Objective: To detect the point mutations by chip-based capillary electrophoresis and to provide a rapid and sensitive technique detection for beta-thalassemia.
Methods: 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.
Results: 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.
Conclusion: 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.
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