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ISSN 0016-3813 (Impreso)

2013, Número 2

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Gac Med Mex 2013; 149 (2)


Polimorfismos de un solo nucleótido (SNP): implicaciones funcionales de los SNP reguladores (rSNP) y de los SNP-ARN estructurales (srSNP) en enfermedades complejas

Ramírez-Bello J, Vargas-Alarcón G, Tovilla-Zárate C, Fragoso JM

Idioma: Español
Referencias bibliográficas: 71
Paginas: 220-228
Archivo PDF: 146.37 Kb.


RESUMEN

Los polimorfismos de un solo nucleótido (SNP) representan a las variantes genéticas más comúnmente encontradas en el genoma humano. Debido a su amplia distribución, estos polimorfismos se localizan en cualquier parte de la estructura de los genes y el genoma. Los SNP que tienen implicaciones funcionales sobre los niveles de expresión génica se denominan SNP reguladores (rSNP), mientras que los que alteran la traducción de los ARN mensajeros (ARNm), el corte y empalme, la eficiencia para potenciar o inhibir el corte y empalme, la estabilidad de los ARNm y la función de las proteínas (sin alterar su estructura) se denominan SNP ARN estructurales (srSNP). Diversos estudios han documentado la importancia funcional de los rSNP y srSNP en el desarrollo de enfermedades comunes como hipertensión arterial (HTA), obesidad, artritis reumatoide, enfermedad arterial coronaria, entre otras. El objetivo de este artículo es hacer una revisión bibliográfica actualizada de los SNP funcionales (rSNP y srSNP) que tiene efecto en la función del gen, ARNm, proteínas y que se asocian con diversas enfermedades complejas.


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