DEVELOPMENT OF MULTIPLEX POLYMERASE CHAIN REACTION COUPLED WITH DNA STRIP FOR IDENTIFICATION OF G6PD GENE MUTATIONS

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder affecting populations worldwide, especially in Southeast Asia, where the Viangchan variant is prevalent. Most individuals with this condition live normal lives but are at risk of red blood cell destruction when exposed to certain triggers, such as fava beans or antimalarial drugs like primaquine. Current screening methods have limitations, particularly in heterozygous females, who may present with normal test results and remain undiagnosed. This study aimed to develop DNA strip test kits as an alternative screening method prior primaquine administration. The test was performed on 15 malaria patients in Kanchanaburi Province, Thailand. Among them, one case of G6PD Viangchan (heterozygous) and one case of G6PD Mahidol (hemizygous) were identified. However, when compared with DNA sequencing results, the DNA strip test produced false-negative outcomes, indicating that the current version requires further development. Despite this limitation, the DNA strip test shows promise as a new screening approach, particularly for identifying heterozygous females at risk before receiving primaquine. With further refinement, it could become a valuable tool for improving patient safety in malaria treatment.