1051266) y el labio y paladar hendido no sindrómico en la población del sur de la India: un estudio de casos y controles
DOI:
https://doi.org/10.15517/qf67mj92Palabras clave:
Gen RFC1; Polimorfismo; NSCL/P; rs1051266.Resumen
Determinar si existe una asociación entre el polimorfismo del gen RFC1 (rs1051266) y el desarrollo de labio y paladar hendido no sindrómico (LPHNS). El estudio incluyó a 25 pacientes con LPHNS (Grupo 1), con edades entre 1 y 17 años, de ambos sexos, y a 25 individuos sin malformaciones de labio o paladar, quienes constituyeron el grupo control (Grupo 2). Se extrajo ADN genómico a partir de muestras de sangre periférica. La región adyacente al polimorfismo del gen RFC1 fue amplificada mediante cebadores específicos de secuencia utilizando la reacción en cadena de la polimerasa (PCR). La genotipificación se realizó mediante la técnica de polimorfismo de longitud de fragmentos de restricción (RFLP). Se determinaron las frecuencias genotípicas y alélicas, y se realizaron comparaciones estadísticas mediante la prueba de Chi-cuadrado. En ambos grupos, el genotipo GA fue más frecuente en comparación con los genotipos GG y AA. No se observaron desviaciones estadísticamente significativas del equilibrio de Hardy-Weinberg en el grupo de casos (p = 0.247) ni en el grupo control (p = 0.815). La distribución de frecuencias del genotipo dominante (GG) arrojó una razón de momios (OR) de 0.3506 (IC 95%: 0.0791-1.5544; p = 0.1678), mientras que el genotipo recesivo (AA) presentó una OR de 1.5556 (IC 95%: 0.4187–5.7795; p = 0.5094). La comparación de las frecuencias alélicas entre grupos no mostró diferencias significativas (alelo G vs. alelo A: OR = 0.6169; IC 95%: 0.2798-1.3597; p = 0.2309). El análisis con modelos genéticos dominantes, recesivos y aditivos no reveló asociaciones significativas entre el polimorfismo rs1051266 y LPHNS. Los hallazgos sugieren que el polimorfismo rs1051266 del gen RFC1 no se asocia de manera significativa con el riesgo de desarrollar LPHNS en la población del sur de la India.
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