Prenatal diagnosis of β‐thalassemia by chip‐based capillary electrophoresis

OBJECTIVE: To explore the potential of chip-based capillary electrophoresis for rapid prenatal diagnosis of genetic diseases, we developed a prenatal diagnosis method for beta-thalassemia, one of the most common recessive inherited disorders. METHOD: DNA samples containing known mutations of beta-thalassemia were used to optimize multiplex allele-specific PCR and chip-based capillary electrophoresis was used to simultaneously detect Cy3-labeled PCR products and Cy5-labeled ladder. This system was validated by detecting 40 unknown cases, 4 of which were processed further for prenatal diagnosis. RESULTS: We analyzed previously genotyped samples and unknown samples by this method and the results were concordant with those from reverse dot blot and direct sequencing. Prenatal diagnosis was carried out successfully and rapidly on 1 microL (1 ng/microL) sample in 4 pregnancy cases carrying potential beta-thalassemia risk. CONCLUSION: This chip-based capillary electrophoresis detecting system could be used for prenatal diagnosis of beta-thalassemia and will facilitate the rapid and sensitive prenatal diagnosis of genetic disorder.