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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Las variantes comunes que abarcan PLK4 están asociadas con aneuploidía de origen mitótico en embriones humanos
Rajiv C McCoy1, Zachary Demko2, Allison Ryan2
1Department of Biology, Stanford University, Stanford, CA, USA.
Science (New York, N.Y.)
|April 11, 2015
Resumen
Las variantes genéticas en el cromosoma 4 están vinculadas a la aneuploidía, una de las principales causas de pérdida del embarazo. Este hallazgo sugiere un potencial factor genético que influye en el desarrollo temprano del embrión y la supervivencia hasta la etapa de blastocisto.
Área de la Ciencia:
- Genética La genética.
- Biología Reproductiva Biología Reproductiva.
- Biología del desarrollo Biología del desarrollo.
Sus antecedentes:
- La aneuploidía, un número anormal de cromosomas, es frecuente en el desarrollo humano temprano y una de las principales causas de aborto espontáneo.
- La identificación de los fundamentos genéticos de la aneuploidía es crucial para comprender la pérdida del embarazo y mejorar los resultados de la fertilización in vitro (FIV).
Objetivo del estudio:
- Investigar la asociación entre las variantes genéticas maternas y la aneuploidía en embriones humanos tempranos.
- Para identificar genes candidatos dentro de las regiones cromosómicas asociadas que pueden influir en la fidelidad mitótica y el desarrollo embrionario.
Principales métodos:
- Examen de detección de embriones del día 3 durante los ciclos de FIV para evaluar el estado de ploidía.
- Análisis genómico para identificar variantes genéticas vinculadas en los cromosomas maternos.
- Análisis de genes candidatos centrado en los genes involucrados en la división celular y la segregación cromosómica.
Principales resultados:
- Se encontró una asociación entre la aneuploidía de origen mitótico putativo y las variantes genéticas en el cromosoma 4 en los genomas maternos.
- El gen candidato Polo-like kinase 4 (PLK4), implicado en la duplicación del centríolo, fue identificado dentro de la región asociada.
- Las madres con genotipos de alto riesgo tenían menos embriones al día 5 (etapa de blastocisto), lo que indica una menor supervivencia embrionaria.
Conclusiones:
- Las variantes genéticas maternas en el cromosoma 4 se asocian con aneuploidía embrionaria y reducción de la formación de blastocistos.
- PLK4 puede desempeñar un papel en la fidelidad mitótica, y su desregulación podría contribuir a la aneuploidía y la pérdida del embarazo.
- La región genética identificada muestra evidencia de selección humana antigua, lo que sugiere un papel evolutivo significativo para la variante subyacente.
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