Article
Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects.
Blood cells, molecules & diseases - 1 Jan 2000
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, Fok Tai Fai
Abstract excerpt
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...
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