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

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

Published 2014-12-31

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Vol. 12 No. 22 (2014)
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Artículo Original Producto de Investigación
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López, G., Gelvez, N. Y., Urrego, L. F., Florez, S., Medina, D., Rodríguez, V., & Tamayo, M. L. (2014). Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals. NOVA, 12(22). https://doi.org/10.22490/24629448.1038
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https://doi.org/10.22490/24629448.1038
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Greizy López
Universidad Nacional Abierta y a Distancia - UNAD
    Nancy Yaneth Gelvez
    Universidad Javeriana
      Luisa Fernanda Urrego
      Universidad del Rosario
        Silvia Florez
        Fundación Oftalmológica Nacional
          David Medina
          Fundación Oftalmológica Nacional
            Vicente Rodríguez
            Hospital San Ignacio, Universidad Javeriana
              Marta Lucía Tamayo
              Universidad Javeriana
                Show authors biography
                Objective: Presence of 2299delG and C759F mutations was screened in 37 Colombian non-related individuals presenting RP and sensorineural deafness. Materials and methods: Direct sequence analysis of exon 13 of USH2A gene was performed in all individuals selected for the study. Results: 2299delG mutation was found only related to Usher syndrome type II, and C759F mutation was not found in any of the selected individuals.

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                43. DOI: http://dx.doi.org/10.22490/24629448.1038
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