Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.

@article{Chang1992MolecularCO,
  title={Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.},
  author={J G Chang and S. S. Chiou and L. I. Perng and Thomas C. Chen and T. C. Liu and Leonard Slade Lee and Paul H. Chen and Tang K Tang},
  journal={Blood},
  year={1992},
  volume={80 4},
  pages={1079-82}
}
We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan. This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. Ninety-four Chinese males with G6PD deficiency were studied. The results show that 50% (47 of… CONTINUE READING