publication . Article . 2013

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

Nancy Gelvez; Marta L. Tamayo; David Medina; Vicente Rodríguez; Silvia Florez; Luisa Fernanda Urrego; Greizy López;
Open Access
  • Published: 30 Dec 2013 Journal: Nova, volume 12, page 131 (issn: 1794-2470, eissn: 2462-9448, Copyright policy)
  • Publisher: Universidad Nacional Abierta y a Distancia
Abstract
Objetivo: Determinar la presencia de las mutaciones 2299delG y C759F en 37 individuos colombianos no relacionados con asociación de 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 observada en ninguno de los individuos del estudio. 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: ...
Subjects
free text keywords: Ciencias Médicas y de la Salud, Medicina Básica, Genética Humana, Síndrome de Usher, trastornos sordoceguera, pérdida auditiva sensorineural, reti-nitis pigmentosa, mutación., Mutación, Medicine (General), R5-920, Biology (General), QH301-705.5, Síndromes de Usher, genética, Usher Syndromes, Mutation, Genetics, Sensorineural deafness, Usher syndrome, medicine.disease, medicine, Dermatology, medicine.medical_specialty, Sensorineural hearing loss, Retinitis pigmentosa, Exon, Deaf-Blind Disorders, business.industry, business, Audiology

1. 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.

2. 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.

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.

4. 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.

5. 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.

6. Resolución 458 de 2011, Instituto Nacional de Salud.

7. Bretagne S, Costa JM, Vidaud M, Van Nhieu JT, Feith J. Detection of Toxoplasma gondii by Competitive DNA Amplicfiation of Bronchoalveolar Lavage Samples. JID 1993;168 (6): 1585-88.

8. 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. [OpenAIRE]

9. 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. [OpenAIRE]

10. 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.

11. 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.

12. 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.

13. 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.

Abstract
Objetivo: Determinar la presencia de las mutaciones 2299delG y C759F en 37 individuos colombianos no relacionados con asociación de 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 observada en ninguno de los individuos del estudio. 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: ...
Subjects
free text keywords: Ciencias Médicas y de la Salud, Medicina Básica, Genética Humana, Síndrome de Usher, trastornos sordoceguera, pérdida auditiva sensorineural, reti-nitis pigmentosa, mutación., Mutación, Medicine (General), R5-920, Biology (General), QH301-705.5, Síndromes de Usher, genética, Usher Syndromes, Mutation, Genetics, Sensorineural deafness, Usher syndrome, medicine.disease, medicine, Dermatology, medicine.medical_specialty, Sensorineural hearing loss, Retinitis pigmentosa, Exon, Deaf-Blind Disorders, business.industry, business, Audiology

1. 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.

2. 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.

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.

4. 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.

5. 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.

6. Resolución 458 de 2011, Instituto Nacional de Salud.

7. Bretagne S, Costa JM, Vidaud M, Van Nhieu JT, Feith J. Detection of Toxoplasma gondii by Competitive DNA Amplicfiation of Bronchoalveolar Lavage Samples. JID 1993;168 (6): 1585-88.

8. 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. [OpenAIRE]

9. 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. [OpenAIRE]

10. 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.

11. 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.

12. 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.

13. 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.

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