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2019, Número 5

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Gac Med Mex 2019; 155 (5)


Papel de la variabilidad genética en las enfermedades mendelianas y multifactoriales

Ramírez-Bello J

Idioma: Español
Referencias bibliográficas: 54
Paginas: 499-507
Archivo PDF: 384.84 Kb.


RESUMEN

El primer borrador de la secuencia del genoma humano, publicado en 2001, reportó gran cantidad de variantes de un solo nucleótido (SNP, single nucleotide polymorphisms). Debido a que estos polimorfismos podrían representar prácticamente toda la variabilidad involucrada en la susceptibilidad, protección, gravedad, etcétera, de diversas enfermedades comunes, así como en la respuesta de estas a los medicamentos, se pensó que podrían ser “los biomarcadores de elección” en la medicina genómica personalizada. Con la nueva información de la secuenciación de un mayor número de genomas hemos comprendido que los SNP son solo una parte importante de los marcadores genéticos involucrados en estos rasgos. Además de los SNP, se han identificado que otras variantes como las inserciones/deleciones (INDEL) y las variantes en el número de copia (CNV), las cuales — además de los clásicos repetidos en tándem de número variable (VNTR) y repetidos cortos en tándem (STR)— originan o contribuyen al desarrollo de enfermedades. El uso de estos marcadores ha servido para identificar regiones del genoma involucradas en enfermedades mendelianas (un gen-una enfermedad) o genes directamente asociados con enfermedades multifactoriales. Esta revisión tiene como objetivo describir el papel de los STR, VNTR, SNP, CNV e INDEL en los estudios de ligamiento y asociación, y su papel en las enfermedades mendelianas y multifactoriales.


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