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2003, Número 2

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Gac Med Mex 2003; 139 (2)


Temas selectos de laboratorio e investigación en hematologia

I. Introducción
II. Vías de modulación de la apoptosis
III. Guardianes del Genoma Humano
IV. Estrategias para la investigación de enfermedad residual en leucemia aguda
V. Identificación y cinética de blastos en líquido cefalorraquideo mediante citometría de flujo
VI. Trastorno mieloproliferativo transitorio
VII. Alteraciones Citogenéticas en Síndromes Mielodisplasicos (SMD)
VIII. Hemostasia primaria
IX. Utilidad de las pruebas diagnosticas en la práctica clínica

Romero-Guzmán LT, Monsiváis-Orozco AC, Frías S, Ruiz-Argüelles A, Piedras-Ross J, Arana-Trejo RM, Montiel-Manzano G, Gutiérrez-Castrellón P

Idioma: Español
Referencias bibliográficas: 64
Paginas: 81-101
Archivo PDF: 221.04 Kb.


FRAGMENTO

La Hematología como otras ramas de la Medicina, se ha visto favorecida con la aplicación del diagnóstico de tipo molecular, el laboratorio ha desempeñado un papel fundamental en este proceso a través de la implementación de técnicas moleculares. Desde que se originó la idea de que el material genético está compuesto de ácidos nucleicos, cuando Griffith en 1928 observó el fenómeno de “la transformación” y los estudios de Avery en 1944 demostraron que el principio transformador aislado correspondía químicamente al DNA, hasta el Proyecto del Genoma humano en donde se ha logrado determinar el orden de cerca de 3,200 millones de nucleótidos que forman nuestro genoma, ha aumentado la necesidad de desarrollar y aplicar tecnologías nuevas para realizar análisis detallados de esta nueva información. Han sido de gran utilidad los métodos basados en la reacción en cadena de la polimerasa (PCR), que facilita el diagnóstico molecular debido a que se realiza a partir de cualquier muestra proveniente del sujeto en estudio y solo requiere de una pequeña cantidad de DNA. El diagnóstico molecular puede tener dos posibilidades, la primera es caracterizar la mutación o mutaciones en un gen causante de la enfermedad, mediante el secuenciamiento directo de productos de PCR o con la metodología de los microarreglos. Los microarreglos del DNA es una tecnología que responde a la necesidad de analizar simultáneamente patrones de expresión de cientos o miles de genes y ofrece grandes ventajas sobre las técnicas de escrutinio genético. La segunda posibilidad se realiza mediante la identificación de los alelos de un polimorfismo genético situado muy cerca o en el interior (intrón o exón) del gen causante de la enfermedad.


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