Estudio de los patrones de variabilidad genética humana mitocondrial en diferentes modelos poblacionales europeos
Abstract
Las mitocondrias son orgánulos citoplasmáticos con genoma propio presentes en casi todas las células eucariotas, y cuya función principal está asociada a la producción continua de energía a través de un proceso que se denomina respiración celular. En el interior de la matriz mitocondrial se encuentra el genoma mitocondrial, que es una molécula circular bicatenaria de 16569 pares de bases (pb) en la que podemos distinguir dos regiones principales, la región codificante y la región control, esta última con una tasa de mutación mucho más alta que la anterior y dividida a su vez en una región hipervariable 1 y una región hipervariable 2. Desde el punto de vista genético, el ADN mitocondrial (ADNmt) posee una serie de características especiales, como son un alto número de copias por célula, ausencia de recombinación, herencia exclusivamente materna y alta tasa de mutación, que le aportan un carácter distintivo y que le otorgan un gran valor como marcador molecular, sobre todo en los ámbitos de la genética forense y genética de poblaciones. Sin embargo, alguna de las características que confieren al ADNmt ese carácter diferencial, paradójicamente puede suponer a su vez una limitación. Por ejemplo, su modo de herencia nos permite por un lado llevar a cabo reconstrucciones filogenéticas de un modo relativamente sencillo, pero por otro, solamente ofrece una visión demográfico-‐poblacional desde una perspectiva materna, perspectiva que no tiene que coincidir necesariamente con el proceso demográfico global de la población. Desde el punto de vista forense, la herencia uniparental del ADNmt limita su utilidad a la identificación de linajes maternos y no permite la identificación individual.
Full text
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