¿Tus genes o los míos? ¿Qué tan diferentes somos?

Desde hace algún tiempo, los científicos han creído que los seres humanos eran genéticamente idénticos en un 99.9%. El 0.1% del genoma que era diferente (aproximadamente 3,000,000 de bases de ADN) estaba constituido por “polimorfismos de un solo nucleótido” (los SNPs, por sus siglas en inglés, son alteraciones de las bases individuales del ADN) repartidos por todo el genoma. Se pensaba que algunas de estas alteraciones del ADN, explicaban en parte algunas de las diferencias físicas que existen entre dos individuos que son distintos pero normales.

En el verano de 2004, dos grupos de científicos que trabajaban de manera independiente (uno dirigido por investigadores de la Escuela de Medicina de Harvard y por el Hospital Brigham de Mujeres en Boston, y el otro encabezado por investigadores de los Laboratorios Cold Spring Harbor) cuestionaron este dogma científico. Sus investigaciones identificaron cientos de regiones del genoma humano en donde el número de copias de un segmento particular del ADN varían de un individuo a otro. Se creía que todos los segmentos del ADN, con muy pocas excepciones, existían en dos copias (una copia que se heredaba de la madre y la otra del padre).

Ambas investigaciones mostraron que hay cientos de regiones del genoma humano que podrían tener más o menos copias de las dos que se esperaban. Esto alertó a los científicos sobre la existencia de una fuente mayor de variaciones genéticas que las que previamente se concebían y nos obligó a especular acerca de las implicaciones de este descubrimiento.

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