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Prenatal diagnosis of β‐thalassemia by chip‐based capillary electrophoresis
Author(s) -
Hu Hua,
Li Caixia,
Xiong Qiang,
Gao Huafang,
Li Yan,
Chang Qing,
Liang Zhiqing
Publication year - 2008
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1932
Subject(s) - prenatal diagnosis , capillary electrophoresis , thalassemia , multiplex polymerase chain reaction , allele , genetic diagnosis , multiplex , polymerase chain reaction , beta thalassemia , medicine , fetus , genetic disorder , pregnancy , gel electrophoresis , microbiology and biotechnology , biology , genetics , gene
Objective To explore the potential of chip‐based capillary electrophoresis for rapid prenatal diagnosis of genetic diseases, we developed a prenatal diagnosis method for β‐thalassemia, one of the most common recessive inherited disorders. Method DNA samples containing known mutations of β‐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 µL (1 ng/µL) sample in 4 pregnancy cases carrying potential β‐thalassemia risk. Conclusion This chip‐based capillary electrophoresis detecting system could be used for prenatal diagnosis of β‐thalassemia and will facilitate the rapid and sensitive prenatal diagnosis of genetic disorder. Copyright © 2008 John Wiley & Sons, Ltd.