Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial

Greizy López; Nancy Gelvez; Luisa Fernanda Urrego; Silvia Florez; Vicente Rodríguez; Marta Lucía Tamayo; David Medina

doi:10.22490/24629448.1038

Vol. 12 No. 22 (2014)

Published 2014-12-15

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Research Article (before OJS)

Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals

DOI: https://doi.org/10.22490/24629448.1038

Greizy López Universidad Nacional Abierta y a Distancia

Nancy Gelvez Instituto de Genética Humana, Universidad Javeriana, Bogotá, Colombia.

Luisa Fernanda Urrego Universidad del Rosario.

Silvia Florez Fundación Oftalmológica Nacional, Bogotá, Colombia.

Vicente Rodríguez Departamento de ORL, Hospital San Ignacio, Universidad Javeriana, Bogotá, Colombia.

Marta Lucía Tamayo Instituto de Genética Humana, Universidad Javeriana, Bogotá, Colombia. Fundación Oftalmológica Nacional, Bogotá, Colombia.

David Medina Fundación Oftalmológica Nacional, Bogotá, Colombia.

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Abstract
References

Objective: To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colombia suffering from RP and sensorineural deafness. Materials and methods: Exon 13 of USH2A gene was directly sequenced in all subjects selected for the study. Results: In this work, the 2299delG mutation was only observed in subjects suffering from Usher syndrome type II while the C759F mutation was not detected in any subject.

keywords: Usher Syndromes, Deaf-Blind Disorders, Sensorineural Hearing Loss, Retinitis Pigmentosa, Mutation, Genetics.

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López, G., Gelvez, N., Urrego, L. F., Florez, S., Rodríguez, V., Tamayo, M. L., & Medina, D. (2014). Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals. NOVA Biomedical Sciences Journal, 12(22), 131-141. https://doi.org/10.22490/24629448.1038

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Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals

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