Genética y medicina molecular en cardiologíaGenetics and Molecular Medicine in Cardiology

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Los descubrimientos de los aspectos moleculares del funcionamiento celular están cambiando los conceptos de salud y enfermedad. Todas las áreas de la medicina, incluyendo la cardiología, se enriquecen con pruebas diagnósticas para determinar la predisposición y realizar la detección de alteraciones moleculares. Esta revisión acerca de la genética y de los aspectos moleculares en cardiología se escribe en el centenario del redescubrimiento de los principios de Mendel y en el momento en que se anuncia la secuenciación del genoma humano. El artículo comienza con consideraciones acerca de la constitución pluricelular del cuerpo humano y de los principios de la genética y sus bases moleculares, incluyendo una breve descripción de los métodos de mapeo genético. A continuación, se hace una reseña histórica sobre la genética médica, la medicina molecular y el Proyecto del Genoma Humano. Finalmente se realiza una exposición sobre el espectro de enfermedades genéticas, utilizando ejemplos de afecciones cardiovasculares.

The discoveries on molecular aspects of cellular function are changing the concepts of health and disease. All medical fields, including cardiology, have been enriched with several diagnostic test to determine predisposition and to detect molecular dysfunctions. This review on the genetic and molecular aspects of cardiovascular diseases is written at the Centenary of the rediscovery of Mendel's principles on heredity and at the time of the announcement of the end of the human genome sequencing task. The review starts with considerations on the pluricellular constitution of the human body, and the principles of genetics with their molecular bases; including a short description of the methods for gene mapping. The following sections give a historic synopsis on the concepts of medical genetics, molecular medicine, and the Human Genome Project. The review ends with a brief description of the spectrum of genetic diseases, using examples of cardiovascular diseases.

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    Copyright © 2001 Sociedad Española de Cardiología. Published by Elsevier España, S.L. All rights reserved.