Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects
| Autor: | Chung Leung Li, Pak Cheung Ng, Kwok-Pui Fung, Karen Li, Goldie Jia Shi Gu, Kit Man Chui, Edmund Yung, Chun-Hay Ko, Tai Fai Fok, Raymond Pui On Wong |
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| Rok vydání: | 2006 |
| Předmět: |
Silent mutation
China Genotype Mutant Naphthols Glucosephosphate Dehydrogenase Biology Primer extension chemistry.chemical_compound hemic and lymphatic diseases parasitic diseases medicine Humans Glucose-6-phosphate dehydrogenase Multiplex Genetic Testing Molecular Biology Genetics Molecular Epidemiology Incidence Cell Biology Hematology Glutathione medicine.disease Molecular biology Glucosephosphate Dehydrogenase Deficiency chemistry Mutation Molecular Medicine Nucleic Acid Amplification Techniques Oxidation-Reduction Pharmacogenetics Glucose-6-phosphate dehydrogenase deficiency |
| Zdroj: | Blood Cells, Molecules, and Diseases. 37:21-26 |
| ISSN: | 1079-9796 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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