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deCODE genetics: Mapa completo de recombinación del genoma humano, un gran paso en la genética
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deCODE genetics logo with Amgen

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deCODE genetics

Jan 22, 2025, 11:00 ET

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REYKJAVIK, Islandia, 22 de enero de 2025 /PRNewswire/ -- Los científicos de deCODE genetics/Amgen han elaborado un mapa completo de cómo se mezcla el ADN humano a medida que se transmite durante la reproducción. El mapa supone un gran paso en la comprensión de la diversidad genética y su impacto en la salud y la fertilidad. Es la continuación de 25 años de investigación en deCODE genetics sobre cómo se genera nueva diversidad en el genoma humano y su relación con la salud y la enfermedad.

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Bjarni V. Halldorsson and Kari Stefansson, scientists at deCODE genetics, discuss the paper: Complete recombination map of the human-genome, published in Nature today. The paper continues 25 years of research into how new diversity is generated in the human genome, and its relationship to health and disease.
Bjarni V. Halldorsson and Kari Stefansson, scientists at deCODE genetics, discuss the paper: Complete recombination map of the human-genome, published in Nature today. The paper continues 25 years of research into how new diversity is generated in the human genome, and its relationship to health and disease.
Kari Stefansson, Gunnar Palsson and Bjarni V. Halldorsson, scientists at deCODE genetics and authors on the paper, Complete recombination of the human-genome, published today in Nature.
Kari Stefansson, Gunnar Palsson and Bjarni V. Halldorsson, scientists at deCODE genetics and authors on the paper, Complete recombination of the human-genome, published today in Nature.

El nuevo mapa, que aparece hoy en la edición digital de Nature, es el primero que incorpora la reorganización a menor escala (sin cruce) del ADN de los abuelos, que es difícil de detectar debido a la gran similitud de secuencias de ADN. El mapa también identifica áreas de ADN que carecen de una reorganización importante, probablemente para proteger funciones genéticas críticas o prevenir problemas cromosómicos. Esta información ofrece una imagen más clara de por qué algunos embarazos fracasan y de cómo el genoma equilibra la diversidad con la estabilidad.

Aunque esta recombinación genética es esencial para la diversidad genética, los errores en el proceso pueden provocar graves problemas reproductivos. Estos fallos pueden dar lugar a errores genéticos que impidan la continuación de los embarazos, lo que ayuda a explicar por qué la infertilidad afecta a aproximadamente una de cada diez parejas en todo el mundo. Comprender este proceso ofrece nuevas esperanzas para mejorar los tratamientos de fertilidad y diagnosticar las complicaciones del embarazo.

La investigación también revela diferencias clave entre hombres y mujeres en cómo y dónde se produce la recombinación del genoma. Las mujeres tienen menos recombinaciones no cruzadas, pero su frecuencia aumenta con la edad, lo que puede ayudar a explicar por qué una edad materna más avanzada se asocia con mayores riesgos de complicaciones del embarazo y trastornos cromosómicos del bebé. Sin embargo, los hombres no muestran este cambio relacionado con la edad, aunque la recombinación en ambos sexos puede contribuir a las mutaciones transmitidas a la descendencia.

Comprender el proceso de recombinación también es importante para entender cómo evolucionaron los humanos como especie y qué determina las diferencias individuales, incluidos los resultados de salud. Toda la diversidad genética humana se puede rastrear hasta la recombinación y las mutaciones de novo, secuencias de ADN presentes en el bebé pero no en los padres. El mapa muestra que las mutaciones son elevadas cerca de las regiones de mezcla de ADN y, en consecuencia, que los dos procesos están altamente correlacionados.

Con sede en Reykjavik (Islandia), deCODE genetics es líder mundial en el análisis y la comprensión del genoma humano. Gracias a su experiencia y recursos poblacionales únicos, deCODE ha descubierto factores de riesgo genéticos para docenas de enfermedades comunes. El objetivo de comprender la genética de las enfermedades es utilizar esa información para crear nuevos medios de diagnóstico, tratamiento y prevención de enfermedades. deCODE genetics es una filial de propiedad absoluta de Amgen (NASDAQ:AMGN).

Vídeo de uso público: 

https://vimeo.com/1037862873/90309f69c3 

Vídeo - https://mma.prnewswire.com/media/2600841/Kari_and_Bjarni.mp4
Foto - https://mma.prnewswire.com/media/2600840/Kari_Gunnar_Bjarni.jpg
Logo - https://mma.prnewswire.com/media/1535464/deCODE_genetics_Amgen_Logo.jpg

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