RESUMEN

OBJECTIVES: This study aimed to evaluate a rapid molecular carrier screening strategy for beta-thalassemia. DESIGN AND METHODS: Allele-specific PCR was combined with amplicon detection by dissociation curve analysis of SYBR Green I fluorescence in a single step. RESULTS: The presence of a particular mutation results in the amplification of a mutation-specific product and the dissociation temperature of each amplicon was highly reproducible. CONCLUSIONS: Homogeneous allele-specific PCR amplification and detection of multiple beta-globin mutations can serve as a rapid and inexpensive carrier screening tool.

Asunto(s)

Tamización de Portadores Genéticos/métodos , Mutación , Reacción en Cadena de la Polimerasa/métodos , Talasemia beta/genética , Alelos , Pruebas Genéticas/métodos , Genotipo , Humanos , Reproducibilidad de los Resultados , Talasemia beta/diagnóstico