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>Revistas >Cirugía y Cirujanos >Año 2002, No. 3


Chavarría-Olarte ME, Araujo-Solís MAJ, Cortés-Ortiz E, González-Valencia J
El impacto del proyecto del genoma humano en la salud de la mujer
Cir Cir 2002; 70 (3)

Idioma: Español
Referencias bibliográficas: 72
Paginas: 188-193
Archivo PDF: 53.81 Kb.


Texto completo




RESUMEN

El conocimiento generado del estudio del genoma contribuirá a elucidar cómo varía éste entre cohortes de pacientes y en particular, la importancia de estas variaciones en el desarrollo de las enfermedades y en las respuestas a los fármacos. El número de genes reportado para el ser humano es de aproximadamente 30,000 y se ha encontrado que la diversidad genética humana está dada por una variación menor a 0.1% en el código de nucleótidos del genoma. Existen actualmente varios ejemplos en la salud de la mujer, en los que variaciones del DNA en forma de polimorfismos de un solo nucleótido tienen implicaciones en la investigación clínica y la práctica médica. El polimorfismo en la enzima metileno-tetrahidrofolato reductasa aumenta el riesgo de enfermedades vasculares, incluyendo accidentes vasculares cerebrales, tromboembolia y preeclampsia. Por otra parte, los polimorfismos del gen del receptor a de estrógenos se han asociado con osteoporosis, cáncer de mama y endometrial, enfermedad coronaria, endometriosis, enfermedad de Alzheimer, artritis reumatoide, estimulación ovárica e inicio de la menopausia. La participación del genoma ha sido particularmente difícil de elucidar en la preeclampsia, debido a su etiología múltiple y a la variabilidad de su fenotipo. Se ha propuesto tanto la participación de genes recesivos maternos, como la transmisión fetal de un gen paterno y se ha señalado también la posible existencia de un locus de susceptibilidad, regulado por influencias fetales o ambientales. El avance en el estudio del genoma humano favorecerá sin duda el desarrollo de nuevas herramientas terapéuticas para éstas y otras enfermedades.


Palabras clave: , Genoma humano, polimorfismos-enfermedad, medicina genómica.


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>Revistas >Cirugía y Cirujanos >Año2002, No. 3
 

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