ArticleInternational journal of laboratory hematology2015
A multiplex method for detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations.
Article in International journal of laboratory hematology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand.Pharmacology research & perspectives · 2025Article
- Hemoglobinopathies, merozoite surface protein-2 gene polymorphisms, and acquisition of Epstein Barr virus among infants in Western Kenya.BMC cancer · 2023Article
- Epidemiological characterization of imported recurrent Plasmodium vivax and Plasmodium ovale in China, 2013-2020.Infectious diseases of poverty · 2021Article
- The glucose-6-phosphate dehydrogenase Mahidol variant protects against uncomplicated Plasmodium vivax infection and reduces disease severity in a Kachin population from northeast Myanmar.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2019Article
- Point-of-Care Testing for G6PD Deficiency: Opportunities for Screening.International journal of neonatal screening · 2018Review
- A young man with severe acute haemolytic anaemia.BMJ (Clinical research ed.) · 2017Article
- Article
- Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border.PloS one · 2015Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
introductionGlucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect caused by G6PD gene mutations. This study aimed to develop a cost-effective, multiplex, genotyping method for detecting common mutations in the G6PD gene.
methodsWe used a SNaPshot approach to genotype multiple G6PD mutations that are common to human populations in South-East Asia. This assay is based on multiplex PCR coupled with primer extension reactions. Different G6PD gene mutations were determined by peak retention time and colors of the primer extension products.
resultsWe designed PCR primers for multiplex amplification of the G6PD gene fragments and for primer extension reactions to genotype 11 G6PD mutations. DNA samples from a total of 120 unrelated G6PD-deficient individuals from the China-Myanmar border area were used to establish and validate this method. Direct sequencing of the PCR products demonstrated 100% concordance between the SNaPshot and the sequencing results.
conclusionThe SNaPshot method offers a specific and sensitive alternative for simultaneously interrogating multiple G6PD mutations.
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