Publicado feb 12, 2012



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Lisbeth Morales Ortíz

Nancy Gelvez Moyano

Luisa Fernanda Urrego

María Fernanda Leiva

Marta L. Tamayo Fernández

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Resumen

Introducción: Las pérdidas auditivas son heredables en un 50-60% de los casos. Dentro de estas, las sorderas no sindrómicas predominan y se han descrito más de 40 genes asociados. Uno de los más frecuentemente implicados es el gen de Otoferlina (OTO F).

Objetivo: Determinar la frecuencia de la mutación p.Q829X en el gen OTO F en 649 individuos colombianos con sordera no sindrómica.

Materiales y métodos: Se seleccionó una población de 649 individuos para realizar la búsqueda de la mutación p.Q829X por medio de la técnica PCR-RFLP. 

Resultados: Se identificaron 12 individuos con la mutación p.Q829X (12/649), que corresponden a una frecuencia del 1,8%.

Conclusiones:La mutación p.Q829X es la más frecuente en el gen OTO F, y la tercera luego de las mutaciones S199F y 35delG en el gen GJB2, causantes de sordera en la población analizada. Se observó variabilidad en el grado de pérdida auditiva en los individuos homocigotos para la mutación y presencia de neuropatía auditiva en el 62,5% de estos casos.

Keywords

genética humana, mutación, pérdida auditiva sensorineural, pruebas genéticas, sordera, human genetic, mutation, sensorineural hearing loss, genetic testing, deafness,

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Cómo citar
Morales Ortíz, L., Gelvez Moyano, N., Urrego, L. F., Leiva, M. F., & Tamayo Fernández, M. L. (2012). Frecuencia de la mutación p.Q829X del gen Otoferlina (OTOF) en población colombiana con sordera no sindrómica. Universitas Medica, 53(2), 144–153. https://doi.org/10.11144/Javeriana.umed53-2.fmpg
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