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2020, Número 1

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Med Cutan Iber Lat Am 2020; 48 (1)


Secuenciación de nueva generación: utilidad en dermatología

Pinedo-Donelli S, Ball E

Idioma: Español
Referencias bibliográficas: 59
Paginas: 47-62
Archivo PDF: 682.07 Kb.


RESUMEN

En el año 2001 se obtuvo el primer «borrador» del genoma humano, creado al utilizar un método llamado secuenciación de Sanger, que consistía en la identificación del orden o secuencia de las bases nitrogenadas dentro de la molécula de ADN. Por tratarse de un método engorroso y complicado la secuenciación del genoma tardó aproximadamente 10 años y el costo fue muy elevado. Esto llevó a los investigadores a desarrollar nuevas técnicas que hicieran posible conocer la naturaleza de la molécula de ADN de múltiples genes y organismos de manera rápida y a menor costo. Su finalidad era poder determinar las alteraciones genéticas o mutaciones que dan origen a enfermedades y permitir conocer la identidad de un determinado organismo a través de su genoma. Por ejemplo, en el caso de las epidemias que son causadas por un agente desconocido, al descifrar la secuencia de los nucleótidos que integran su ADN podría conocerse la identidad del agente causal, al comparar los datos obtenidos con un genoma de referencia. Es así como surge la secuenciación de nueva generación como un método que logra secuenciar múltiples fragmentos de ADN en tiempo real y en paralelo, a fin de descifrar el genoma de un determinado organismo o determinar los genes responsables de una enfermedad en un tiempo muy corto. Son múltiples los usos que se le dan a esta técnica en dermatología, por ejemplo, para decidir conductas terapéuticas, predecir el pronóstico y la respuesta al tratamiento en enfermedades malignas e inflamatorias de la piel, entre otros.


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