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Chinese Journal of Medical Genetics ; (6): 709-712, 2007.
Artículo en Chino | WPRIM | ID: wpr-229837

RESUMEN

<p><b>OBJECTIVE</b>To detect the point mutations by chip-based capillary electrophoresis and to provide a rapid and sensitive technique detection for beta-thalassemia.</p><p><b>METHODS</b>Multiplex primer-extension reaction was used to amplify the common loci of the samples for beta-thalassemia. The reaction products were detected by the chip-based capillary electrophoresis and the genotypes of the samples were discrened.</p><p><b>RESULTS</b>A system was constructed to detect the point mutations of beta-thalassemia by chip-based capillary electrophoresis, and the technology was ralidated by the patients' samples and the results coincided with those of detection kit.</p><p><b>CONCLUSION</b>Beta-thalassemia can be detected by chip-based capillary electrophoresis rapidly with a small amount of samples. It would be a new detection method of the genetic disorders.</p>


Asunto(s)
Femenino , Humanos , Masculino , Electroforesis Capilar , Métodos , Enfermedades Genéticas Congénitas , Diagnóstico , Genética , Análisis de Secuencia por Matrices de Oligonucleótidos , Métodos , Talasemia beta , Diagnóstico , Genética
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