Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects.

@article{Ko2006MultiplexPE,
  title={Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects.},
  author={Chun Hay Ko and Edmund C M Yung and Karen Li and Chung Li and Pak Cheung Ng and K. P. Fung and Raymond Pui-On Wong and Kit Man Chui and Goldie Jia-Shi Gu and Tai Fai Fok},
  journal={Blood cells, molecules & diseases},
  year={2006},
  volume={37 1},
  pages={21-6}
}
The primary objective of our study was to provide a simple and reliable assay for identifying the majority of G6PD genetic variants in the Chinese population. We optimized the multiplex primer extension reaction (MPER) assay for simultaneous screening of 14-point mutations in 98 G6PD-deficient subjects. Our data demonstrated that this method is precise, cost-effective and has successfully identified mutations in 97 out of 98 subjects, including all heterozygous mutants. We also detected a… CONTINUE READING

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