1. Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects
- Author
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Ko, Chun Hay, Yung, Edmund, Li, Karen, Li, Chung Leung, Ng, Pak Cheung, Fung, Kwok Pui, Wong, Raymond Pui-On, Chui, Kit Man, Gu, Goldie Jia-Shi, and Fok, Tai Fai
- Subjects
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DEHYDROGENASES , *HEMOLYTIC anemia , *BLOOD cells , *GLUCOSE - Abstract
Abstract: 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 relatively high incidence (12.3%) of c.871G>A, and all of them harbored the silent mutation c.1311C>T. Apart from the screening program, the pharmacogenetic relationship between G6PD level and residual reduced glutathione (GSH) level was studied upon oxidative challenge by α-naphthol. The GSH levels were correlated with their status of G6PD deficiency, but no significant difference was observed between individual G6PD-deficient groups. Our data demonstrated the potentials of the MPER assay for characterization of G6PD deficiency and other genetic diseases. [Copyright &y& Elsevier]
- Published
- 2006
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