Genetic Polymorphism Analysis of Glucose-6-Phosphate Dehydrogenase Deficiency in a Population Sample from Delta State

📖 ABSTRACT/OVERVIEW

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited red blood cell enzymopathy globally, with high prevalence in malaria-endemic regions including sub-Saharan Africa. Identifying G6PD gene polymorphisms in at-risk populations is clinically relevant, particularly given the haemolytic risk associated with certain antimalarial and antibiotic treatments. This study analyzed G6PD gene polymorphisms in blood samples from 150 consenting students at Delta State University, Abraka, South-South Nigeria. DNA was extracted from buccal swabs and blood samples. Three common African G6PD variants (G6PD A-, G202A, A376G) were detected using allele-specific PCR followed by restriction enzyme digestion with NlaIII. Biochemical G6PD enzyme activity was measured using the methemoglobin reduction assay. G6PD deficiency was detected in 14.7% of participants, with the G6PD A- variant accounting for 86% of deficient subjects. Hemizygous males showed lower mean enzyme activity than heterozygous females, consistent with X-linked inheritance patterns. These findings contribute to the genetic epidemiology of G6PD deficiency in the Niger Delta and have implications for malaria case management at primary care levels. Keywords: G6PD deficiency, allele-specific PCR, polymorphism, Delta State, antimalarial.

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