1. Repositorio Institucional UNAD

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4. Revista Nova

Title:	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
metadata.dc.creator:	López, Greizy Gelvez, Nancy Urrego, Luisa Fernanda Florez, Silvia Rodríguez, Vicente Tamayo, Marta Lucía Medina, David
Keywords:	Usher Syndromes; Deaf-Blind Disorders; Sensorineural Hearing Loss; Retinitis Pigmentosa; Mutation; Genetics.;síndrome de Usher; trastornos sordoceguera; pérdida auditiva sensorineural; retinitis pigmentosa; mutación.
Publisher:	Universidad Colegio Mayor de Cundinamarca
metadata.dc.relation:	http://hemeroteca.unad.edu.co/index.php/nova/article/view/1038/1035 /*ref*/Priest J, Moss D, Arnold B, Hamlin K, Jones C, Lammie P. Seroepidemiology of Toxoplasma in a coastal region of Haiti: multiplex bead assay detection of immunoglobulin G antibodies that recognize the SAG2A antigen. Epidemiol Infect. 2015; 143(3): 618-30. doi: 10.1017/S0950268814001216. /*ref*/Ahmadpour E, Daryani A, Sharif M, Sarvi S, Aarabi M, Mizani A, et. al. Toxoplasmosis in immunocompromised patients in Iran: a systematic review and meta-analysis.J Infect Dev Ctries. 2014; 15(12):1503-10. doi: 10.3855/jidc.4796. /*ref*/Meira C, Pereira-Chioccola V, Vidal J, de Mattos C, Motoie G, Costa-Silva TA, et. al. Cerebral and ocular toxoplasmosis related with IFN- , TNF- , and IL-10 levels. Front Microbiol. 2014; 5:492. doi: 10.3389/fmicb.2014.00492. eCollection 2014. /*ref*/Tonini R, Vidal J, Vera L. Molecular diagnosis of cerebral toxoplasmosis: comparing markers that determine Toxoplasma gondii by PCR in peripheral blood from HIV-infected patients The Brazilian Journal of Infectious Diseases. 2010; 14(4): 346–50. /*ref*/Anselmo L, Vilar F, Lima J, Yamamoto A, Bollela V, Takayanagui O. Usefulness and limitations of polymerase chain reaction in the etiologic diagnosis of neurotoxoplasmosis in immunocompromised patients. J Neurol Sci. 2014; 346 (1-2):231-4. doi: 10.1016/j.jns.2014.08.034. /*ref*/Resolución 458 de 2011, Instituto Nacional de Salud. /*ref*/Bretagne S, Costa JM, Vidaud M, Van Nhieu JT, Feith J. Detection of Toxoplasma gondii by Competitive DNA Amplification of Bronchoalveolar Lavage Samples. JID 1993;168 (6): 1585-88. /*ref*/Reishi U, Bretagne S, Kruger D, Ernault P, Costa JM: Comparison of two targets for the diagnosis of Toxoplasmosis by real-time PCR using fluorescence resonance energy transfer hybridization probes. BMC Infect Dis. 2003; 3: 7 doi 10.1186/1471-2334-37. /*ref*/Asgari Q, Keshavarz H, Shojaee S, Motazedian M, Mohebali M, Miri R, et al. In Vitro and In Vivo Potential of RH Strain of Toxoplasma gondii (Type I) in Tissue Cyst Forming. Iran J Parasitol. 2013; 8(3):367-75. /*ref*/Taravati P, Lam D, Van Gelder R. Role of molecular diagnostics in ocular microbiology. Curr Ophthalmol Rep. 2013;1(4). doi: 10.1007/s40135-013-0025-1. /*ref*/Bourdin C, Busse A, Kouamou E, Touafek F, Bodaghi B, Le Hoang P, Mazier, et al. PCR-based detection of Toxoplasma gondii DNA in blood and ocular samples for diagnosis of ocular toxoplasmosis. J Clin Microbiol. 2014; 52(11):3987-91. doi: 10.1128/JCM.01793-14. /*ref*/Xiao J, Gao G, Li Y, Zhang W, Tian Y, et al. Spectrums of Opportunistic Infections and Malignancies in HIV-Infected Patients in Tertiary Care Hospital, China. PLoS ONE. 2013; 8(10): e75915. doi:10.1371/journal.pone.0075915. /*ref*/Cortés LJ, Duque S, López MC, Moncada D, Molina D, Gómez-Marín JE, Gunturiz ML. Gene polymorphisms in the dihydrofolate reductase (dhfr) and dihydropteroate synthase (dhps) genes and structural modelling of the dhps gene in Colombian isolates of Toxoplasma gondii. Biomedica. 2014; 34(4):556-66. doi: 10.1590/S0120-41572014000400008
metadata.dc.format.*:	application/pdf
metadata.dc.type:	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion info:eu-repo/article/published info:eu-repo/article/published info:eu-repo/article/published
Description:	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. Determinar la presencia de las mutaciones 2299delG y C759F en 37 individuos colombianos no relacionados que presentan RP e hipoacusia neurosensorial. Materiales y métodos: análisis de secuencia directa del exón 13 del gen USH2A en todos los individuos seleccionados para el estudio. Resultados: la mutación 2299delG fue observada únicamente en individuos con Síndrome de Usher tipo II, mientras que la mutación C759F, no fue identificada en los individuos del estudio.
metadata.dc.source:	NOVA Biomedical Sciences Journal; Vol. 12, Núm. 22 (2014); 131-141 Nova; Vol. 12, Núm. 22 (2014); 131-141 NOVA Ciências Biomédicas Publicação; Vol. 12, Núm. 22 (2014); 131-141 2462-9448 1794-2470
URI:	https://repository.unad.edu.co/handle/10596/29968
Other Identifiers:	http://hemeroteca.unad.edu.co/index.php/nova/article/view/1038 10.22490/24629448.1038
Appears in Collections:	Revista Nova

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