Palabras clave
Polimorfismo; Gen TPM1; Labio y paladar hendido no sindrómicos; Trastorno genético.
Cómo citar
Resumen
El objetivo de este estudio fue descubrir si existía una asociación entre el polimorfismo del gen TPM1 (rs11071720) y el labio/paladar hendido no sindrómico en humanos. Se inscribieron en el estudio veinticinco pacientes con labio/paladar hendido no sindrómico (NSCL/P) y veinticinco pacientes sanos como controles. Se utilizó sangre entera extraída de los participantes para obtener ADN genómico. Se realizó la amplificación de la región que abarca el sitio polimórfico del gen TPM1 mediante la reacción en cadena de la polimerasa (PCR). El genotipo de los sujetos se identificó empleando la técnica RFLP. Las distribuciones de frecuencia de genotipos y alelos en pacientes con labio y paladar hendido no sindrómicos y en los grupos de control se compararon mediante la prueba de Chi-cuadrado. En el NSCL/P, el genotipo en orden de mayor a menor frecuencia fue TC (48%), seguido de CC (32%) y TT (20%). Aunque se encontró que la frecuencia genotípica del grupo de caso y de control concordaba con el equilibrio de Hardy Weinberg, las frecuencias genotípicas TC, CC y TT del polimorfismo (rs11071720) entre los dos grupos no fueron estadísticamente significativas, lo que era evidente a partir de la p -valor 0,8472. No se encontró ninguna asociación significativa entre el polimorfismo del gen TPM1 (rs11071720) y NSCL/P.
Citas
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