Introducción y objetivos. La comunicación interventricular (CIV) es una de las principales formas de cardiopatía congénita (CPC) en los individuos con el síndrome de deleción del cromosoma 22q11 del Homo sapiens (HSA22q11). Con objeto de identificar los genes candidatos situados en el HSA22q11 asociados a la CIV, se analizó la pérdida de heterocigosis (LOH) mediante determinación del genotipo de microsatélites y análisis de dosis de siete genes candidatos. Métodos. Se investigó a un total de 82 familias con CPC, en las que había 261 individuos (85 pacientes, 176 hermanos y progenitores). Se efectuó un examen de detección de la LOH en la región HSA22q11 mediante determinación del genotipo de microsatélites (n = 10). Las estrategias de bioinformática permitieron caracterizar más detalladamente siete genes candidatos situados en esa región. Se aplicaron reacciones en cadena de polimerasa cuantitativas para el análisis de dosis a siete genes candidatos de 16 pacientes con LOH de HSA22q11. Resultados. En 42 (49,4%) de los 85 pacientes con CPC se identificó la presencia de al menos una LOH en la región HSA22q11. Se observaron LOH de HSA22q11 en 17 de 29 pacientes con CIV y en 3 de 4 familias con ambos hijos afectados por CPC. El análisis de dosis realizado para siete genes candidatos indicó una deleción heterocigota recurrente de los genes HIRA, GNB1L y TUBA8 en 16 pacientes con CIV que presentaban LOH de HSA22q11. Conclusiones. La determinación del genotipo de microsatélites identificó la LOH de HSA22q11 en varios tipos de CPC. La deleción heterocigota de los genes HIRA, GNB1L o TUBA8 podría desempeñar un papel importante en el desarrollo del tabique ventricular. Dado que la CPC puede ser una enfermedad familiar, el examen de detección de LOH de HSA22q en los hermanos del caso índice será útil para un diagnóstico y un tratamiento precoces.
Palabras clave
Cardiopatías congénitas
Análisis de dosis génica
Genotipo 22q11del
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