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Aneurismas y disecciones familiares de la aorta torácica: heterogeneidad genética con un mapeo de locus mayor a
1Department of Internal Medicine, University of Texas-Houston Medical School, Houston, TX 77030, USA.
Circulation
|May 23, 2001
Resumen
Un importante locus genético para los aneurismas y disecciones familiares de la aorta torácica (TAA / disecciones) se asigna al cromosoma 5q13-14.4. Esta causa genética de la necrosis medial es heterogénea, con algunas familias que no se vinculan a este locus.
Área de la Ciencia:
- Genética La genética.
- Enfermedades cardiovasculares Enfermedad cardiovascular Enfermedad cardiovascular Enfermedad cardiovascular Enfermedad cardiovascular
- Investigación médica Investigación médica.
Sus antecedentes:
- Los aneurismas aórticos ascendentes y las disecciones están vinculados a la degeneración medial aórtica (necrosis medial).
- Los casos familiares con herencia dominante sugieren que las mutaciones de un solo gen causan necrosis medial sin síndromes.
Objetivo del estudio:
- Identificar el locus genético responsable de los aneurismas y disecciones familiares de la aorta torácica (TAA/disecciones).
- Investigar la heterogeneidad genética en estas condiciones.
Principales métodos:
- Análisis de enlaces genómicos utilizando marcadores polimórficos aleatorios en miembros de la familia afectados.
- Método del miembro del linaje afectado para el análisis del vínculo.
- Análisis de 15 familias, con análisis detallado de 9 familias para el locus 5q13-14.
Principales resultados:
- Se identificaron 3 loci cromosómicos vinculados a las AAT/disecciones.
- Se confirmó la vinculación de un locus mayor con 5q13-14 en 9 de 15 familias.
- Heterogeneidad genética demostrada, con 6 familias no vinculadas al locus 5q.
Conclusiones:
- Un locus principal para las AAT/disecciones familiares está localizado en 5q13-14.
- La base genética de las AAT/disecciones familiares es heterogénea.
- Se necesita más investigación para identificar genes en otros lugares.
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