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

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

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.

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