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Los autores estudiaron la frecuencia de la enfermedad en familias de Irán, país donde a menudo se producen matrimonios entre primos hermanos. Asumían que es necesario heredar dos copias de un gen implicado en el ductus arteriosus patente para desarrollar la enfermedad, por lo que era más probable encontrar casos en hijos de parejas emparentadas. De hecho, comprobaron que la prevalencia del defecto cardíaco era más elevada en Irán que en Estados Unidos. Señalan que el 63% de los niños con ductus arteriosus patente son hijos de padres emparentados entre sí.
Examinando las secuencias genéticas de afectados por el defecto, aislaron un gen relacionado al menos con uno de cada tres casos de ductus arteriosus. El gen se llama PDA1, aunque los autores apuntan que no todos los casos se deben a este gen ni todos los portadores de dos copias del mismo desarrollan la enfermedad.
Webs Relacionadas
Proceedings of the National Academy of Sciences
http://www.pnas.org/