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Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
Published on: May 6, 2010
Un mapa genético del genoma humano
G D Schuler1, M S Boguski, E A Stewart
1National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA.
Science (New York, N.Y.)
|October 25, 1996
Resumen
Los científicos mapearon más de 16.000 genes humanos utilizando marcadores de sitio etiquetados con secuencia. Este mapa genético integrado acelera el descubrimiento de genes vinculados a enfermedades hereditarias, ayudando a la investigación genética.
Área de la Ciencia:
- Genética Humana Genética Humana.
- La genómica es la genómica.
- La bioinformática es la bioinformática.
Sus antecedentes:
- Se estima que el genoma humano contiene entre 50.000 y 100.000 genes.
- Aproximadamente la mitad de estos genes han sido identificados a través de etiquetas de secuencia expresadas.
- Un mapa genético completo es crucial para comprender las enfermedades genéticas.
Objetivo del estudio:
- Desarrollar y mapear marcadores de sitio etiquetado (STS) basados en secuencias genéticas.
- Integrar datos genéticos, físicos y de secuencia para el genoma humano.
- Para facilitar la identificación de genes asociados con enfermedades humanas hereditarias.
Principales métodos:
- Un consorcio internacional utilizó paneles híbridos de radiación y una biblioteca de cromosomas artificiales de levadura.
- Más de 16.000 genes humanos fueron mapeados.
- Se estableció un mapa marco con aproximadamente 1000 marcadores genéticos polimórficos.
Principales resultados:
- Se creó un mapa genético integral que integra mapas genéticos y físicos.
- El mapa enlaza las bases de datos de secuencias de nucleótidos y proteínas.
- Se han localizado más de 16.000 genes humanos.
Conclusiones:
- El mapa genético integrado es un recurso valioso para la investigación genética.
- Se espera que este recurso acelere el descubrimiento de genes relacionados con enfermedades.
- El mapa es accesible en línea, promoviendo la investigación colaborativa.
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